U.S. patent application number 14/260002 was filed with the patent office on 2014-11-20 for personal assessment including familial risk analysis for personalized disease prevention plan.
The applicant listed for this patent is Cynthia Jorgensen, Muin J. Khoury, Maren T. Scheuner, Paula W. Yoon. Invention is credited to Cynthia Jorgensen, Muin J. Khoury, Maren T. Scheuner, Paula W. Yoon.
Application Number | 20140343964 14/260002 |
Document ID | / |
Family ID | 36777995 |
Filed Date | 2014-11-20 |
United States Patent
Application |
20140343964 |
Kind Code |
A1 |
Yoon; Paula W. ; et
al. |
November 20, 2014 |
PERSONAL ASSESSMENT INCLUDING FAMILIAL RISK ANALYSIS FOR
PERSONALIZED DISEASE PREVENTION PLAN
Abstract
Family health history information can be used to assess familial
risk for common diseases and determine early detection and
prevention medical strategies. Assessed familial risk of disease
can then be used to determine recommendations for disease
prevention and screening that are targeted to familial risk. Other
factors can be included to generate personalized disease prevention
recommendations. For example, personal health history information,
personal health behavior information, or both can be collected and
assessed to generate personalized disease prevention
recommendations based on the information collected. Recommendations
for disease prevention and screening based at least on familial
risk can be used to provide a personalized disease prevention plan
that encourages a person to make behavior changes that will reduce
the risk of disease and utilize preventive health services.
Inventors: |
Yoon; Paula W.; (Norcross,
GA) ; Scheuner; Maren T.; (Manhattan Beach, CA)
; Jorgensen; Cynthia; (Atlanta, GA) ; Khoury; Muin
J.; (Atlanta, GA) |
|
Applicant: |
Name |
City |
State |
Country |
Type |
Yoon; Paula W.
Scheuner; Maren T.
Jorgensen; Cynthia
Khoury; Muin J. |
Norcross
Manhattan Beach
Atlanta
Atlanta |
GA
CA
GA
GA |
US
US
US
US |
|
|
Family ID: |
36777995 |
Appl. No.: |
14/260002 |
Filed: |
April 23, 2014 |
Related U.S. Patent Documents
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Application
Number |
Filing Date |
Patent Number |
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11815445 |
May 20, 2008 |
8719045 |
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PCT/US2006/003968 |
Feb 2, 2006 |
|
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14260002 |
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60650076 |
Feb 3, 2005 |
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Current U.S.
Class: |
705/3 |
Current CPC
Class: |
G06Q 40/08 20130101;
G16H 10/60 20180101; G16H 15/00 20180101; G16H 50/30 20180101; G06F
19/00 20130101 |
Class at
Publication: |
705/3 |
International
Class: |
G06F 19/00 20060101
G06F019/00 |
Claims
1.-20. (canceled)
21. A computer-implemented method of providing a personalized
disease prevention plan for a subject, the method comprising:
receiving family health history information of the subject;
receiving personal health information of the subject; identifying,
by a computer system, one or more familial risk matrices based at
least on the family health history information of the subject;
determining, by the computer system, a risk assessment for the
subject based on an intersection of two familial disease history
scenarios in a familial risk matrix included in the identified
familial risk matrices; based at least on the risk assessment for
the subject and the personal health information of the subject,
generating one or more personalized disease prevention
recommendations for the subject; and transmitting the one or more
personalized disease prevention recommendations for the subject in
the personalized disease prevention plan for the subject.
22. The method of claim 21, wherein receiving the family health
history information comprises receiving the family health history
information from a computer interface.
23. The method of claim 22, wherein the computer interface is
configured to collect the family health history information by at
least one of: receiving family health history information inputs
via the interface; or receiving a records file including family
health history information.
24. The method of claim 21, wherein receiving personal health
information comprises receiving collected information from an
interface of a computer interface.
25. The method of claim 24, wherein the interface is configured to
collect the personal health information by at least one of:
receiving personal health information inputs via the interface; or
receiving a records file including personal health information.
26. The method of claim 21, wherein the personal health information
comprises personal health history information.
27. The method of claim 21, wherein the personal health information
comprises personal health behavior information.
28. The method of claim 21, wherein identifying one or more
familial risk matrices comprises: storing a plurality of familial
risk matrices, each familial risk matrix including two axes of
familial disease history scenarios, each familial risk matrix cell
including risk information; and identifying the one or more
familial risk matrices based on a comparison of the familial
disease history scenarios included in a matrix and the family
health history information of the subject.
29. The method of claim 28, wherein the familial disease history
scenarios are based on one or more of a number of first and second
degree relatives from a lineage having a disease of interest or an
indicator disease, an age of a relative at time of diagnosis of the
disease of interest or the indicator disease, or gender of the
relative.
30. The method of claim 21, wherein determining the risk assessment
for the subject comprises: identifying a first familial disease
history scenario along a first axis of a familial risk matrix, the
first familial disease history scenario describing a first portion
of the family health history information of the subject;
identifying a second familial disease history scenario along a
second axis of the familial risk matrix, the second familial
disease history scenario describing a second portion of the
familial health history information of the subject; and determining
the risk assessment based on risk information included in a cell
located at an intersection of the first familial disease history
scenario and the second familial disease history scenario.
31. The method of claim 30, wherein determining the risk assessment
based on risk information comprises one of: generating a
quantitative risk value based on the risk information; and
generating a qualitative risk value based on the risk
information.
32. A system for providing a personalized disease prevention plan
for a subject, the system comprising: a health history collector
configured to: receive family health history information of the
subject; and receive personal health information of the subject; a
processor configured to: identify one or more familial risk
matrices based at least on the family health history information of
the subject; determine a risk assessment for the subject based on
an intersection of two familial disease history scenarios in a
familial risk matrix included in the identified familial risk
matrices; based at least on the risk assessment for the subject and
the personal health information of the subject, generate one or
more personalized disease prevention recommendations for the
subject; and a transmitter configured to transmit the one or more
personalized disease prevention recommendations for the subject in
the personalized disease prevention plan for the subject.
33. The system of claim 32, wherein the health history collector is
configured to receive the family health history information by
receiving collected family health history information from a
computer interface.
34. The system of claim 32, wherein the health history collector is
configured to receive the personal health information by receiving
collected information from a computer interface.
35. The system of claim 32, further comprising a memory configured
to store a plurality of familial risk matrices, each familial risk
matrix including two axes of familial disease history scenarios,
each familial risk matrix cell including risk information.
36. The system of claim 35, wherein the processor is configured to
identify one or more familial risk matrices by identifying one or
more familial risk matrices stored in the memory based on a
comparison of the familial disease history scenarios included in a
matrix and the family health history information of the
subject.
37. The system of claim 32, wherein the processor is configured to
determine the risk assessment for the subject by: identifying a
first familial disease history scenario along a first axis of a
familial risk matrix, the first familial disease history scenario
describing a first portion of the family health history information
of the subject; identifying a second familial disease history
scenario along a second axis of the familial risk matrix, the
second disease history scenario describing a second portion of the
family health history information of the subject; and determining
the risk assessment based on risk information included in a cell
located at an intersection of the first familial disease history
scenario and the second familial disease history scenario.
38. The system of claim 32, further comprising a memory configured
to store risk lowering recommendations associated with one or more
diseases.
39. A non-transitory computer-readable medium comprising
instructions, the instructions that, when executed by a processor
of an apparatus, cause the apparatus to: receive family health
history information of a subject; receive personal health
information of the subject; identify, by a computer system, one or
more familial risk matrices based at least on the family health
history information of the subject; determine, by the computer
system, a risk assessment for the subject based on an intersection
of two familial disease history scenarios in a familial risk matrix
included in the identified familial risk matrices; based at least
on the risk assessment for the subject and the personal health
information of the subject, generate one or more personalized
disease prevention recommendations for the subject; and transmit
the one or more personalized disease prevention recommendations for
the subject in a personalized disease prevention plan for the
subject.
40. The non-transitory computer-readable medium of claim 39,
wherein identifying one or more familial risk matrices comprises:
storing a plurality of familial risk matrices, each familial risk
matrix including two axes of familial disease history scenarios,
each familial risk matrix cell including risk information; and
identifying the one or more familial risk matrices based on a
comparison of the familial disease history scenarios included in a
matrix and the family health history information of the subject.
Description
CROSS-REFERENCE TO RELATED APPLICATIONS
[0001] This application is a continuation of U.S. patent
application Ser. No. 11/815,445, to Yoon et al., filed May 20,
2008, entitled "PERSONAL ASSESSMENT INCLUDING FAMILIAL RISK
ANALYSIS FOR PERSONALIZED DISEASE PREVENTIONS PLAN," which is a
U.S. National Stage Application of International Application No.
PCT/US2006/003968, filed Feb. 2, 2006, which was published in
English under PCT Article 21(2), which in turn claims the benefit
of U.S. Provisional Patent Application No. 60/650,076 to Scheuner
et al., filed Feb. 3, 2005, entitled "FAMILIAL RISK ANALYSIS FOR
DETERMINING A DISEASE PREVENTION PLAN," all of which are hereby
incorporated herein by reference.
FIELD
[0002] The field relates to preventive medicine and risk analysis
of disease.
BACKGROUND
[0003] Determining risk factors for disease can be helpful for
assessing an individual's overall risk for a disease and in
creating a plan to modify an individual's risk of developing a
disease. Medical providers are under increasing pressure from
governments, medical specialty organizations, managed care, and
patients to practice preventive medicine. Similarly, health
organizations and insurance companies are beginning to recognize
that risk analysis of disease and preventive medicine can be a very
cost effective strategy for providing care. Medical screening and
prevention guidelines for many chronic disorders have been
developed by governments and medical organizations to facilitate
risk analysis of disease and preventive medicine practice. However,
such guidelines can be slow to be adopted, sometimes poorly
understood, counter to historical practice, and can be perceived as
cumbersome, difficult to use, not readily accessible or confusing
by both medical providers and patients. Similarly, the guidelines
do not incorporate comprehensive personal health behaviors or
family health history information to determine a patient-specific
or personalized risk of disease and disease prevention plan.
Accordingly, there remains a need to better assess disease risk and
communicate risk to patients.
SUMMARY
[0004] Family health history information can be used to assess
familial risk for common diseases of adulthood and determine early
detection and prevention medical strategies. Along with familial
risk, other factors can be included to generate personalized
disease prevention recommendations. For example, personal health
history information, personal health behavior information (e.g.,
information about health-related personal practices, information
about whether the subject has had one or more screening tests
performed, or both), or both can be collected and assessed to
generate personalized disease prevention recommendations based on
the information collected. Such recommendations can be based on
risk scenarios. Combining and personalizing such information can
encourage preventive health care.
[0005] In addition, information can be collected about the disease
history of a person and the person's first and second degree
relatives (e.g., mother, father, children, siblings, grandparents,
aunts and uncles) and then analyzed to determine familial risk for
developing common chronic diseases (e.g., coronary heart disease,
stroke, type 2 diabetes, and colorectal, breast, and ovarian
cancer). Assessed familial risk of disease can then be used to
determine recommendations for disease prevention and screening that
are targeted to familial risk.
[0006] Recommendations for disease prevention and screening based
on familial risk (e.g., combined with personal health behavior
information) can be used to provide a disease prevention plan that
encourages a person to make behavior changes that reduce the risk
of disease and utilize preventive health services.
[0007] The techniques described herein can be applied to any number
of diseases where determining familial risk of disease and a
disease prevention plan based on family history, as well as
personal characteristics, health history and behaviors are
desired.
[0008] Additional features and advantages of the technologies
described herein will be made apparent from the following detailed
description of illustrated embodiments, which proceeds with
reference to the accompanying drawings.
BRIEF DESCRIPTION OF THE DRAWINGS
[0009] FIG. 1A is a block diagram of an exemplary system for
determining a disease prevention plan for a subject based on
familial risk.
[0010] FIG. 1B is a flowchart showing an exemplary method for
determining familial risk of disease for a subject.
[0011] FIG. 2A is a block diagram of an exemplary system for
providing personalized disease prevention recommendations for a
subject.
[0012] FIG. 2B is a flowchart showing an exemplary method of
providing personalized disease prevention recommendations for a
subject.
[0013] FIG. 3 is a flowchart showing an exemplary method for
determining familial risk of one or more diseases of interest for a
subject.
[0014] FIG. 4 is a flowchart showing an exemplary method for
determining a subject's familial risk of a disease of interest
based on first and second degree relative family health
history.
[0015] FIG. 5 is a flowchart showing an exemplary
computer-implemented method for determining familial risk of one or
more diseases of interest.
[0016] FIG. 6 is a block diagram showing another exemplary system
for determining a disease prevention plan for a subject based on
familial risk.
[0017] FIG. 7 is a flowchart showing yet another exemplary method
for determining familial risk of disease for a subject.
[0018] FIG. 8 illustrates an exemplary familial risk matrix for
determining familial risk of disease based on family health
history.
[0019] FIGS. 9, 10, and 11 are exemplary familial risk matrices for
determining familial risk of breast cancer.
[0020] FIGS. 12, 13, 14, 15, 16, and 17 are exemplary familial risk
matrices for determining familial risk of ovarian cancer.
[0021] FIGS. 18, 19, and 20 are exemplary familial risk matrices
for determining familial risk of colon cancer.
[0022] FIGS. 21, 22, 23, 24, 25, and 26 are exemplary familial risk
matrices for determining familial risk of coronary heart
disease.
[0023] FIGS. 27, 28, 29, 30, 31, and 32 are exemplary familial risk
matrices for determining familial risk of stroke.
[0024] FIGS. 33, 34, and 35 are exemplary familial risk matrices
for determining familial risk of type 2 diabetes.
[0025] FIG. 36 is a block diagram showing an exemplary system for
determining a disease prevention plan.
[0026] FIGS. 37-58 are screen shots from an exemplary
implementation of a computer-implemented method for both
determining the behavioral and familial risk of one or more
diseases of interest in a subject and determining a disease
prevention plan for a subject.
[0027] FIG. 59 is an exemplary computer system that can be
implemented with the described technologies.
DETAILED DESCRIPTION
Overview of Technologies
[0028] The technologies described herein can be used in any of a
variety of scenarios in which determination of familial risk of one
or more diseases of interest and/or determination of a disease
prevention plan based on familial risk of disease is useful.
Personal behaviors can be included in the assessment, resulting in
a determination of personal risk.
[0029] A disease prevention plan includes any general or specific
prevention recommendations for reducing the risk of developing one
or more diseases of interest. For example, recommendations can
include screening for early detection of a disease of interest
and/or screening for indicators of additional risk (e.g.,
specialized tests, genetic evaluations, and genetic testing). The
plan can include recommendations for continuation or modification
of behavior (e.g., increase consumption of fruits and
vegetables).
[0030] A disease of interest includes any disease for which
familial risk is assessed for a subject. In practice, diseases of
interest include common diseases that result from complex
interactions of multiple genes with multiple behavioral
environmental factors. For example, heart disease (e.g., coronary
heart disease), stroke, diabetes, colorectal cancer, breast cancer,
and ovarian cancer can be diseases of interest.
[0031] An indicator disease includes any disease associated with
indicating or otherwise correlating with an increased risk of
developing a disease of interest. For example, ovarian cancer can
be an indicator disease for breast cancer. In some cases, a disease
can be an indicator disease for itself.
[0032] A first degree relative includes blood relatives, such as
parents, siblings, or children. First degree relatives share one
half of their genes in common.
[0033] A second degree relative includes aunts, uncles, nieces,
nephews, and grandparents. Second degree relatives share one
quarter of their genes in common.
[0034] Family health history information includes disease history
of a subject's biological relatives. For example, family health
history information can include disease history of first and second
degree relatives, as well as disease history of more distant
relatives. Disease history, for example, can include the number of
first and second degree relatives, whether a relative has a disease
of interest or indicator disease, gender of affected relatives,
lineage of affected relatives (e.g., maternal or paternal side of
the family), and the age of the relative at time of diagnosis of
disease of interest or indicator disease.
[0035] Personal health history information includes name, date of
birth, gender, age, race/ethnicity, height, weight, whether the
subject currently has any disease of interest or indicator disease,
personal health behavior information, or any combination
thereof.
[0036] Personal health behavior information includes information
related to health-related personal practices. Such practices can
include smoking or other tobacco use, body mass index (BMI), level
of physical activity (e.g., exercise), diet (e.g., daily servings
of fruits and vegetables), alcohol use, aspirin use, and the like.
Personal health behavior information can also include whether the
subject has had one or more screening tests performed. Information
about any one or more of these can be collected from the
subject.
[0037] Familial risk (e.g., of disease) includes a likelihood of
developing a disease (e.g., a disease of interest) based on family
history. In any of the examples herein, a metric of familial risk
of disease can be determined and expressed quantitatively. In any
of the examples herein, a metric of familial risk of disease can be
determined and expressed qualitatively (e.g., as a risk assessment
category out of three or more categories). For example, familial
risk of a disease can be categorized as high (e.g., strong),
moderate, or low (e.g., weak) based at least on the number of first
and second degree relatives having an indicator disease, the
relatives' age of onset of the indicator disease, and the like.
Alternatively, another measure can be presented (e.g., a numerical
rating, a percentage rating, or the like).
[0038] Screening tests include any test that screens for disease or
risk factors associated with disease. For example, screening tests
can include clinical breast exams, mammograms, fecal occult blood
tests, sigmoidoscopy, colonoscopy, blood cholesterol test, blood
pressure test, blood sugar test, and the like.
[0039] A predetermined familial disease history scenario includes
any family health history information of any relative that may be
associated with familial risk. For example, the scenario in which a
first degree relative has a disease of interest can be a
predetermined familial disease history scenario. Other scenarios
include how many relatives of a particular degree of relationship
developed one or more indicator diseases, as well as age of onset
of disease (e.g., early or late onset) for such relatives.
[0040] Intersection of two predetermined familial disease history
scenarios includes situations in which a subject has two
predetermined familial disease history scenarios. When the
information is referenced with a disease matrix, the two
predetermined familial health history scenarios meet in a
risk-indicating familial history matrix cell, and the familial risk
assessment is assigned based on the intersection of the two
scenarios. A disease prevention plan can also be constructed based
on the matrix cell.
[0041] Familial risk clarifiers include qualifying statements which
clarify or further explain the assignment of familial risk of
disease. For example, familial risk clarifiers can be used in the
explanation of familial risk to subjects, and as part of a disease
prevention plan.
[0042] Adoption status can indicate whether the subject was adopted
and can be included in any of the information, such as in the
personal health history information.
Example 1
Exemplary System for Determining a Disease Prevention Plan for a
Subject Based on Familial Risk
[0043] FIG. 1A shows an exemplary system 100 for determining a
disease prevention plan for a subject based on familial risk.
[0044] Health records 102 of a subject are obtained and input into
a familial risk assessor 104 to assess the familial risk of one or
more diseases and determine a disease prevention plan 106.
[0045] The familial risk assessor 104 can employ any combination of
technologies, such as those described herein, to determine the
disease prevention plan 106 for the subject.
[0046] Methods for determining familial risk and a disease
prevention plan for a subject are described in detail below.
Example 2
Exemplary Ages
[0047] In any of the examples herein, an age of onset of disease or
age of diagnosis of disease can be an age range, particular age,
age category (e.g., early, late, or the like), or other indication
of age. Although particular ages are shown in some examples (e.g.,
in age ranges), other age groupings can be used.
Example 3
Exemplary Method for Determining Familial Risk of Disease for a
Subject
[0048] FIG. 1B shows an exemplary method 150 for determining
familial risk of disease for a subject.
[0049] At 152, family health history is collected. For example,
disease history of a subject's first and second degree biological
relatives including the number of first and second degree
relatives, the lineage and gender of the first and second degree
relatives, whether a relative has the disease of interest or an
indicator disease, and the age of the relative at time of diagnosis
of the disease of interest or indicator disease can be
collected.
[0050] At 154, familial risk of disease is determined by analyzing
family health history. For example, predetermined family disease
history scenarios can be analyzed.
[0051] At 156, results of the determination of familial risk of
disease are presented. For example, familial risk of disease for
one or more diseases of interest can be presented as high (e.g.,
strong), moderate, or low (e.g., weak). Familial risk clarifiers
can also be presented.
[0052] The method described in this or any of the other examples
can be a computer-implemented method performed via
computer-executable instructions in one or more computer-readable
media. Any of the actions shown can be performed by software
incorporated within an electronic medical record system or any
other health information system.
Example 4
Exemplary System for Providing a Personalized Disease Prevention
Recommendations for a Subject
[0053] FIG. 2A shows an exemplary system 200 for providing one or
more personalized disease prevention recommendations for a subject.
In the example, a user interface 202 collects information from a
subject. Such information can include family health history
information 212 for a subject, personal health history information
234 for a subject, and personal health behavior information 236 for
a subject.
[0054] A familial risk assessor 222 is configured to analyze the
family health history 212 and output a measure (e.g., any of the
metrics described herein) of familial risk of disease 232 for one
or more diseases.
[0055] A combined risk assessor 242 is configured to analyze the
familial risk of disease 232, the personal health history
information 234, the personal health behaviors history information
236, or some combination thereof to generate a disease prevention
recommendation 252. The combined risk assessor 242 can comprise
various sub-assessors (e.g., a personal health behavior assessor
and the like). In some cases, the combined risk assessor 242 may
detect that additional information can be gathered to provide a
superior recommendation. Responsive to such detection, the assessor
242 can direct collection of the additional information from the
subject.
[0056] The combined risk assessor 242 can consult one or more risk
scenarios 248 to generate and provide one or more personalized
disease prevention recommendations 252. The disease prevention
recommendations 252 can be included as part of a disease prevention
plan as described herein.
Example 5
Exemplary Method for Providing Personalized Disease Prevention
Recommendations for a Subject
[0057] FIG. 2B shows an exemplary method 250 of providing a
personalized disease prevention recommendation for a subject and
can be performed on a system such as that shown in FIG. 2A.
[0058] In the example, the family health history information,
personal health history information, and personal health behavior
information for a subject are received at 260. For example, such
information can be collected via any of the user interface
techniques described herein.
[0059] Then, at 270, familial risk for one or more diseases is
determined. For example, one or more metrics of familial risk for
one or more diseases for the subject can be determined based at
least on the family health history information of the subject.
[0060] At 280, combined assessment (e.g., based on the metrics of
familial risk, family health history information, personal health
history information, personal health behavior information, or some
combination thereof) is performed. For example, one or more
personalized disease prevention recommendations for the subject can
be generated during the combined assessment. Risk scenarios can be
consulted as described herein.
[0061] At 290, one or more disease prevention recommendations are
presented. The disease prevention recommendations can be included
as part of a disease prevention plan (e.g., a personalized disease
prevention plan) as described herein. The recommendations and plan
can be provided via the user interfaces described herein (e.g., in
a single web-based session responsive to the information entered by
the subject).
Example 6
Exemplary User Interface
[0062] In any of the examples herein, any number of user interfaces
can be presented to a user for collecting information such as
family health history information, personal health history
information, personal health behavior information, or some
combination thereof. For example, a software-presented user
interface can include a set of forms that are presented (e.g., to a
subject user) and completed (e.g., by the subject user) via a
computerized device.
[0063] In any of the examples herein, forms can be presented via a
networked device. For example, web pages can be presented via the
HTTP protocol or some other technique. Access can be controlled via
username and password techniques.
Example 7
Exemplary Risk Scenarios
[0064] In any of the examples described herein, information
provided by a subject can be analyzed to determine whether the
information falls within one or more risk scenarios. For example,
any of the information in the family health history, familial risk
of disease, personal health history, health behavior, or
combination thereof can be used as criteria for determining whether
the subject satisfies one or more risk scenarios.
[0065] In practice, such risk scenarios can be specified as a set
of criteria that can be stored in data structures (e.g., in a
table, database, or the like) on one or more computer-readable
media. Such criteria can include whether a certain disease appears
in the family health history, whether the subject is at risk (e.g.,
high risk, at least medium risk, and the like) for one or more
diseases, whether the subject has ever had one or more diseases,
whether the subject engages in certain health behaviors (e.g.,
engages or has engaged in one or more health-related personal
practices, has had one or more screening tests performed), and the
like.
Example 8
Exemplary Personalized Disease Prevention Recommendations
[0066] Based on whether a subject meets one or more risk scenarios,
a set of one or more personalized disease prevention
recommendations can be presented as part of a disease prevention
plan for the subject (e.g., a personalized disease prevention
plan). The personalized disease prevention recommendations can
include information appearing in or derived from any of the
information provided by the subject.
[0067] Recommendations can include recommendations to continue
(e.g., affirm) or modify behaviors or conditions indicated in
information collected from the subject. For example,
recommendations can be directed to personal health history such as
screening tests (e.g., "Schedule an appointment today.") or
health-related personal practices (e.g., "Stop smoking now."
"Continue to eat <number> servings of fruit a day." or
"Increase your level of physical activity.").
[0068] Factors that led to the recommendation can be included in
the recommendation. For example, one or more of the criteria for
the risk scenario can be included. In practice, such factors can be
expressed as a plain language (e.g., textual) description of the
criteria (e.g., "Your Body Mass Index is over <number>, and
at least one or your first degree relatives had <disease>
therefore . . . ").
Example 9
Exemplary Method for Determining Familial Risk of One or More
Diseases of Interest for a Subject
[0069] FIG. 3 shows an exemplary method 300 for determining
familial risk of one or more diseases of interest for a
subject.
[0070] At 302, family health history of a subject is received. For
example, disease history of a subject's first and second degree
biological relatives including the number, lineage, and gender of
first and second degree relatives, whether a relative has a disease
of interest or an indicator disease, and the age of the relative at
time of diagnosis of the disease of interest or indicator disease
can be received.
[0071] At 304, a disease of interest is determined. For example,
heart disease, stroke, diabetes, colorectal cancer, breast cancer,
and ovarian cancer can be diseases of interest that are
determined.
[0072] At 306, familial risk for a subject of the determined
disease of interest can be assigned. For example, the family health
history of a subject's first and second degree biological relatives
can be analyzed to assign familial risk. Following the assignment
of familial risk for the determined disease of interest, one or
more additional diseases of interest can be determined at 304, and
familial risk for the one or more additional diseases of interest
can be assigned.
[0073] At 308, results of the assignment of familial risk for the
one or more diseases of interest can be presented. For example,
familial risk can be categorized as low (e.g., weak), moderate, or
high (e.g., strong) and presented to the subject with accompanying
familial risk clarifiers and recommendations for reducing the level
of risk and/or recommended preventive medical strategies or exams
(e.g., screenings).
Example 10
Exemplary Method for Determining a Subject's Familial Risk of a
Disease of Interest Based on First and Second Degree Relative
Family Health History
[0074] FIG. 4 shows an exemplary method 400 for determining a
subject's familial risk of a disease of interest based on first and
second degree relative family health history.
[0075] At 402, family health history for a subject is obtained.
Family health history can be obtained via the subject, paper or
electronic health records. For example, family health history for a
subject can be obtained via questionnaires in an electronic or
paper format.
[0076] At 404, a disease of interest is determined from the family
health history. For example, heart disease, stroke, diabetes,
colorectal cancer, breast cancer, and ovarian cancer can be
diseases of interest that are determined.
[0077] In the example, the disease of interest is treated as an
indicator disease. Accordingly, at 406, the number of first and
second degree relatives that developed the disease of interest is
determined from the family health history.
[0078] At 408, the age of onset of the disease of interest for the
first and second degree relatives that developed the disease of
interest is determined from the family health history. Lineage and
gender of the first and second degree relatives that developed the
disease of interest can also be determined.
[0079] At 410, the number of first and second degree relatives that
developed a different disease associated with an increased risk of
developing the disease of interest (e.g., a different indicator
disease) is determined from the family health history.
[0080] At 412, the age of onset of the indicator disease for the
first and second degree relatives that developed the different
disease is determined from the family health history. Lineage and
gender of the first and second degree relatives that developed the
different disease can also be determined.
[0081] At 414, a subject's familial risk of the disease of interest
based on the first and/or second degree relative family health
history is assigned. For example, familial risk can be assigned as
low (e.g., weak), moderate, or high (e.g., strong) based on the
family health history (e.g., detection of predetermined familial
disease history scenarios).
[0082] At 416, results of the assignment of familial risk for the
one or more diseases of interest can be presented. For example,
familial risk can be categorized as low (e.g., weak), moderate, or
high (e.g., strong) and presented to the subject with accompanying
familial risk clarifiers and recommendations for reducing the level
of risk and/or recommended preventive medical strategies or exams
(e.g., screenings).
Example 11
Exemplary Computer-Implemented Method for Determining Familial Risk
of One or More Diseases of Interest
[0083] FIG. 5 shows an exemplary computer-implemented method 500
for determining familial risk of one or more diseases of
interest.
[0084] At 502, family health history is received. For example,
disease history of a subject's first and second degree biological
relatives including the number, gender, and lineage of first and
second degree relatives, whether a relative has a disease of
interest or an indicator disease, and the age of the relative at
time of diagnosis of disease of interest or indicator disease can
be received.
[0085] At 504, familial risk of one or more diseases of interest is
determined based on first and/or second degree relatives having the
one or more diseases of interest or indicator diseases.
[0086] At 506, results of the assignment of familial risk for the
one or more diseases of interest can be presented. For example,
familial risk can be categorized as low (e.g., weak), moderate, or
high (e.g., strong) and presented with accompanying familial risk
clarifiers and recommendations for reducing the level of risk
and/or recommended preventive medical strategies or exams (e.g.,
screenings).
Example 12
Exemplary System for Determining a Disease Prevention Plan for a
Subject Based on Familial Risk
[0087] FIG. 6 shows an exemplary system 600 for determining a
disease prevention plan for a subject based on familial risk.
[0088] Health records 602 of a subject are obtained and input into
a familial risk assessor 604 to assess the familial risk of one or
more diseases.
[0089] The familial risk assessor 604 can employ one or more
disease matrices 606 to determine familial risk of one or more
diseases. For example, a disease matrix can include a
two-dimensional table with various predetermined familial disease
health scenarios on both the x axis and y axis. The intersection of
two predetermined familial disease history scenarios in a disease
matrix can result in a familial risk assessment being assigned
based on the intersection of the two scenarios. Furthermore,
familial risk clarifiers (e.g., qualifying statements which clarify
or further explain the assignment of familial risk of disease based
on the intersection of two predetermined familial disease history
scenarios) can be incorporated into one or more disease matrix
intersections.
[0090] Familial risk assessment, familial risk classifiers, and a
disease prevention plan based on familial risk, personal health
history information, and/or personal health behavior information
can be presented as results by a results presenter 608.
[0091] A disease prevention plan can be determined for a subject as
described in detail below.
Example 13
Another Exemplary Method for Determining Familial Risk of Disease
of a Subject
[0092] FIG. 7 shows another method 700 for determining familial
risk of disease of a subject. For example, system 600 can be
implemented to perform method 700.
[0093] At 702, health records are received. For example, personal
health history records and health records of one or more relatives
can be received. The health records can include disease history of
a subject's first and second degree biological relatives including
the number, gender, and lineage of first and second degree
relatives, whether a relative has a disease of interest or an
indicator disease, and the age of the relative at time of diagnosis
of disease of interest or indicator disease can be received.
Additionally, health records can include personal health history
information such as name, date of birth, gender, age,
race/ethnicity, height, weight, whether a subject currently has any
disease of interest or indicator disease, personal health behavior
information, or any combination thereof. Personal health behavior
information can include information related to smoking, exercise,
diet, screening tests, and the like.
[0094] At 704, familial disease data can be determined from the
health records received. For example, disease history of a
subject's first and second degree biological relatives including
the number, gender, and lineage of first and second degree
relatives, whether a relative has an indictor disease, and the age
of the relative at time of diagnosis of the indicator disease can
be determined.
[0095] At 706, one or more familial risk matrices can be consulted
to determine familial risk of disease of the subject based on
determined familial disease data. For example, predetermined
familial disease health scenarios (e.g., disease data on first and
second degree relatives) can be compared to familial risk matrices
(e.g., matrices that assign a categorization of familial risk of
disease) to determine if an intersection of two predetermined
familial disease history scenarios is present.
[0096] At 708, results of the consultation of the one or more
familial risk matrices can be provided as results of the
determination of familial risk of disease (e.g., as part of a
disease prevention plan or to select a disease prevention plan).
For example, an intersection of two predetermined familial disease
history scenarios can result in a risk assessment being assigned.
Additionally, familial risk clarifiers can be provided with the
results to clarify or further explain the determination of familial
risk of disease.
Example 14
Exemplary Familial Risk Matrix for Determining Familial Risk of
Disease Based on Family Health History
[0097] FIG. 8 illustrates an exemplary familial risk matrix 800 for
determining familial risk of disease based on family health
history. Such a matrix can be used to assess a subject's risk of
developing a disease of interest in any of the examples herein.
[0098] The x-axis of the matrix includes predetermined familial
disease history scenarios 802 (e.g. A, B, C . . . ) and the y-axis
of the matrix includes predetermined familial disease history
scenarios 804 (e.g. 1, 2, 3 . . . ). For example, scenarios based
on the number of first and second degree relatives from one lineage
(e.g., nuclear, maternal or paternal) having a disease of interest
or an indicator disease, the age of the relative at time of
diagnosis of the disease of interest or the indicator disease, and
the gender of the relative can be predetermined familial disease
scenarios 802 and 804. In matrices in which breast cancer or
ovarian cancer is the disease of interest, for example, Ashkenazi
Jewish ancestry can also be a predetermined familial disease
scenario.
[0099] The intersection of two predetermined familial disease
history scenarios in a disease matrix results in a cell 806 which
includes a risk assessment category (e.g. "Risk") being assigned
based on the intersection of the two scenarios. Risk can be
assigned one of three levels of risk for a disease represented by
uppercase letters: low or weak familial risk (A), moderate familial
risk (M), or strong or high familial risk (H). Furthermore,
familial risk clarifiers (e.g. "Clarifiers") can be included with
the assignment of risk, thereby incorporating references to
qualifying statements which clarify or further explain the
assignment of familial risk of disease based on the intersection of
two predetermined familial disease history scenarios (e.g., based
on a familial or hereditary syndrome). Such familial risk
clarifiers can be represented by lower case letter in the matrix
and the references incorporated into the providing and presentation
of results. Such familial risk clarifiers can be provided according
to a general or disease-specific hierarchy as described in detail
below.
[0100] Analysis of multiple intersections of two predetermined
familial disease history scenarios can result in an overall
familial risk level determination for the disease of interest. For
example, the highest risk level determined can be selected as the
overall familial risk level determination for the disease of
interest.
[0101] Familial risk matrices for select diseases of interest are
described in detail below.
Example 15
Exemplary Familial Risk Matrices for Determining Familial Risk of
Breast Cancer Based on Family Health History
[0102] FIGS. 9-11 illustrate exemplary familial risk matrices 900,
1000, and 1100 (according to the form of exemplary familial risk
matrix 800) for determining familial risk of breast cancer based on
family health history. Shaded areas of the matrices are duplicative
cells within each matrix.
[0103] In the example, the definition of age of onset of breast
cancer is defined as:
[0104] Breast cancer: early <age 50; late > or =age 50.
[0105] There are up to six familial/hereditary syndromes that
feature breast cancer. A listing of single gene disorders that
feature breast cancer can be found in: Scheuner M T, Yoon P, Khoury
M J. "Contribution of mendelian disorders to chronic disease:
opportunities for recognition, intervention, and prevention." Am J
Med Genet 2004; 125C:50-65, hereby incorporated by reference
herein. The two most common forms are hereditary breast-ovarian
cancer (HBOC) and hereditary site-specific breast cancer. Both are
associated with germline BRCA1 and BRCA2 mutations. Most families
with HBOC have BRCA mutations, and about half of families with
hereditary site-specific breast cancer have BRCA mutations. The
breast cancer familial risk matrices 900, 1000, and 1100 recognize
familial characteristics that are associated with an increased risk
of breast cancer, as well as the two common familial syndromes that
feature breast cancer. Pattern recognition for families with
HBOC/BRCA gene mutations is based on the NCCN Practice Guidelines
in Oncology--v. 1.2004.
[0106] One of three levels of familial risk for a disease is
assigned. The three levels of familial risk can be represented by
uppercase letters: low or weak familial risk (A), moderate familial
risk (M), or strong or high familial risk (H)
[0107] Familial risk clarifiers for the breast cancer matrices 900,
1000, and 1100 include:
a=At least one family member with both breast and ovarian cancer.
The combination of these cancers is a risk factor for breast cancer
and can be a sign of an inherited form of breast cancer called
hereditary breast-ovarian cancer. b=Closely related family members
with breast and ovarian cancer. The combination of these two
cancers is a risk factor for breast cancer and can be a sign of an
inherited form of breast cancer called hereditary breast-ovarian
cancer. c=Two or more closely related family members with ovarian
cancer. Although a different cancer, a family history of ovarian
cancer is a risk factor for breast cancer and can be a sign of an
inherited form of breast cancer called hereditary breast-ovarian
cancer. d=At least one family member with male breast cancer, which
can be a sign of an inherited form of breast cancer. e=At least one
family member with breast cancer at a young age. f=Two or more
closely related family members with breast cancer. g=A family
member with breast cancer at a later age. h=A family member with
ovarian cancer, which can be a risk factor for breast cancer.
i=Three or more closely related family members with breast cancer.
j=Some inherited forms of breast and ovarian cancer are more common
in Ashkenazi Jewish families, and this is noted if personal health
information collected included ethnicity.
Example 16
Exemplary Hierarchy of Presentation of Familial Risk Clarifiers in
Familial Risk Matrices for Determining Familial Risk of Breast
Cancer Based on Family Health History
[0108] Familial risk clarifiers in familial risk matrices for
determining familial risk of breast cancer (according to example
10) based on family health history can be provided according to a
hierarchy.
[0109] For example, a hierarchy utilizing familial risk clarifiers
described in example 10 can be as follows:
[0110] Familial risk clarifier "a" can be presented;
[0111] Familial risk clarifier "b" can be presented;
[0112] Familial risk clarifier "c" can be presented;
[0113] Familial risk clarifier "d" can be presented;
[0114] Familial risk clarifier "e" can be presented;
[0115] Familial risk clarifier "f" can be presented when familial
risk clarifier "i" is not presented;
[0116] Familial risk clarifier "g" can be presented if: [0117]
Familial risk clarifier "a" is not presented; or Familial risk
clarifier "b" is not presented; or Familial risk clarifier "d" is
not presented; or Familial risk clarifier "e" is not presented; or
Familial risk clarifier "f" is not presented; or Familial risk
clarifier "i" is not presented;
[0118] Familial risk clarifier "h can be presented if: [0119]
Familial risk clarifier "a" is not presented; or Familial risk
clarifier "b" is not presented; or Familial risk clarifier "c" is
not presented;
[0120] Familial risk clarifier "i" can be presented; and
[0121] Familial risk clarifier "j" can be presented.
Example 17
Exemplary Familial Risk Matrices for Determining Familial Risk of
Ovarian Cancer Based on Family Health History
[0122] FIGS. 12-17 illustrate exemplary familial risk matrices
1200, 1300, 1400, 1500, 1600, and 1700 (according to the form of
exemplary familial risk matrix 800) for determining familial risk
of ovarian cancer based on family health history. Shaded areas of
the matrices are duplicative cells within each matrix.
[0123] In the example, the definition of age of onset of breast
cancer is defined as:
[0124] Breast cancer: early <age 50; late > or =age 50.
[0125] In the example, the definition of early age of onset of
colon cancer is defined as:
[0126] Colon cancer: early <age 50; late > or =age 50.
[0127] There are several familial/hereditary syndromes that feature
ovarian cancer, including hereditary site-specific ovarian cancer,
hereditary breast-ovarian cancer (HBOC) and hereditary nonpolyposis
colon cancer (HNPCC). A listing of single gene disorders that
feature ovarian cancer can be found in: Scheuner M T, Yoon P,
Khoury M J. "Contribution of mendelian disorders to common chronic
disease: opportunities for recognition, intervention and
prevention." Am J Med Genet 2004; 125C:50-65. Hereditary
breast-ovarian cancer (HBOC) is associated with germline BRCA1 and
BRCA2 mutations, and most families with HBOC have BRCA mutations.
HNPCC is associated with germline mutations in mismatch repair
genes (most commonly MSH2 and MLH1). The ovarian cancer familial
risk matrices 1200, 1300, 1400, 1500, 1600, and 1700 recognize
familial characteristics that are associated with an increased risk
of ovarian cancer, as well as the common familial syndromes that
feature ovarian cancer. Pattern recognition for families with
HBOC/BRCA gene mutations was based on the NCCN Practice Guidelines
in Oncology--v. 1.2004. Pattern recognition for families with HNPCC
is based on the Amsterdam Criteria and the Revised Bethesda
Guidelines.
[0128] One of three levels of familial risk for a disease is
assigned. The three levels of risk for a disease can be represented
by uppercase letters: low or weak familial risk (A), moderate
familial risk (M), or strong or high familial risk (H).
[0129] Familial risk clarifiers for the ovarian cancer familial
risk matrices 1200, 1300, 1400, 1500, 1600, and 1700 include:
[0130] a=At least one family member with ovarian, breast, and colon
cancer. The combination of these cancers can be a sign of an
inherited form of ovarian cancer--either hereditary breast-ovarian
cancer or hereditary nonpolyposis colon cancer. [0131] b=At least
one family member with both ovarian and breast cancer. The
combination of these cancers is a risk factor for ovarian cancer
and can be a sign of an inherited form of ovarian cancer called
hereditary breast-ovarian cancer. [0132] c=At least one family
member with both ovarian and colon cancer. The combination of these
cancers can be a sign of an inherited form of ovarian cancer called
hereditary nonpolyposis colon cancer. [0133] e=Closely related
family members with both ovarian and breast cancer. The combination
of these cancers is a risk factor for ovarian cancer and can be a
sign of an inherited form of ovarian cancer called hereditary
breast-ovarian cancer. [0134] f=Closely related family members with
both ovarian and colon cancer. The combination of these cancers can
be a sign of an inherited form of ovarian cancer called hereditary
nonpolyposis colon cancer. [0135] g=Two or more close family
members with ovarian cancer. [0136] h=A family member with ovarian
cancer. [0137] i=At least one family member with breast cancer at a
young age. Although a different cancer, early-onset breast cancer
can be a risk factor for ovarian cancer and can be a sign of an
inherited form of ovarian cancer called hereditary breast-ovarian
cancer. [0138] j=Two or more closely related family members with
breast cancer. Although a different cancer, breast cancer can be a
risk factor for ovarian cancer and can be a sign of an inherited
form of ovarian cancer called hereditary breast-ovarian cancer.
[0139] k=Three or more closely related family members with breast
cancer. Although a different cancer, breast cancer can be a risk
factor for ovarian cancer and can be a sign of an inherited form of
ovarian cancer called hereditary breast-ovarian cancer. [0140] l=At
least one male family member with breast cancer, which can be a
sign of an inherited form of ovarian cancer called hereditary
breast-ovarian cancer. [0141] m=At least one family member with
colon cancer at a young age. Early-onset colon cancer can be a sign
of an inherited form of ovarian cancer called hereditary
nonpolyposis colon cancer. [0142] n=Two or more closely related
family members with colon cancer. Although a different cancer, a
family history of colon cancer can be a sign of an inherited form
of ovarian cancer called hereditary nonpolyposis colon cancer.
[0143] o=Some inherited forms of breast and ovarian cancer are more
common in Ashkenazi Jewish families, and this is noted if personal
health information collected included ethnicity.
Example 18
Exemplary Hierarchy of Presentation of Familial Risk Clarifiers in
Familial Risk Matrices for Determining Familial Risk of Ovarian
Cancer Based on Family Health
History
[0144] Familial risk clarifiers in familial risk matrices for
determining familial risk of ovarian cancer (according to example
12) based on family health history can be provided according to a
hierarchy. For example, a hierarchy utilizing familial risk
clarifiers described in example 12 can be as follows:
[0145] Familial risk clarifier "a" can be presented;
[0146] Familial risk clarifier "b" can be presented;
[0147] Familial risk clarifier "c" can be presented;
[0148] Familial risk clarifier "e" can be presented;
[0149] Familial risk clarifier "f" can be presented;
[0150] Familial risk clarifier "g" can be presented;
[0151] Familial risk clarifier "i" can be presented;
[0152] Familial risk clarifier "j" can be presented if familial
risk clarifier "k" is not presented;
[0153] Familial risk clarifier "k" can be presented;
[0154] Familial risk clarifier "l" can be presented;
[0155] Familial risk clarifier "m" can be presented;
[0156] Familial risk clarifier "n" can be presented; and
[0157] Familial risk clarifier "o" can be presented.
Example 19
Exemplary Familial Risk Matrices for Determining Familial Risk of
Colon Cancer Based on Family Health History
[0158] FIGS. 18-20 illustrate exemplary familial risk matrices
1800, 1900, and 2000 (according to the form of exemplary familial
risk matrix 800) for determining familial risk of colon cancer
based on family health history. Shaded areas of the matrices are
duplicative cells within each matrix.
[0159] In the example, the definition of age of onset of colon
cancer is defined as:
[0160] Colon cancer: early <age 50; late > or =age 50.
[0161] There are several familial/hereditary syndromes that feature
colon cancer, including polyposis and nonpolyposis syndromes. A
listing of single gene disorders that feature colon cancer can be
found in: Scheuner M T, Yoon P, Khoury M J. "Contribution of
mendelian disorders to common chronic disease: opportunities for
recognition, intervention and prevention." Am J Med Genet 2004;
125C:50-65. The most common familial syndrome is hereditary
nonpolyposis colon cancer (HNPCC), which is associated with
germline mutations in mismatch repair genes (most commonly MSH2 and
MLH1). These matrices recognize familial characteristics that are
associated with an increased risk of colon cancer, as well as
HNPCC. Pattern recognition for families with HNPCC is based on the
Amsterdam Criteria and the Revised Bethesda Guidelines.
[0162] One of three levels of familial risk for a disease is
assigned. The three levels of risk for a disease can be represented
by uppercase letters: low or weak familial risk (A), moderate
familial risk (M), or strong or high familial risk (H).
[0163] Familial risk clarifiers for the colon cancer familial risk
matrices 1800, 1900, and 2000 include:
a=At least one family member with both colon and ovarian cancer.
The combination of these cancers can be a sign of an inherited form
of colon cancer called hereditary nonpolyposis colon cancer.
b=Closely related family members with colon and ovarian cancer. The
combination of these cancers can be a sign of an inherited form of
colon cancer called hereditary nonpolyposis colon cancer. c=At
least one family member with colon cancer at a young age. d=Two or
more closely related family members with colon cancer. e=Three or
more closely related family members with colon cancer. f=Two or
more closely related family members with ovarian cancer. Although a
different cancer, a family history of ovarian cancer can be a sign
of an inherited form of colon cancer called hereditary nonpolyposis
colon cancer. g=A family member with colon cancer.
Example 20
Exemplary Hierarchy of Presentation of Familial Risk Clarifiers in
Familial Risk Matrices for Determining Familial Risk of Colon
Cancer Based on Family Health
History
[0164] Familial risk clarifiers in familial risk matrices for
determining familial risk of colon cancer (according to example 14)
based on family health history can be provided according to a
hierarchy. For example, a hierarchy utilizing familial risk
clarifiers described in example 14 can be as follows:
[0165] For example, a hierarchy can be as follows:
[0166] Familial risk clarifier "a" can be presented;
[0167] Familial risk clarifier "b" can be presented;
[0168] Familial risk clarifier "c" can be presented;
[0169] Familial risk clarifier "d" can be presented if familial
risk clarifier "e" is not presented;
[0170] Familial risk clarifier "e" can be presented;
[0171] Familial risk clarifier "f" can be presented; and
[0172] Familial risk clarifier "g" can be presented if: [0173]
Familial risk clarifier "a" is not presented; or Familial risk
clarifier "b" is not presented; or Familial risk clarifier "c" is
not presented; or Familial risk clarifier "d" is not presented; or
Familial risk clarifier "e" is not presented.
Example 21
Exemplary Familial Risk Matrices for Determining Familial Risk of
Coronary Heart Disease Based on Family Health History
[0174] FIGS. 21-26 illustrate exemplary familial risk matrices
2100, 2200, 2300, 2400, 2500, and 2600 (according to the form of
exemplary familial risk matrix 800) for determining familial risk
of coronary heart disease based on family health history. Shaded
areas of the matrices are duplicative cells within each matrix.
[0175] In the example, the definition of age of onset of coronary
heart disease is defined as:
[0176] Coronary heart disease: Men, early <age 55; late > or
=age 55. [0177] Women, early <age 65; late > or =age 65.
[0178] In the example, the definition of age of onset of stroke is
defined as:
[0179] Stroke: early <age 60; late > or =age 60.
[0180] In the example, the definition of age of onset of diabetes
is defined as:
[0181] Diabetes: Early (type 1)<age 20; late (Type 2)> or
=age 20.
[0182] Familial "syndromes" or phenotypes that feature coronary
heart disease (CHD) include: Metabolic syndrome which can feature
CHD, type 2 diabetes (DM) and stroke (CVA); CHD and stroke; and
CHD-specific families
[0183] A listing of single gene disorders that feature coronary
heart disease or myocardial infarction can be found in: Scheuner M
T, Yoon P, Khoury M J. "Contribution of mendelian disorders to
common chronic disease: opportunities for recognition, intervention
and prevention." Am J Med Genet 2004; 125C:50-65. Definitions of
metabolic syndrome have been proposed by three national
organizations: 1) NCEP ATPIII, 2) WHO (World Health Organization)
and the 3) American Association of Clinical Endocrinologists
(AACE). Although the metabolic syndrome is a familial disease and
genetic factors are associated with the phenotype, only the AACE
considers family history of type 2 diabetes, hypertension or
cardiovascular disease in their definition. For a review of the
definitions see Grundy S M, Brewer H B, Cleeman J I, Smith S C,
Lenfant C et al., "Definition of the metabolic syndrome." Report of
the National Heart, Lung, and Blood Institute/American Heart
Association Conference on Scientific Issues Related to Definition.
Circulation 2004; 109:433-438, hereby incorporated herein by
reference.
[0184] One of three levels of familial risk for a disease is
assigned. The three levels of risk for a disease can be represented
by uppercase letters: low or weak familial risk (A), moderate
familial risk (M), or strong or high familial risk (H).
[0185] Familial risk clarifiers for the coronary heart disease
familial risk matrices 2100, 2200, 2300, 2400, 2500, and 2600
include: [0186] a=At least one family member with coronary heart
disease, diabetes and stroke. The combination of these conditions
can be a sign of the metabolic syndrome. [0187] b=At least one
family member with coronary heart disease and diabetes. The
combination of these conditions can be a sign of the metabolic
syndrome. [0188] c=At least one family member with coronary heart
disease and stroke. The combination of these conditions is a risk
factor for coronary heart disease. [0189] d=At least one family
member with stroke and diabetes. The combination of these
conditions can be a sign of the metabolic syndrome. [0190]
e=Closely related family members with coronary heart disease and
diabetes. The combination of these conditions can be a sign of the
metabolic syndrome. [0191] f=Closely related family members with
coronary heart disease and stroke. The combination of these
conditions is a risk factor for coronary heart disease. [0192]
g=Closely related family members with stroke and diabetes. The
combination of these conditions can be a sign of the metabolic
syndrome. [0193] h=At least one family member with coronary heart
disease at a young age. Early-onset disease is a sign of a greater
number of cardiovascular risk factors. [0194] i=Two or more closely
related family members with coronary heart disease. [0195] j=Three
or more closely related family members with coronary heart disease.
[0196] k=Two or more closely related family members with diabetes,
which can be a sign of the metabolic syndrome. [0197] l=A family
member with diabetes, which can be a sign of the metabolic
syndrome. [0198] m=At least one family member with stroke at a
young age. Stroke and coronary heart disease share many risk
factors. Early-onset disease is a sign of a greater number of
cardiovascular risk factors. [0199] n=Two or more closely related
family members with stroke. Stroke and coronary heart disease share
many risk factors. [0200] o=A family member with coronary heart
disease. [0201] p=Closely related family members with coronary
heart disease, diabetes and stroke. The combination of these
conditions can be a sign of the metabolic syndrome.
Example 22
Exemplary Hierarchy of Presentation of Familial Risk Clarifiers in
Familial Risk Matrices for Determining Familial Risk of Coronary
Heart Disease Based on Family Health History
[0202] Familial risk clarifiers in familial risk matrices for
determining familial risk of coronary heart disease (according to
example 16) based on family health history can be provided
according to a hierarchy. For example, a hierarchy utilizing
familial risk clarifiers described in example 16 can be as
follows:
[0203] Familial risk clarifier "a" can be presented;
[0204] Familial risk clarifier "b" can be presented;
[0205] Familial risk clarifier "c" can be presented;
[0206] Familial risk clarifier "d" can be presented if familial
risk clarifier "e" is not presented;
[0207] Familial risk clarifier "e" can be presented if familial
risk clarifier "p" is not presented;
[0208] Familial risk clarifier "f" can be presented if familial
risk clarifier "p" is not presented;
[0209] Familial risk clarifier "g" can be presented if familial
risk clarifier "p" is not presented;
[0210] Familial risk clarifier "h" can be presented;
[0211] Familial risk clarifier "i" can be presented if familial
risk clarifier "j" is not presented;
[0212] Familial risk clarifier "j" can be presented;
[0213] Familial risk clarifier "k" can be presented;
[0214] Familial risk clarifier "l" can be presented if: [0215]
Familial risk clarifier "a" is not presented; or Familial risk
clarifier "b" is not presented; or Familial risk clarifier "d" is
not presented; or Familial risk clarifier "e" is not presented; or
Familial risk clarifier "g" is not presented; or Familial risk
clarifier "k" is not presented; or Familial risk clarifier "p" is
not presented;
[0216] Familial risk clarifier "m" can be presented;
[0217] Familial risk clarifier "n" can be presented;
[0218] Familial risk clarifier "o" can be presented if: [0219]
Familial risk clarifier "a" is not presented; or Familial risk
clarifier "b" is not presented; or Familial risk clarifier "c" is
not presented; or Familial risk clarifier "e" is not presented; or
Familial risk clarifier "f" is not presented; or Familial risk
clarifier "h" is not presented; or Familial risk clarifier "i" is
not presented; or Familial risk clarifier "j" is not presented; or
Familial risk clarifier "p" is not presented; and
[0220] Familial risk clarifier "p" can be presented if: [0221]
Familial risk clarifier "a" is not presented; or Familial risk
clarifiers "b" and "d" are not presented.
Example 23
Exemplary Familial Risk Matrices for Determining Familial Risk of
Stroke Based on Family Health History
[0222] FIGS. 27-32 illustrate exemplary familial risk matrices
2700, 2800, 2900, 3000, 3100, and 3200 (according to the form of
exemplary familial risk matrix 800) for determining familial risk
of stroke based on family health history. Shaded areas of the
matrices are duplicative cells within each matrix.
[0223] In the example, the definition of age of onset of stroke is
defined as:
[0224] Stroke: early <age 60; late > or =age 60.
[0225] In the example, the definition of age of onset of coronary
heart disease is defined as:
[0226] Coronary heart disease: Men, early <age 55; late > or
=age 55. [0227] Women, early <age 65; late > or =age 65.
[0228] In the example, the definition of age of onset of diabetes
is defined as:
[0229] Diabetes: Early (type 1)<age 20; late (Type 2)> or
=age 20.
[0230] Familial "syndromes" or phenotypes that feature stroke (CVA)
include:
[0231] Metabolic syndrome which can feature CHD, type 2 diabetes
(DM) and stroke (CVA);
[0232] Stroke and CHD; and
[0233] Stroke-specific families
A listing of single gene disorders that feature stroke can be found
in: Scheuner M T, Yoon P, Khoury M J. "Contribution of mendelian
disorders to common chronic disease: opportunities for recognition,
intervention and prevention." Am J Med Genet 2004; 125C:50-65.
Definitions of metabolic syndrome have been proposed by three
national organizations: 1) NCEP ATPIII, 2) WHO and the 3) American
Association of Clinical Endocrinologists (AACE). Although the
metabolic syndrome is a familial disease and genetic factors are
associated with the phenotype, only the AACE considers family
history of type 2 diabetes, hypertension or cardiovascular disease
in their definition. For a review of the definitions see Grundy S
M, Brewer H B, Cleeman T I, Smith S C, Lenfant C et al.,
"Definition of the metabolic syndrome." Report of the National
Heart, Lung, and Blood Institute/American Heart Association
Conference on Scientific Issues Related to Definition. Circulation
2004; 109:433-438.
[0234] One of three levels of familial risk for a disease is
assigned. The three levels of risk for a disease can be represented
by uppercase letters: low or weak familial risk (A), moderate
familial risk (M), or strong or high familial risk (H). [0235]
Familial risk clarifiers for the stroke familial risk matrices
2700, 2800, 2900, 3000, 3100, and 3200 include: [0236] a=At least
one family member with stroke, coronary heart disease and diabetes.
The combination of these conditions can be a sign of the metabolic
syndrome. [0237] b=At least one family member with stroke and
diabetes. The combination of these conditions can be a sign of the
metabolic syndrome. [0238] c=At least one family member with stroke
and coronary heart disease. The combination of these conditions is
a risk factor for stroke. [0239] d=At least one family member with
coronary heart disease and diabetes. The combination of these
conditions can be a sign of the metabolic syndrome. [0240]
e=Closely related family members with stroke and diabetes. The
combination of these conditions can be a sign of the metabolic
syndrome. [0241] f=Closely related family members with stroke and
coronary heart disease. The combination of these conditions is a
risk factor for stroke. [0242] g=Closely related family members
with coronary heart disease and diabetes. The combination of these
conditions can be a sign of the metabolic syndrome. [0243] h=At
least one family member with stroke at a young age. Early-onset
disease is a sign of a greater number of cardiovascular risk
factors. [0244] i=Two or more closely related family members with
stroke. [0245] j=Three or more closely related family members with
stroke. [0246] k=Two or more closely related family members with
coronary heart disease. Although a different type of disease,
coronary heart disease is a risk factor for stroke. [0247] l=At
least one family member with coronary heart disease at a young age.
Although a different disease, coronary heart disease is a risk
factor for stroke. Early-onset disease is a sign of a greater
number of cardiovascular risk factors. [0248] m=A family member
with coronary heart disease. Although a different disease, coronary
heart disease is a risk factor for stroke. [0249] n=Two or more
closely related family members with diabetes, which can be a sign
of the metabolic syndrome. [0250] o=A family member with stroke.
[0251] p=Closely related family members with stroke, coronary heart
disease and diabetes. The combination of these conditions can be a
sign of the metabolic syndrome.
Example 24
Exemplary Hierarchy of Presentation of Familial Risk Clarifiers in
Familial Risk Matrices for Determining Familial Risk of Coronary
Heart Disease Based on Family Health History
[0252] Familial risk clarifiers in familial risk matrices for
determining familial risk of coronary heart disease (according to
example 18) based on family health history can be provided
according to a hierarchy. For example, a hierarchy utilizing
familial risk clarifiers described in example 18 can be as
follows:
[0253] Familial risk clarifier "a" can be presented;
[0254] Familial risk clarifier "b" can be presented;
[0255] Familial risk clarifier "c" can be presented;
[0256] Familial risk clarifier "d" can be presented;
[0257] Familial risk clarifier "e" can be presented if familial
risk clarifier "p" is not presented;
[0258] Familial risk clarifier "f" can be presented if familial
risk clarifier "p" is not presented;
[0259] Familial risk clarifier "g" can be presented if familial
risk clarifier "p" is not presented;
[0260] Familial risk clarifier "h" can be presented;
[0261] Familial risk clarifier "i" can be presented if familial
risk clarifier "j" is not presented;
[0262] Familial risk clarifier "j" can be presented;
[0263] Familial risk clarifier "k" can be presented;
[0264] Familial risk clarifier "l" can be presented;
[0265] Familial risk clarifier "m" can be presented if: [0266]
Familial risk clarifier "a" is not presented; or Familial risk
clarifier "c" is not presented; or Familial risk clarifier "d" is
not presented; or Familial risk clarifier "f" is not presented; or
Familial risk clarifier "g" is not presented; or Familial risk
clarifier "k" is not presented; or Familial risk clarifier "l" is
not presented; or Familial risk clarifier "p" is not presented;
[0267] Familial risk clarifier "p" can be presented if: [0268]
Familial risk clarifier "a" is not presented; or Familial risk
clarifiers "b" and "d" are not presented.
Example 25
Exemplary Familial Risk Matrices for Determining Familial Risk of
Type 2 Diabetes Based on Family Health History
[0269] FIGS. 33-35 illustrate exemplary familial risk matrices
3300, 3400, and 3500, (according to the form of exemplary familial
risk matrix 800) for determining familial risk of type 2 diabetes
based on family health history. Shaded areas of the matrices are
duplicative cells within each matrix.
[0270] In the example, the definition of age of onset of diabetes
is defined as:
[0271] Diabetes: Early (type 1)<age 20; late (Type 2)> or
=age 20.
[0272] Type 2 diabetes aggregates in families, and family history
of type 2 diabetes is a significant risk factor for type 2
diabetes. Type 1 diabetes (usually diagnosed before age 20) is an
autoimmune disorder. Type 1 diabetes typically does not aggregate
in families and thus family history is not a significant risk
factor for this disorder. Additionally, a history of type 1
diabetes is not a significant risk factor for type 2 diabetes.
Therefore, when assessing familial risk for type 2 diabetes, the
familial risk matrices only consider diabetes diagnosed at or after
age 20.
[0273] These algorithms within the familial risk matrices 3300,
3400, and 3500 are designed to assess familial risk of type 2
diabetes (also known as adult-onset diabetes and non-insulin
dependent diabetes). Type 2 diabetes accounts for more then 90% of
all diabetes in adults. Most type 2 diabetes is due to insulin
resistance and these patients are at high risk for the conditions
associated with the metabolic syndrome (e.g., diabetes, coronary
heart disease, stroke, hypertension and dyslipidemia).
[0274] A listing of single gene disorders that feature diabetes can
be found in: Scheuner M T, Yoon P, Khoury M J. "Contribution of
mendelian disorders to common chronic disease: opportunities for
recognition, intervention and prevention." Am J Med Genet 2004;
125C:50-65.
[0275] One of three levels of familial risk for a disease is
assigned. The three levels of risk for a disease can be represented
by uppercase letters: low or weak familial risk (A), moderate
familial risk (M), or strong or high familial risk (H).
[0276] Familial risk clarifiers for the type 2 diabetes familial
risk matrices 3300, 3400, and 3500 include: [0277] a=Three or more
closely related family members with adult-onset diabetes. [0278]
b=Two or more closely related family members with adult-onset
diabetes. [0279] c=A family member with adult-onset diabetes.
Example 26
Exemplary Hierarchy of Presentation of Familial Risk Clarifiers in
Familial Risk Matrices for Determining Familial Risk of Type 2
Diabetes Based on Family Health History
[0280] Familial risk clarifiers in familial risk matrices for
determining familial risk of diabetes (according to example 20)
based on family health history can be provided according to a
hierarchy. For example, a hierarchy utilizing familial risk
clarifiers described in example 20 can be as follows:
[0281] Familial risk clarifier "a" can be presented;
[0282] Familial risk clarifier "b" can be presented if familial
risk clarifier a is not presented;
[0283] Familial risk clarifier "c" can be presented if: [0284]
Familial risk clarifier "a" is not presented; or Familial risk
clarifier "b" is not presented.
Example 27
Exemplary System for Determining a Disease Prevention Plan
[0285] FIG. 36 shows an exemplary system 3600 for determining a
disease prevention plan.
[0286] Health history collector 3602 can collect health history
information and input the information into a familial risk assessor
3604 to assess the familial risk of one or more diseases. For
example, electronic or paper-based questionnaires can be health
history collectors and familial risk matrices (as described in the
above examples) can be familial risk assessors. The familial risk
assessor 3604 can employ any of the methods described above.
[0287] A disease prevention plan presenter 3606 can receive
information from the health history information (e.g., demographic
information, health history information, behavior information,
participation in screening tests, and the like) and familial risk
assessor and present a disease prevention plan. An electronic or
paper-based report can be a disease prevention plan presenter. Such
reports can include familial disease risk, familial risk
clarifiers, pedigree presentation (e.g., a family tree display
indicating disease in family members) and recommendations for
screening tests, behavioral recommendations (e.g., changes or
affirmations), and the like. Exemplary health collectors and
disease prevention plan reports are shown in the examples
below.
Example 28
Exemplary Risk Scenarios
[0288] In any of the examples herein, risk scenarios can be
developed based on familial risk (e.g., as assessed by the disease
matrices described above) and personal health history information
collected. Recommendations can be made based on exemplary risk
scenarios to be included as part of a personalized disease
prevention plan for a subject.
Example 29
Exemplary Breast Cancer Disease Prevention Recommendations
[0289] An exemplary disease prevention plan (e.g., for use with
system 3600) based on breast cancer familial risk assessment and
screening questions is shown below. Screening questions can include
the following questions:
1) A clinical breast exam is when a doctor or other health
professional examines your breasts and feels for lumps and other
changes. Have you had a clinical breast exam? [0290] ______ Never
[0291] ______ Yes, within the past year [0292] ______ Yes, 1 to 2
years ago [0293] ______ Yes, 3 to 5 years ago [0294] ______ Yes, 6
to 10 years ago [0295] ______ Yes, more than 10 years ago [0296]
______ Don't know/Not sure 2) A mammogram is an x-ray of each
breast to look for early signs of breast cancer. Have you had a
mammogram? [0297] ______ Never [0298] ______ Yes, within the past
year [0299] ______ Yes, 1 to 2 years ago [0300] ______ Yes, 3 to 5
years ago [0301] ______ Yes, 6 to 10 years ago [0302] ______ Yes,
more than 10 years ago [0303] ______ Don't know/Not sure
[0304] The following risk scenarios are examples of exemplary
disease prevention plan recommendations based on answers to the
above questions and familial risk assessment. The following six
risk scenarios can occur if a subject has no prior history of
breast cancer and has not had screenings.
Risk Scenario 1.
[0305] If a female subject has not had either screening test, and
if the subject has weak familial risk for breast cancer and age=21
and has not had clinical breast exam within the past year, or user
age=22 and <40 and has not had clinical breast exam within past
1 to 2 years, then the following recommendation is provided:
[0306] Talk to your health professional about a breast exam and
when to get breast cancer screening.
[0307] A clinical breast exam is a breast cancer screening test
that may help detect breast cancer early, when it is most
treatable. Clinical breast exams are used in combination with
mammograms when you reach age 40 and older. Talk to your health
professional about breast cancer screening tests, and when and how
often you should be screened.
Risk Scenario 2.
[0308] If a female subject has not had a mammogram within the past
year and if the subject has weak familial risk for breast cancer
and age= or >41, then the following recommendation is
provided:
[0309] Schedule breast cancer screening today.
[0310] Mammograms and clinical breast exams are screening tests
that can help detect breast cancer early, when it is most
treatable. Talk to your health professional about scheduling breast
cancer screening at least every one to two years.
Risk Scenario 3.
[0311] If a female subject has moderate familial risk for breast
cancer and no personal history of breast cancer or ovarian cancer,
and age=21 and has not had a clinical breast exam or mammogram
within the past year, or subject age=22 or <40 and has not had
clinical breast exam or mammogram within the past 1 to 2 years,
then the following recommendation is provided:
[0312] You may benefit from breast cancer screening at a younger
age than is usually recommended. Talk to your health professional
about your family history, how it affects your breast cancer risk,
and your options for screening and prevention.
[0313] Clinical breast exams and mammograms are screening tests
that can help detect breast cancer early, when it is most
treatable. Mammograms are most effective and reliable when
performed in women age 40 and older. Due to your family history, a
mammogram at an earlier age or another type of screening test or
prevention option may be helpful. Talk to your health professional
about your risk of breast cancer, the best tests for you, and when
and how often you should be screened.
Risk Scenario 4.
[0314] If a female subject has moderate familial risk for breast
cancer and no personal history of breast cancer or ovarian cancer,
and age= or >41 and the subject has not had mammogram within
past year, then the following recommendation is provided:
[0315] Schedule breast cancer screening today. Talk to your health
professional about your family history, how it affects your breast
cancer risk, and your options for screening and prevention.
[0316] Mammograms and clinical breast exams are screening tests
that can help detect breast cancer early, when it is most
treatable. Due to your family history, other screening tests or
prevention options may be helpful. Talk to your health professional
about your risk of breast cancer, the best tests for you, and how
often you should be screened.
Risk Scenario 5.
[0317] If a female subject has high familial risk for breast cancer
and no personal history of breast cancer or ovarian cancer, and
age= or >21 and <40 and has not had a clinical breast exam
within the past year or has not had a mammogram within past year,
then the following recommendation is provided:
[0318] You may benefit from breast cancer screening at a younger
age than is usually recommended. Talk to your health professional
about your family history, how it affects your breast cancer risk,
and your options for screening and prevention.
[0319] Mammograms and clinical breast exams are screening tests
that can help detect breast cancer early, when it is most
treatable. Mammograms are most effective and reliable when
performed in women age 40 and older. Due to your family history, a
mammogram at an earlier age may be helpful. There are also other
ways to screen for and prevent breast cancer among women with the
highest risk. Talk to your health professional about your breast
cancer risk, the best tests for you, and when and how often you
should be screened.
Risk Scenario 6.
[0320] If a female subject has high familial risk for breast cancer
and no personal history of breast cancer or ovarian cancer, and
age= or >41 and has not had mammogram within past year, then the
following recommendation is provided:
[0321] Schedule breast cancer screening today. Talk to your health
professional about your family history, how it affects your breast
cancer risk, and your options for screening and prevention.
[0322] Mammograms and clinical breast exams are screening tests
that help detect breast cancer early, when it is most treatable.
There are also other ways to screen for and prevent breast cancer
among women with the highest risk. Talk to your health professional
about your risk of breast cancer, the best tests for you, and how
often you should be screened.
[0323] The following four risk scenarios can occur if a subject has
had screenings:
Risk Scenario 1.
[0324] If a female subject has moderate familial risk for breast
cancer and no personal history of breast cancer or ovarian cancer,
and age=21 and has had clinical breast exam or mammogram within the
past year, or user age=22 or <40 and has had clinical breast
exam or mammogram within past 1 to 2 years, then the following
recommendation is provided:
[0325] Continue breast cancer screening. Talk to your health
professional about your family history, how it affects your breast
cancer risk, and your options for screening and prevention.
[0326] Clinical breast exams and mammograms are screening tests
that can help detect breast cancer early, when it is most
treatable. Mammograms are most effective and reliable when
performed in women age 40 and older. Due to your family history, a
mammogram at an earlier age or another type of screening test or
prevention option may be helpful. Talk to your health professional
about your risk of breast cancer, the best tests for you, and how
often you should be screened.
Risk Scenario 2.
[0327] If a female subject has moderate familial risk for breast
cancer and no personal history of breast cancer or ovarian cancer,
and age= or >41 and has had mammogram within past year, then the
following recommendation is provided:
[0328] Continue breast cancer screening. Talk to your health
professional about your family history, how it affects your breast
cancer risk, and your options for screening and prevention.
[0329] Mammograms and clinical breast exams are screening tests
that can help detect breast cancer early, when it is most
treatable. Due to your family history, other screening tests or
prevention options may be helpful. Talk to your health professional
about your risk of breast cancer, the best tests for you, and how
often you should be screened.
Risk Scenario 3.
[0330] If a female subject has high familial risk for breast cancer
and no personal history of breast cancer or ovarian cancer, and
age= or >21 and <40 and has had clinical breast exam within
the past year or has had mammogram within past year, then the
following recommendation is provided:
[0331] Continue breast cancer screening. Talk to your health
professional about your family history, how it affects your breast
cancer risk, and your options for screening and prevention.
[0332] Mammograms and clinical breast exams are screening tests
that can help detect breast cancer early, when it is most
treatable. Mammograms are most effective and reliable when
performed in women age 40 and older. Due to your family history, a
mammogram at an earlier age may be helpful. There are also other
ways to screen for and prevent breast cancer among women with the
highest risk. Talk to your health professional about your risk of
breast cancer, the best tests for you, and how often you should be
screened.
Risk Scenario 4.
[0333] If a female subject has high familial risk for breast cancer
and no personal history of breast cancer or ovarian cancer, and
age= or >41 and has had mammogram within past year, then the
following recommendation is provided:
[0334] Continue breast cancer screening. Talk to your health
professional about your family history, how it affects your breast
cancer risk, and your options for screening and prevention.
[0335] Mammograms and clinical breast exams are screening tests
that can help detect breast cancer early, when it is most
treatable. There are also other ways to screen for and prevent
breast cancer among women with the highest risk. Talk to your
health professional about your risk of breast cancer, the best
tests for you, and how often you should be screened.
Example 30
Exemplary Ovarian Cancer Disease Prevention Recommendations
[0336] An exemplary disease prevention plan (according to system
3600) based on familial risk assessment is shown below. The
following risk scenarios are examples of exemplary disease
prevention plan recommendations based ovarian familial risk
assessment. The following two risk scenarios can occur if a female
subject has not had screenings.
Risk Scenario 1.
[0337] If a female subject has a moderate familial risk for ovarian
cancer and age= or >20 and no personal history of ovarian cancer
or breast cancer, then the following recommendation is
provided:
[0338] Screening tests are sometimes offered to women with an
increased risk of ovarian cancer. Talk to your health professional
about your family history, how it affects your ovarian cancer risk,
and your options for screening and prevention.
[0339] Available tests for ovarian cancer screening include a blood
test called CA-125 and ultrasound of the ovaries. These tests can
be used alone or in combination. Talk to your health professional
about your risk of ovarian cancer, the benefits and limits of the
available tests, and which prevention and screening options are
best for you.
Risk Scenario 2.
[0340] If a female subject has a high familial risk for ovarian
cancer and age= or >20 and no personal history of ovarian cancer
or breast cancer, then the following recommendation is
provided:
[0341] Screening tests are sometimes offered to women with an
increased risk of ovarian cancer. Talk to your health professional
about your family history, how it affects your ovarian cancer risk,
and your options for screening and prevention.
[0342] Available tests for ovarian cancer screening include a blood
test called CA-125 and ultrasound of the ovaries. These tests can
be used alone or in combination. Because your family history is a
strong risk factor for ovarian cancer, these tests may be
recommended. Talk to your health professional about your risk of
ovarian cancer, the benefits and limits of the available tests, and
which prevention and screening options are best for you.
Example 31
Exemplary Colon Cancer Disease Prevention Recommendations
[0343] An exemplary disease prevention plan (according to system
3600) based on colon cancer familial risk assessment and screening
questions is shown below. Screening questions can include the
following questions:
1) A fecal occult blood test ("FOBT") is a test kit that you
receive from your health professional. At home, you put a small
piece of stool on a test card. You do this for three bowel
movements in a row. Then you return the test cards to the health
professional or lab. The stool samples are checked for blood. Have
you had a fecal occult blood test? [0344] ______ Never [0345]
______ Yes, within the past year [0346] ______ Yes, 1 to 2 years
ago [0347] ______ Yes, 3 to 5 years ago [0348] ______ Yes, 6 to 10
years ago [0349] ______ Yes, more than 10 years ago [0350] ______
Don't know/Not sure 2) A colonoscopy is an examination that checks
the entire colon. A tube is inserted in the rectum to view the
bowel for signs of cancer or other health problems. Heavy sedation
or pain medication usually is required. Have you had a colonoscopy?
[0351] ______ Never [0352] ______ Yes, within the past year [0353]
______ Yes, 1 to 2 years ago [0354] ______ Yes, 3 to 5 years ago
[0355] ______ Yes, 6 to 10 years ago [0356] ______ Yes, more than
10 years ago [0357] ______ Don't know/Not sure 3) A sigmoidoscopy
is an examination that checks the lower part of the colon. A tube
is inserted in the rectum to view the bowel for signs of cancer or
other health problems. Heavy sedation or pain medication usually is
not required. Have you had a sigmoidoscopy? [0358] ______ Never
[0359] ______ Yes, within the past year [0360] ______ Yes, 1 to 2
years ago [0361] ______ Yes, 3 to 5 years ago [0362] ______ Yes, 6
to 10 years ago [0363] ______ Yes, more than 10 years ago [0364]
______ Don't know/Not sure
[0365] The following risk scenarios are examples of exemplary
disease prevention plan recommendations based on answers to the
above questions and colon cancer familial risk assessment. The
following six risk scenarios can occur if a subject has not had
screenings.
Risk Scenario 1.
[0366] If a subject has average familial risk for colon cancer and
age=51 and has not had FOBT or sigmoidoscopy or colonoscopy within
past year; or age=52 and has not had FOBT within past year, or
sigmoidoscopy or colonoscopy; or within past 1 to 2 years; or
age=53 and has not had FOBT within past year, or sigmoidoscopy or
colonoscopy within past 3 to 5 years; or age=54 and has not had
FOBT within past year, or sigmoidoscopy or colonoscopy within past
3 to 5 years; or age=55 and has not had FOBT within past year, or
sigmoidoscopy or colonoscopy within past 3 to 5 years; or age=56
and has not had FOBT within past year, or sigmoidoscopy in past 3
to 5 years, or colonoscopy in past 6 to 10 years; or age=57 and has
not had FOBT within past year, or sigmoidoscopy within past 3 to 5
years, or colonoscopy within past 6 to 10 years; or age=58 and has
not had FOBT within past year, or sigmoidoscopy within past 3 to 5
years, or colonoscopy within past 6 to 10 years; or age=59 and has
not had FOBT within past year, or sigmoidoscopy within past 3 to 5
years, or colonoscopy within past 6 to 10 years; or age= or >60
and has not had FOBT within past year, or sigmoidoscopy within past
3 to 5 years, or colonoscopy within past 6 to 10 years, then the
following recommendation is provided:
[0367] Schedule a colon cancer screening test today.
[0368] Colon cancer screening can help find colon cancer early,
when it is most treatable. It also can detect polyps (small
growths), which can be removed to prevent colon cancer. Colon
cancer screening can involve a home stool test kit, sigmoidoscopy,
double-contrast barium enema, and/or colonoscopy. These tests can
be done alone or in combination. Usually, a home stool test is done
every year, sigmoidoscopy at least every 5 years, double-contrast
barium enema at least every 5 years, and colonoscopy at least every
10 years. Talk to your health professional about your risk of colon
cancer, the tests that are best for you, and when and how often you
should be screened.
Risk Scenario 2.
[0369] If a subject has moderate familial risk for colon cancer and
no personal history of colon cancer and age=20 and <41, then the
following recommendation is provided:
[0370] You may benefit from colon cancer screening tests at a
younger age than usually is recommended. Talk to your health
professional about your family history, how it affects your colon
cancer risk, and your options for screening and prevention.
[0371] Colon cancer screening can help find colon cancer early,
when it is most treatable. It also can detect polyps (small
growths), which can be removed to prevent colon cancer. Colon
cancer screening tests include: a home stool test kit,
sigmoidoscopy, double-contrast barium enema, and/or colonoscopy.
These tests can be done alone or in combination, and are usually
recommended for people aged 50 and older. However, people with an
increased risk due to family history often start testing at age 40.
Usually, a home stool test is done every year, sigmoidoscopy at
least every 5 years, double-contrast barium enema at least every 5
years, and colonoscopy at least every 10 years. Talk to your health
professional about your risk of colon cancer, the tests that are
best for you, and when and how often you should be screened.
Risk Scenario 3.
[0372] If a subject has moderate familial risk for colon cancer and
no personal history of colon cancer and age=41 and has not had FOBT
or sigmoidoscopy or colonoscopy within past year; or age=42 and has
not had FOBT within past year, or sigmoidoscopy or colonoscopy
within past 1 to 2 years; or age=43 and has not had FOBT within
past year, or sigmoidoscopy or colonoscopy within past 3 to 5
years; or age=44 and has not had FOBT within past year, or
sigmoidoscopy or colonoscopy within past 3 to 5 years; or age=45
and has not had FOBT within past year, or sigmoidoscopy or
colonoscopy in past 3 to 5 years; or age=46 and has not had FOBT
within past year, or sigmoidoscopy within past 3 to 5 years, or
colonoscopy within past 6 to 10 years; or age=47 and has not had
FOBT within past year, or sigmoidoscopy within past 3 to 5 years,
or colonoscopy in past 6 to 10 years; or
age=48 and has not had FOBT within past year, or sigmoidoscopy
within past 3 to 5 years, or colonoscopy within past 6 to 10 years;
or age=49 and has not had FOBT within past year, or sigmoidoscopy
within past 3 to 5 years, or colonoscopy within past 6 to 10 years,
then the following recommendation is provided:
[0373] You may benefit from colon cancer screening tests at a
younger age than usually is recommended. Talk to your health
professional about your family history, how it affects your colon
cancer risk, and your options for screening and prevention.
[0374] Colon cancer screening can help find colon cancer early,
when it is most treatable. It also can detect polyps (small
growths), which can be removed to prevent colon cancer. Colon
cancer screening tests include: a home stool test kit,
sigmoidoscopy, double-contrast barium enema, and/or colonoscopy.
These tests can be done alone or in combination, and are usually
recommended for people aged 50 and older. However, people with an
increased risk due to family history often start testing at age 40.
Usually, a home stool test is done every year, sigmoidoscopy at
least every 5 years, double-contrast barium enema at least every 5
years, and colonoscopy at least every 10 years. Talk to your health
professional about your risk of colon cancer, the tests that are
best for you, and when and how often you should be screened.
Risk Scenario 4.
[0375] If a subject has moderate familial risk for colon cancer and
no personal history of colon cancer and their age= or >50 and
has not had FOBT within past year, or sigmoidoscopy within past 3
to 5 years, or colonoscopy within past 6 to 10 years then the
following recommendation is provided:
[0376] Schedule a colon cancer screening test today. Talk to your
health professional about your family history, how it affects your
colon cancer risk, and your options for screening and
prevention.
[0377] Colon cancer screening can help find colon cancer early,
when it is most treatable. It also can detect polyps (small
growths), which can be removed to prevent colon cancer. Colon
cancer screening tests include: a home stool test kit,
sigmoidoscopy, double-contrast barium enema, and/or colonoscopy.
These tests can be done alone or in combination and are usually
recommended for people aged 50 and older. Usually, a home stool
test is done every year, sigmoidoscopy at least every 5 years,
double-contrast barium enema at least every 5 years, and
colonoscopy at least every 10 years. Talk to your health
professional about your risk of colon cancer, the tests that are
best for you, and how often you should be screened.
Risk Scenario 5.
[0378] If a subject has high (e.g., strong) familial risk for colon
cancer and no personal history of colon cancer and age=20 to 30,
then the following recommendation is provided:
[0379] You may benefit from colon cancer screening tests at a
younger age than usually is recommended. Talk to your health
professional about your family history, how it affects your colon
cancer risk, and your options for screening and prevention.
[0380] Colon cancer screening can help find colon cancer early,
when it is most treatable. It also can detect polyps (small
growths), which can be removed to prevent colon cancer. Because of
your high risk, colonoscopy may be the best screening test for you.
Other screening tests include a home stool test kit, sigmoidoscopy,
and double-contrast barium enema. While colon cancer screening is
usually recommended for people aged 50 and older, people with an
increased risk due to family history often start testing at age 40,
and families with the highest risk sometimes start testing as early
as age 20 to 30. Talk to your health professional about your risk
of colon cancer, the tests that are best for you, and when and how
often you should be screened.
Risk Scenario 6.
[0381] If a subject has high (e.g., strong) familial risk for colon
cancer and no personal history of colon cancer and age=31 and has
not had colonoscopy within past year; or age=32 and has not had
colonoscopy within past 1 to 2 years; or age=33 and has not had
colonoscopy within past 3 to 5 years; or age=34 and has not had
colonoscopy within past 3 to 5 years; or age= or >35 and has not
had colonoscopy within past 3 to 5 years, then the following
recommendation is provided:
[0382] You may benefit from colon cancer screening tests at a
younger age than usually is recommended. Talk to your health
professional about your family history, how it affects your colon
cancer risk, and your options for screening and prevention.
Colon cancer screening can help find colon cancer early, when it is
most treatable. It also can detect polyps (small growths), which
can be removed to prevent colon cancer. Because of your high risk,
colonoscopy may be the best screening test for you. Other screening
tests include a home stool test kit, sigmoidoscopy, and
double-contrast barium enema. While colon cancer screening is
usually recommended for people aged 50 and older, people with
increased risk due to family history often start testing at age 40,
and families with the highest risk sometimes start testing as early
as age 20 to 30. Talk to your health professional about your risk
of colon cancer, the tests that are best for you, and when and how
often you should be screened.
[0383] The following two risk scenarios can occur if a subject has
had screenings.
Risk Scenario 1.
[0384] If a subject has moderate familial risk for colon cancer and
no personal history of colon cancer, and age=41 and has had FOBT or
sigmoidoscopy or colonoscopy within past year; or age=42 and has
had FOBT within past year, or sigmoidoscopy or colonoscopy within
past 1 to 2 years; or age=43 and has had FOBT within past year, or
sigmoidoscopy or colonoscopy within past 3 to 5 years; or age=44
and has had FOBT within past year, or sigmoidoscopy or colonoscopy
within past 3 to 5 years; or age=45 and has had FOBT within past
year, or sigmoidoscopy or colonoscopy within past 3 to 5 years; or
age=46 and has had FOBT within past year, or sigmoidoscopy within
past 3 to 5 years, or colonoscopy within past 6 to 10 years; or
age=47 and has had FOBT within past year, or sigmoidoscopy within
past 3 to 5 years, or colonoscopy within past 6 to 10 years; or
age=48 and has had FOBT within past year, or sigmoidoscopy within
past 3 to 5 years, or colonoscopy within past 6 to 10 years; or
age=49 and has had FOBT within past year, or sigmoidoscopy within
past 3 to 5 years, or colonoscopy within past 6 to 10 years; or
age= or >50 and has had FOBT within past year, or sigmoidoscopy
within past 3 to 5 years, or colonoscopy within past 6 to 10 years,
then the following recommendation is provided:
[0385] Continue colon cancer screening. Talk to your health
professional about your family history, how it affects your colon
cancer risk, and your options for screening and prevention.
[0386] Colon cancer screening can help find colon cancer early,
when it is most treatable. It also can detect polyps (small
growths), which can be removed to prevent colon cancer. Colon
cancer screening tests include: a home stool test kit,
sigmoidoscopy, double-contrast barium enema, and/or colonoscopy.
These tests can be done alone or in combination, and are usually
recommended for people aged 50 and older. However, people with an
increased risk due to family history often start testing at age 40.
Usually, a home stool test is done every year, sigmoidoscopy at
least every 5 years, double-contrast barium enema at least every 5
years, and colonoscopy at least every 10 years. Talk to your health
professional about your risk of colon cancer, the screening tests
that are best for you, and how often you should be screened.
Risk Scenario 2.
[0387] If a subject has high (e.g., strong) familial risk for colon
cancer and no personal history of colon cancer, and age=31 and has
had colonoscopy within past year; or age=32 and has had colonoscopy
within past 1 to 2 years; or age=33 and has had colonoscopy within
past 3 to 5 years; or age=34 and has had colonoscopy within past 3
to 5 years; or age= or >35 and has had colonoscopy within past 3
to 5 years, then the following recommendation is provided:
[0388] Continue colon cancer screening. Talk to your health
professional about your family history, how it affects your colon
cancer risk, and your options for screening and prevention.
[0389] Colon cancer screening can help find colon cancer early,
when it is most treatable. It also can detect polyps (small
growths), which can be removed to prevent colon cancer. Because of
your high risk, colonoscopy may be the best screening test for you.
Other screening tests include a home stool test kit, sigmoidoscopy,
and double-contrast barium enema. While colon cancer screening is
usually recommended for people aged 50 and older, people with
increased risk due to family history often start testing at age 40,
and families with the highest risk sometimes start testing as early
as age 20 to 30. Talk to your health professional about your risk
of colon cancer, the screening tests that are best for you, and how
often you should be screened.
Example 32
[0390] Exemplary Coronary Heart Disease and Stroke Prevention
[0391] Recommendations An exemplary disease prevention plan
(according to system 3600) based on coronary heart disease and/or
stroke familial risk assessment and screening questions is shown
below. A blood cholesterol screening question can include the
following question:
1) Blood cholesterol is a fatty substance found in the blood. Have
you had your blood cholesterol checked by a health professional?
[0392] ______ Never [0393] ______ Yes, within the past year [0394]
______ Yes, 1 to 2 years ago [0395] ______ Yes, 3 to 5 years ago
[0396] ______ Yes, 6 to 10 years ago [0397] ______ Yes, more than
10 years ago [0398] ______ Don't know/Not sure
[0399] The following three risk scenarios can occur if a subject
has not had screenings.
Risk Scenario 1.
[0400] If a subject is a woman and has weak familial risk for
coronary artery disease and stroke, and age= or >46 and has not
had cholesterol test within the past year; or age=47 and has not
had cholesterol tested in the past 2 years; or age=48 and has not
had cholesterol tested in past 3 years; or age=49 and has not had
cholesterol tested in past 4 years; or age= or >50 and has not
had cholesterol tested in past 5 years, then the following
recommendation is provided:
[0401] Get your cholesterol tested.
[0402] Your cholesterol testing should include a measure of your
total cholesterol, low density lipoprotein (the "bad" cholesterol),
high density lipoprotein (the "good" cholesterol), and
triglycerides. If your cholesterol levels are high or abnormal,
changing your lifestyle and/or taking medication can reduce your
risk of coronary heart disease and stroke. Ask your health
professional how often you should test your cholesterol. This will
depend on your cholesterol levels, other risk factors, and if you
already are being treated for cholesterol problems.
Risk Scenario 2.
[0403] If a subject is a man and has low (e.g., weak) familial risk
for coronary artery disease and stroke, and age= or >36 and has
not had cholesterol test within past year; or age=37 and has not
had cholesterol tested in past 2 years; or age=38 and has not had
cholesterol tested in past 3 years; or age=39 and has not had
cholesterol tested in past 4 years; or age= or >40 and has not
had cholesterol tested in past 5 years, then the following
recommendation is provided:
[0404] Get your cholesterol tested.
[0405] Your cholesterol testing should include a measure of your
total cholesterol, low density lipoprotein (the "bad" cholesterol),
high density lipoprotein (the "good" cholesterol), and
triglycerides. If your cholesterol levels are high or abnormal,
changing your lifestyle and/or taking medication can reduce your
risk of coronary heart disease and stroke. Ask your health
professional how often you should test your cholesterol. This will
depend on your cholesterol levels, other risk factors, and if you
already are being treated for cholesterol problems.
Risk Scenario 3.
[0406] If a subject has moderate or high (e.g., strong) familial
risk for coronary heart disease or stroke and no personal history
of coronary heart disease, stroke or diabetes, and age=21 and has
not had cholesterol test within the past year; or age=22 and has
not had cholesterol test within past 1 to 2 years; or age=23 and
has not had cholesterol test within past 2 to 5 years; or age=24
and has not had cholesterol test within past 2 to 5 years; or age=
or >25 and has not had cholesterol test within past 5 years,
then the following recommendation is provided:
[0407] Get your cholesterol tested. Talk to your health
professional about your family history, how it affects your risk of
coronary heart disease or stroke, and your options for screening
and prevention.
[0408] Your cholesterol testing should include a measure of your
total cholesterol, low density lipoprotein (the "bad" cholesterol),
high density lipoprotein (the "good" cholesterol), and
triglycerides. If your cholesterol levels are high or abnormal,
changing your lifestyle and/or taking medication can reduce your
risk of coronary heart disease and stroke. Due to your increased
risk, you may need to test for other cardiovascular risk factors.
Ask your health professional how often you should test your
cholesterol. This will depend on your cholesterol levels, other
risk factors, and if you already are being treated for cholesterol
problems.
[0409] The following risk scenario can occur if a subject has had
cholesterol screenings.
Risk Scenario 1.
[0410] If a subject has moderate or high (e.g., strong) familial
risk for coronary heart disease or stroke and no personal history
of coronary heart disease, stroke or diabetes, and age=21 and has
had cholesterol test in past year; or age=22 and has had
cholesterol test in past 2 years; or age=23 and has had cholesterol
test in past 3 years; or age=24 and has had cholesterol test in
past 4 years; or age= or >25 and has had cholesterol test in
past 5 years, then the following recommendation is provided:
[0411] Continue cholesterol testing. Talk to your health
professional about your family history, how it affects your risk of
<coronary heart disease or stroke>, and your options for
screening and prevention.
[0412] Your cholesterol testing should include a measure of your
total cholesterol, low density lipoprotein (the "bad" cholesterol),
high density lipoprotein (the "good" cholesterol), and
triglycerides. If your cholesterol levels are high or abnormal,
changing your lifestyle and/or taking medication can reduce your
risk of coronary heart disease and stroke. Due to your increased
risk, you may need to test for other cardiovascular risk factors.
Ask your health professional how often you should test your
cholesterol. This will depend on your cholesterol levels, other
risk factors, and if you already are being treated for cholesterol
problems.
[0413] Similarly, a blood screening question can include the
following question:
1) Have you had your blood pressure checked by a health
professional? [0414] ______ Never [0415] ______ Yes, within the
past year [0416] ______ Yes, 1 to 2 years ago [0417] ______ Yes, 3
to 5 years ago [0418] ______ Yes, 6 to 10 years ago [0419] ______
Yes, more than 10 years ago [0420] ______ Don't know/Not sure
[0421] The following two risk scenarios can occur if a subject has
had blood pressure screening:
Risk Scenario 1.
[0422] If a subject has low (e.g., weak) familial risk for coronary
heart disease and stroke, and has not had blood pressure checked in
past year, and age= or >19, then the following recommendation is
provided:
[0423] Get your blood pressure checked.
[0424] If your blood pressure is high, changing your lifestyle
and/or taking medication can lower your blood pressure and reduce
your risk of coronary heart disease and stroke. Ask your health
professional how often you should check your blood pressure. This
will depend on your blood pressure levels, other health problems,
and if you already are being treated for high blood pressure.
Risk Scenario 2.
[0425] If a subject has moderate or high (e.g., strong) familial
risk for coronary heart disease or stroke and has no personal
history of coronary heart disease, stroke or diabetes, and has not
had blood pressure checked in past year, and age= or >19, then
the following recommendation is provided:
[0426] Get your blood pressure checked. Talk to your health
professional about your family history, how it affects your risk of
<coronary heart disease or stroke>, and your options for
screening and prevention.
[0427] If your blood pressure is high, changing your lifestyle
and/or taking medication can lower your blood pressure and reduce
your risk of coronary heart disease and stroke. Ask your health
professional how often you should check your blood pressure. This
will depend on your blood pressure levels, other health problems,
and if you already are being treated for high blood pressure.
[0428] The following risk scenario can occur if a subject has had
blood pressure screening:
Risk Scenario 1.
[0429] If a subject has moderate or high (e.g., strong) familial
risk for coronary heart disease or stroke and has no personal
history of coronary heart disease, stroke and diabetes, and has had
blood pressure checked in past year, and age= or >19, then the
following recommendation is provided:
[0430] Continue to check your blood pressure. Talk to your health
professional about your family history, how it affects your risk of
<coronary heart disease or stroke>, and your options for
screening and prevention.
[0431] If your blood pressure is high, changing your lifestyle
and/or taking medication can lower your blood pressure and reduce
your risk of coronary heart disease and stroke. Ask your health
professional how often you should check your blood pressure. This
will depend on your blood pressure levels, other health problems,
and if you already are being treated for high blood pressure.
Example 33
Exemplary Diabetes Prevention Recommendations
[0432] An exemplary disease prevention plan (according to system
3600) based on diabetes familial risk assessment and a screening
question is shown below. A blood glucose screening question can
include the following question:
1) A blood sugar test is a blood test that looks for and measures
your blood glucose or blood sugar. Have you had your blood sugar
tested by a health professional? [0433] ______ Never [0434] ______
Yes, within the past year [0435] ______ Yes, 1 to 2 years ago
[0436] ______ Yes, 3 to 5 years ago [0437] ______ Yes, 6 to 10
years ago [0438] ______ Yes, more than 10 years ago [0439] ______
Don't know/Not sure
[0440] The following risk scenario can occur:
Risk Scenario 1.
[0441] If a subject has moderate or high (e.g., strong) familial
risk for diabetes, coronary heart disease and/or stroke and no
personal history of diabetes, coronary heart disease or stroke, and
has not had their blood sugar tested in the past 2 years and age
> or =22, then the following recommendation is provided:
[0442] You may benefit from blood sugar testing because of your
family history. Talk to your health professional about your blood
sugar and how it affects your risk of disease.
[0443] Elevated blood sugar is a sign of diabetes, and it can
increase the risk of coronary heart disease and stroke. If you have
elevated blood sugar, you can lower it by changing your lifestyle
and/or taking medication. In addition, your health professional may
closely monitor and manage other cardiovascular risk factors like
blood pressure and cholesterol. These steps may reduce your chances
of coronary heart disease and stroke. Ask your health professional
about scheduling a blood sugar test.
Example 34
Exemplary General Screening Test Recommendations Based Upon
Familial Risk Assessment
[0444] Exemplary disease prevention plan (e.g. a disease prevention
plan according to system 3600) general gender-specific screening
test recommendations including when to begin and interval of
screening based on familial risk assessment are shown in Table 1.
Screening test recommendations can be further based on available
guidelines (e.g., guidelines from the U.S. Preventive Services Task
Force, National Cancer Institute, National Heart, Lung and Blood
Institute, American Cancer Society, and the American Hearth
Association and the like). The screening test recommendations
provided can be presented as part of a complete overall disease
prevention plan for a subject, or by one or more diseases of
interest.
TABLE-US-00001 TABLE 1 Screening Disease Test Risk Status
RECOMMENDEDATION PROVIDED Heart Cholesterol Average/Weak For women,
screening should begin at age 45 Disease & with a frequency of
at least every 5 years Stroke For men, screening should begin at
age 35 with a frequency of at least every 5 years Moderate For men
and women, screening should begin at age 20 with a frequency of at
least every 5 years High/Strong For men and women, screening should
begin at age 20 with a frequency of at least every 5 years Blood
Pressure Average For men and women, screening should begin at age
18 with a frequency of at least every year Moderate For men and
women, screening should begin at age 18 with a frequency of at
least every year High For men and women, screening should begin at
age 18 with a frequency of at least every year Blood Glucose
Average No message Moderate For men and women, screening should
begin at age 20 with a frequency of at least every two years High
For men and women, screening should begin at age 20 with a
frequency of at least every two years Diabetes Blood Glucose
Average No message Moderate For men and women, screening should
begin at age 20 with a frequency of at least every two years High
For men and women, screening should begin at age 20 with a
frequency of at least every two years Breast CBE Average For women
between ages 20 to 40, screening Cancer MG with CBE is an option
beginning at age 20 with a frequency of every 1-2 years. For women
age 40 and older, screening with mammography should begin at age 40
with a frequency of every 1-2 years. (CBE every 1 to 2 years is
also suggested). Moderate For women between ages 20 to 40,
screening with CBE and/or mammogram may be an option with a
frequency of every 1-2 years For women age 40 and older, screening
with mammography should begin at age 40 with a frequency of every
year. (CBE every 1 to 2 years is also suggested) High For women
between ages 20 to 40, screening with CBE and/or mammography mat be
an option with a frequency of every year. For women age 40 and
older, screening with mammography should begin at age 40 with a
frequency of every year. Ovarian CA-125 Average No Message Cancer
Transvaginal Moderate For women beginning age at 20, discuss
Ultrasound screening (i.e., CA125, TVUS) with health professional.
High For women beginning at age 20, discuss screening (i.e., CA125,
TVUS) with health professional Colon FOBT Average For men and
women, begin screening at age 50. Cancer Flex Sig Frequency of
screening with FOBT every year; DCBE with flexible sigmoidoscopy at
least every 5 Colonoscopy years; with DCBE at least every 5 years;
and with colonoscopy at least every 10 years. Moderate For men and
women between ages 20 to 40, discuss screening with health
professional. For men and women, begin screening at age 40.
Frequency of screening with FOBT every year; with flexible
sigmoidoscopy at least every 5 years; with DCBE at least every 5
years; and with colonoscopy at least every 10 years. High For men
and women between ages 20 to 30, discuss screening with health
professional For men and women age 30 and older, begin screening
with colonoscopy at age 30 with a frequency of at least every 5
years. (Other screening modalities are suggested as options.)
Example 35
Exemplary General Lifestyle/Behavior Recommendations Based Upon
Familial Risk Assessment and Personal Health History
[0445] Exemplary disease prevention plan (e.g. a disease prevention
plan according to system 3600) gender and age-based
lifestyle/behavior recommendations based on familial risk
assessment and personal health history are shown in Table 2.
Lifestyle/Behavior recommendations can be further based on
available guidelines (e.g., guidelines from the U.S. Preventive
Services Task Force, National Cancer Institute, National Heart,
Lung and Blood Institute, American Cancer Society, and the American
Hearth Association and the like). The lifestyle/behavior
recommendations provided can be presented as part of a complete
overall disease prevention plan for a subject, or by one or more
diseases of interest.
TABLE-US-00002 TABLE 2 Lifestyle/ Linked to Risk Behavior Disease?
Status RECOMMENDATION PROVIDED BMI CHD, Average BMI <18.5
Underweight - Talk to doctor stroke, BMI .gtoreq.25 Lose weight to
reduce risk of CVD, diabetes DM, and cancer Breast Moderate BMI
<18.5 Underweight - Talk to doctor CA, Colon or High BMI
.gtoreq.25 Lose weight to reduce risk of <disease>. CA BMI =
18.5 to 24.9 Maintaining weight may reduce risk of <disease>.
Tobacco CHD, Average Smoker Quit smoking stroke, Moderate Smoker
Quit smoking to reduce risk of <disease>. Colon CA or High
Former Smoker Keep avoiding to reduce risk of <disease>
Physical CHD, Average Does not Exercise (as recommended) .uparw.
physical Activity stroke, activity . . . may improve health DM,
Moderate Does not Exercise .uparw. physical activity may reduce
risk of Breast or High <disease>. CA, Colon Does Exercise
Continue. May reduce risk of <disease>. CA 5-A-day CHD,
Average <5-a-day .uparw. intake . . . may improve health (Diet)
stroke, Moderate <5-a-day .uparw. intake . . . may reduce risk
of <disease>. Breast or High .gtoreq.5-a-day Continue. May
reduce risk of <disease>. CA, Colon CA Alcohol Colon Any
Female & drinks Limit to one a day cancer, Male & drinks
Limit to one or two a day breast cancer Aspirin CHD, Moderate Uses
less than 3x/wk Aspirin may reduce risk of stroke, or High
<disease> . . . Talk to doctor. Colon CA Uses 3 or more times
a week. Asp. may reduce risk of <disease>. Talk to
doctor.
Example 36
Exemplary Lifestyle/Behavior Recommendations Based Upon Familial
Risk Assessment and Personal Health History
[0446] An exemplary disease prevention plan (according to system
3600) based on familial risk assessment and the screening questions
is shown below. Body mass index (BMI) screening questions can
include the following questions: [0447] 1) What is your current
height? ______ feet ______ inches [0448] 2) What is your current
weight (If you are pregnant, what was your weight prior to
pregnancy) ? ______ pounds
[0449] The following risk scenarios can occur based on familial
risk for disease and the response to the above questions:
Risk Scenario 1.
[0450] If BMI is <18.5 and if the subject has any familial risk
for coronary heart disease, stroke, diabetes, colon cancer and
breast cancer, and ovarian cancer, the following recommendation is
provided:
[0451] You are underweight for your height. Talk to your health
professional about your weight, and how it affects your health.
[0452] Based on your height, your ideal weight ranges from ______
to ______ pounds. Being underweight can be a sign of a health
problem, especially if you have had an unplanned weight loss.
Risk Scenario 2.
[0453] If BMI is = or >25 and if the subject has weak familial
risk for coronary heart disease, stroke, diabetes, colon cancer and
breast cancer, and any familial risk for ovarian cancer, then the
following recommendation is provided:
[0454] Losing weight may reduce your risk of getting cardiovascular
disease, diabetes and cancer, and improve your overall health.
[0455] Based on your height, your ideal weight ranges from
<______ to ______ pounds>. Even a weight loss of a few pounds
can make a difference. Talk to your health professional about a
nutrition and physical activity program that is right for you.
Risk Scenario 3.
[0456] If BMI is = or >25 and if the subject has moderate or
high (e.g., strong) familial risk for coronary heart disease,
stroke, diabetes, colon cancer or breast cancer and no personal
history of coronary heart disease, stroke, diabetes, colon cancer
and breast cancer, then the following recommendation is
provided:
[0457] Losing weight may reduce your risk of getting
<diseases> and improve your overall health.
[0458] Based on your height, your ideal weight ranges from
<______ to ______ pounds>. Even a weight loss of a few pounds
can make a difference. Talk to your health professional about a
nutrition and physical activity program that is right for you.
Risk Scenario 4.
[0459] If BMI=18.5 to 24.9 and if the subject has moderate or high
(e.g., strong) familial risk for coronary heart disease, stroke,
diabetes, colon cancer or breast cancer and no personal history of
coronary heart disease, stroke, diabetes, colon cancer and breast
cancer, then the following recommendation is provided: [0460] Your
weight is appropriate for your height. Maintaining a healthy weight
may reduce your risk of <diseases> and improve your overall
health.
[0461] Based on your height, your ideal weight ranges from
<______ to ______ pounds>.
[0462] Tobacco use screening questions can include the following
question:
1) Do you smoke tobacco including cigarettes, a pipe, or cigars?
[0463] ______ Yes, I currently smoke cigarettes, a pipe, or cigars
[0464] ______ No, but I used to smoke [0465] ______ No, I have
never smoked (or I have smoked less than 100 cigarettes in my
lifetime)
[0466] The following risk scenarios can occur based on familial
risk for disease and the response to the above questions:
Risk Scenario 1.
[0467] If a subject smokes and has weak familial risk for coronary
heart disease, stroke, or colon cancer, and any level of familial
risk for diabetes, breast and ovarian cancer, then the following
recommendation is provided:
[0468] Quit smoking. Smoking increases your risk of cardiovascular
disease, lung disease, cancer, and other health problems.
[0469] (For women) If you are pregnant and smoke, quitting now will
help prevent health problems for you and your fetus. Talk to your
health professional about programs to help you quit. Medication and
counseling can help you quit. Make a plan and set a quit date. Tell
your family, friends, and coworkers you are quitting and ask for
their support.
Risk Scenario 2.
[0470] If a subject smokes and has moderate or high (e.g., strong)
familial risk for coronary heart disease, stroke, or colon cancer
and no personal history of coronary heart disease, stroke,
diabetes, or colon cancer, then the following recommendation is
provided:
[0471] Quit smoking to reduce your risk of <disease(s)> and
to improve your overall health.
[0472] (For women) If you are pregnant and smoke, quitting now will
help prevent health problems for you and your fetus. Talk to your
health professional about programs to help you quit. Medication and
counseling can help you quit. Make a plan and set a quit date. Tell
your family, friends, and coworkers you are quitting and ask for
their support.
Risk Scenario 3.
[0473] If a subject is a former smoker and has moderate or high
(e.g., strong) familial risk for coronary heart disease, stroke or
colon cancer and no personal history of coronary heart disease,
stroke, diabetes or colon cancer, then the following recommendation
is provided:
[0474] Congratulations for quitting smoking. Keep it up.
[0475] Continue to avoid smoking to reduce your risk of
<disease(s)> and to improve your overall health. If you think
you might start smoking again, ask your health professional for
help.
[0476] Physical activity screening questions can include the
following questions:
1) On average, how many times per week do you participate in
physical activity such as running, golf, gardening, exercise
classes, bicycling, swimming, walking, mowing the lawn, or dancing?
[0477] ______ Never [0478] ______ Less than once a week [0479]
______ 1 to 2 times a week [0480] ______ 3 to 4 times a week [0481]
______ 5 or more times a week 2) On average, how long do you do
these activities each time? [0482] ______ less than 10 minutes
[0483] ______ 10 to 19 minutes [0484] ______ 20 to 29 minutes
[0485] ______ 30 to 39 minutes [0486] ______ 40 or more minutes
[0487] The following risk scenarios can occur based on familial
risk for disease and the response to the above questions:
Risk Scenario 1.
[0488] If a subject does not participate in physical activity at
least 3 times a week and at least 20 minutes each time, and has
weak familial risk for coronary heart disease, stroke, diabetes,
colon cancer and breast cancer, and any familial risk for ovarian
cancer, then the following recommendation is provided:
[0489] Increase your physical activity. This may improve your
health and reduce your risk of cardiovascular disease, diabetes,
cancer, and other health problems.
[0490] The ideal level of activity is at least 30 minutes of
moderate activity on five or more days a week, or at least 20
minutes of vigorous activity on three or more days a week. If you
need help getting more physical activity, ask your health
professional for ideas or a referral.
Risk Scenario 2.
[0491] If a subject does not participate in physical activity at
least 3 times a week and at least 20 minutes each time, and has
moderate or high (e.g., strong) familial risk for coronary heart
disease, stroke, diabetes, colon cancer or breast cancer and has no
personal history of coronary heart disease, stroke, diabetes, colon
cancer and breast cancer, then the following recommendation is
provided:
[0492] Increase your physical activity. This may reduce your risk
of <disease(s)> and improve your overall health.
[0493] The ideal level of activity is at least 30 minutes of
moderate activity on five or more days a week, or at least 20
minutes of vigorous activity on three or more days a week. If you
need help getting more physical activity, ask your health
professional for ideas or a referral.
Risk Scenario 3.
[0494] If a subject does participate in physical activity at least
3 times a week and for at least 20 minutes each time, and has
moderate or high (e.g., strong) familial risk for coronary heart
disease, stroke, diabetes, colon cancer or breast cancer and no
personal history of coronary heart disease, stroke, diabetes, colon
cancer or breast cancer, then the following recommended is
provided:
[0495] Keep getting regular physical activity. This may reduce your
risk of <disease(s)> and improve your overall health.
[0496] The ideal level of activity is at least 30 minutes of
moderate activity on five or more days a week, or at least 20
minutes of vigorous activity on three or more days a week. If you
need help getting more physical activity, ask your health
professional for ideas or a referral.
[0497] The following definitions of physical activity can also be
provided with any recommendation provided:
[0498] Moderate physical activity--This level of activity generally
refers to the level of effort that a healthy person might expend
while walking briskly, mowing the lawn, dancing, swimming, or
bicycling on a flat surface, for example. A person doing moderate
physical activity will feel some exertion, but they will still be
able to talk comfortably.
[0499] Vigorous physical activity--This level of activity generally
refers to the level of effort that a healthy person might expend
while jogging, mowing the lawn with a non-motorized push mower,
chopping wood, swimming continuous laps, or bicycling uphill, for
example. A person doing vigorous physical activity will feel
physically challenged and their heart rate and breathing will
increase significantly.
[0500] Dietary (e.g., 5-A-Day) screening questions can include the
following questions: 1) On average, how many servings of fruits and
vegetables do you eat each day? One serving is 1 medium piece of
fruit, 1/2 cup fruit or vegetables (raw, cooked, canned, or
frozen), 1 cup of leafy salad greens, 1/4 cup of dried fruit, 3/4
cup or 6 ounces of 100% juice, 1/2 cup cooked peas or beans. [0501]
______ None [0502] ______ 1 to 2 a day [0503] ______ 3 to 4 a day
[0504] ______ 5 to 6 a day [0505] ______ 7 to 8 a day [0506] ______
8 to 9 a day [0507] ______ 10 or more a day
[0508] The following risk scenarios can occur based on familial
risk for disease and the response to the above question:
Risk Scenario 1.
[0509] If a subject eats less than 5 servings of fruits and
vegetables per day and has weak familial risk for coronary heart
disease, stroke, colon cancer and breast cancer, and any level of
familial risk for diabetes and ovarian cancer, the following
recommendation is provided:
[0510] Increase your daily intake of fruits and vegetables. This
may improve your overall health and reduce your risk for
cardiovascular disease and certain cancers.
[0511] Experts recommend eating 5 to 9 servings of fruits and
vegetables a day. Try to eat a variety of different colored fruits
and vegetables daily, especially darker green and yellow/orange
choices. Fresh, frozen, chilled, canned, dried, and 100% fruit and
vegetables juice all count. But limit or avoid fruits or vegetables
that are high in added fat, sugar or salt, If you need help adding
more fruits and vegetables to your diet, ask your health
professional for ideas or a referral.
Risk Scenario 2.
[0512] If a subject eats less than 5 servings of fruits and
vegetables per day and has moderate or high (e.g., strong) familial
risk for coronary heart disease, stroke, colon cancer or breast
cancer and no personal history of coronary heart disease, stroke,
colon cancer and breast cancer, then the following recommendation
is provided:
[0513] Increase your daily intake of fruits and vegetables. This
may reduce your risk of <disease(s)> and improve your overall
health.
[0514] Experts recommend eating 5 to 9 servings of fruits and
vegetables a day. Try to eat a variety of different colored fruits
and vegetables daily, especially darker green and yellow/orange
choices. Fresh, frozen, chilled, canned, dried, and 100% fruit and
vegetables juice all count. But limit or avoid fruits or vegetables
that are high in added fat, sugar or salt, If you need help adding
more fruits and vegetables to your diet, ask your health
professional for ideas or a referral.
Risk Scenario 3.
[0515] If a subject eats more than 5 servings of fruits and
vegetables per day and has moderate or high familial risk for
coronary heart disease, stroke, colon cancer or breast cancer and
has no personal history of coronary heart disease, stroke, colon
cancer and breast cancer, then the following recommendation is
provided:
[0516] Continue to eat 5 to 9 servings of fruits and vegetables a
day. This may reduce your risk of <disease(s)> and improve
your overall health.
[0517] Experts recommend eating 5 to 9 servings of fruits and
vegetables a day. Try to eat a variety of different colored fruits
and vegetables daily, especially darker green and yellow/orange
choices. Fresh, frozen, chilled, canned, dried, and 100% fruit and
vegetables juice all count. But limit or avoid fruits or vegetables
that are high in added fat, sugar or salt, If you need help adding
more fruits and vegetables to your diet, ask your health
professional for ideas or a referral.
[0518] Alcohol screening questions can include the following
question:
1) During the past month, did you drink one or more alcoholic
beverages? A standard drink is one 12-ounce bottle or can of beer
or wine cooler, one 5-ounce glass of wine, or 1.5 ounces (one shot)
of 80-proof distilled spirits. [0519] ______ Yes [0520] ______ No
[0521] ______ Don't know/Not sure
[0522] The following risk scenarios can occur based on familial
risk for disease and the response to the above question:
Risk Scenario 1.
[0523] If a subject drinks alcoholic beverages or don't know/not
sure and is a female who has weak familial risk for colon cancer
and breast cancer, and any level of risk for coronary heart
disease, stroke, diabetes and ovarian cancer, and user drinks
alcoholic beverages, then the following recommendation is
provided:
[0524] Limit your alcohol intake to no more than one drink a
day.
[0525] Don't drink while you are pregnant, or if you are trying to
become pregnant, because alcohol may harm the development of your
fetus. Don't drink any alcohol if you have a history of alcoholism
or are taking medications that may interact with alcohol. Talk to
your health professional if you have questions about alcohol and
how it affects your health, or if you have trouble limiting your
alcohol intake.
Risk Scenario 2.
[0526] If a subject drinks alcoholic beverages and is a female who
has moderate or high (e.g., strong) familial risk for colon cancer
or breast cancer and no personal history of colon cancer and breast
cancer, and user drinks alcoholic beverages, then the following
recommendation is provided:
[0527] Limit your alcohol intake to no more than one drink a day.
This may reduce your risk of getting <breast cancer and/or colon
cancer>.
[0528] Don't drink while you are pregnant, or if you are trying to
become pregnant, because alcohol may harm the development of your
fetus. Don't drink any alcohol if you have a history of alcoholism
or are taking medications that may interact with alcohol. Talk to
your health professional if you have questions about alcohol and
how it affects your health, or if you have trouble limiting your
alcohol intake.
Risk Scenario 3.
[0529] If a subject drinks alcoholic beverages, and is a male who
has moderate familial risk for colon cancer, or any level of risk
for coronary heart disease, stroke, diabetes, breast cancer or
ovarian cancer, and user drinks alcoholic beverages, then the
following recommendation is provided:
[0530] Limit your alcohol intake to no more than one or two drinks
a day.
[0531] Don't drink any alcohol if you have a history of alcoholism
or are taking medications that may interact with alcohol. Talk to
your health professional if you have questions about alcohol and
how it affects your health, or if you have trouble limiting your
alcohol intake.
Risk Scenario 4.
[0532] If a subject drinks alcoholic beverages, and is a male who
has moderate or high (e.g., strong) familial risk for colon cancer
and no personal history of colon cancer and breast cancer, then the
following recommendation is provided:
[0533] Limit your alcohol intake to no more than one or two drinks
a day. This may reduce your risk of getting colon cancer.
[0534] Don't drink any alcohol if you have a history of alcoholism
or are taking medications that may interact with alcohol. Talk to
your health professional if you have questions about alcohol and
how it affects your health, or if you have trouble limiting your
alcohol intake.
[0535] Aspirin screening questions can include the following
question:
[0536] 1) On average, how many days per week do you currently take
aspirin?.
Do not include other pain relief medication. [0537] ______ None
[0538] ______ 1 day [0539] ______ 2 days [0540] ______ 3 days
[0541] ______ 4 days [0542] ______ 5 days [0543] ______ 6 days
[0544] ______ 7 days
[0545] The following risk scenarios can occur based on familial
risk for disease and the response to the above question:
Risk Scenario 1.
[0546] If a subject does not use aspirin 3 or more days a week, and
has moderate or high (e.g., strong) familial risk for coronary
heart disease, stroke or colon cancer, and has no personal history
of coronary heart disease, stroke, diabetes and colon cancer, then
the following recommendation is provided:
[0547] Talk to your health professional about the benefits and risk
of aspirin.
[0548] Aspirin use may reduce your risk of <disease(s)>.
However, aspirin use may have risks such as bruising more easily
and bleeding from the gastrointestinal tract. If you are allergic
to aspirin, you should not take it. Talk to your health
professional about the possible benefits and risks of aspirin
therapy. If you are taking other medications, ask your health
professional if there are any harmful interactions with
aspirin.
Risk Scenario 2.
[0549] If a subject uses aspirin at least 3 days a week, and has
moderate or high (e.g., strong) familial risk for coronary heart
disease, stroke or colon cancer and no personal history of coronary
heart disease, then the following recommendation is provided:
[0550] If you have not already, talk to your health professional
about the benefits and risk of aspirin therapy.
[0551] Aspirin therapy may reduce your risk of <disease(s)>.
However, aspirin use may have risks such as bruising more easily
and bleeding from the gastrointestinal tract. If you are allergic
to aspirin, you should not take it. Talk to your health
professional about the possible benefits and risks of aspirin
therapy. If you are taking other medications, ask your health
professional if there are any harmful interactions with
aspirin.
Example 37
Exemplary Implementation of a Computer-Implemented Method for Both
Determining the Familial Risk of One or More Disease of Interest
and Determining a Disease Prevention Plan for a Subject
[0552] FIGS. 38-58 are screen shots from an exemplary
implementation of a computer-implemented method (e.g., an Internet
based interactive method) for both determining the familial risk of
one or more diseases of interest in a subject and determining a
disease prevention plan for a subject. Such a technique can be used
to collect and present information for use in any of the examples,
herein. In practice, any one or more of the screen shots can be
omitted, resulting in an abbreviated version of the exemplary
implementation.
[0553] FIG. 37 is a screen shot 3700 of an opening page of the
computer-implemented method. New users (e.g., subjects) can begin a
new profile (e.g. health record), returning users can login to
their password protected user profile. Additional background and
informational materials are accessible via the opening page.
[0554] FIG. 38 is a screen shot 3800 of a page of the
computer-implemented method for setting a user name and password in
the creation of a new health record for a subject.
[0555] FIG. 39 is a screen shot 3900 of a personal information page
of the computer-implemented method for inputting (e.g., collecting)
personal information about the subject. For example, name, date of
birth, gender, adoption status, ethnicity, and the like can be
collected.
[0556] FIG. 40 is a screen shot 4000 of a personal health history
page of the computer-implemented method for inputting (e.g.,
collecting) personal health history information about the subject.
For example, height, weight and disease status of common chronic
diseases (e.g., coronary heart disease, stroke, diabetes, colon
cancer, breast cancer, and ovarian cancer) can be collected.
[0557] FIG. 41 is a screen shot 4100 of a personal health behaviors
page of the computer-implemented method for inputting (e.g.,
collecting) personal health behavior information about the subject.
For example, smoking status, physical activity regularity, dietary
information, and the like can be collected.
[0558] FIG. 42 is a screen shot 4200 of a screening test page of
the computer-implemented method for inputting (e.g., collecting)
personal health history information about the subject. For example,
information about screening exams include information about
clinical breast exams, mammograms, fecal occult blood tests,
sigmoidoscopies, colonoscopies, blood cholesterol tests, blood
pressure tests, and blood sugar tests.
[0559] FIG. 43. is a screen shot 4300 of a page of the
computer-implemented method for changing the user name and password
for accessing a health record for a subject.
[0560] FIG. 44 is a screen shot 4400 of a family tree creation test
page of the computer-implement method for inputting (e.g.,
collecting) family health history information for the subject's
relatives. For example, the number of first and second degree
relatives can be collected.
[0561] FIG. 45 is a screen shot 4500 of a family member page of the
computer-implemented method for inputting (e.g., collecting) family
health history information for a selected family member. For
example, information about whether or not the selected family
member ever had one or more disease of interest (e.g., coronary
heart disease, stroke, diabetes, colon cancer, breast cancer,
and/or ovarian cancer) is collected.
[0562] FIG. 46 is a screen shot 4600 showing an exemplary example
of information input in the family history page of FIG. 45. For
example, the options related to whether or not the selected family
member (e.g., My Mother, "Paula") ever had coronary heart disease
is shown as part of a drop-down selection tool with the option,
"Yes," and Age at first diagnosis at "20 to 24" selected.
[0563] FIG. 47 is a screen shot 4700 showing an exemplary example
of a completed information input page for the selected family
member of FIG. 46. In, practice, "Yes," "No," or "Don't Know" can
be selected for any of the diseases, with an age at first diagnosis
if "Yes" is selected.
[0564] FIG. 48 is a screen shot 4800 showing an exemplary example
of the computer-implemented method for inputting (e.g., collecting)
family health history information for another family member by
adding the family member to the family health history records.
[0565] FIG. 49 is as screen shot 4900 showing an exemplary example
of information input in the family health history profile of FIG.
48. For example, information about the new family member "Ed" or
"my Father's Brother," (i.e. the subject's uncle) can be input.
[0566] FIG. 50 is a screen shot 5000 showing an exemplary example
of a confirmation pop-up warning confirming the desire to delete a
relative's family health history profile from the health
records.
[0567] FIG. 51 is a screen shot 5100 showing an exemplary example
of a glossary pop-up information guide accessible via a link of the
selected disease of interest on the input page. For example, stroke
was selected to access more information about stroke to help a user
learn about the disease prior to inputting information about
whether a relative had the selected disease or not.
[0568] FIG. 52 is a screen shot 5200 showing an exemplary example
of a welcome back page that allows the subject or user the
opportunity to review, edit, update or delete information in the
health records. For example, such a page can be useful for allowing
the continuous updating and use of the technology.
[0569] FIG. 53 is a screen shot 5300 showing an exemplary example
of a report home page after the familial risk assessor has
completed its assessment of risk and developed a personalized
disease prevention plan.
[0570] FIG. 54 is a screen shot 5400 showing an exemplary pedigree
display (e.g., a family tree picture) page showing family disease
history for a subject based on familial health records. In the
example, an indication (e.g., legend) can be included to indicate
that circles represent females and squares represent males.
[0571] FIG. 55 is a screen shot 5500 showing an exemplary familial
risk assessment page for disease based on family health history. In
the example, a risk assessment category (e.g., strong, medium, or
weak) is displayed as a metric for the diseases.
[0572] FIG. 56 is a screen shot 5600 showing the familial risk
assessment page (e.g., similar to that of FIG. 55) with a pop-up
familial risk clarifier further clarifying and indicating the risk
assessment categories assigned.
[0573] FIG. 57 is a screen shot 5700 showing a disease prevention
plan page specific to a disease of interest (e.g., coronary heart
disease) based on familial health risk assessment and personal
health history. In the example, recommendations are included. For
example, screening tests and health behavior modifications can be
recommended based on familial health risk assessment and personal
health history.
[0574] FIG. 58 is a screen shot 5800 showing a popup window that
expounds upon a phrase (e.g., "continue cholesterol testing") when
a hyperlink in the plan for the phrase is activated (e.g., clicked
on).
Example 38
Another Exemplary Implementation of a Computer-Implemented Method
for Both Determining the Familial Risk of One or More Disease of
Interest and Determining a Disease Prevention Plan for a
Subject
[0575] An exemplary personalized disease prevention plan from an
another exemplary implementation of a computer-implemented method
(e.g., an Internet based interactive method) for both determining
the familial risk of one or more diseases of interest in a subject
and determining a disease prevention plan for a subject are shown
below for a test case anonymously named "Two, Case.". Such a
technique can be used to collect and present information for use in
any of the examples, herein.
[0576] The plan can be displayed as pages in a web browser or
printed out for later use. The underlined phrases shown therein can
serve as hyperlinks to other places in the plan (e.g., to a
location in the plan that expounds upon the underlined phrase). The
underlined phrases shown therein can alternatively serve as
hyperlinks to external web pages.
Name: Two, Case DOB: Jul. 6, 1935 Prepared on: Jan. 13, 2006
[0577] Thank you for using Family Healthware. Remember these
important points: [0578] Know your family history. It's one of the
most important risk factors for the six diseases in this tool.
[0579] Understand that many factors influence your risk. A weak
family history does not mean you won't get disease. And, a strong
family history does not mean you will get disease. Other factors
including your lifestyle, overall health and environment can
influence your risk. [0580] Talk to your health professional about
your report. He or she is the best person to review the findings
and discuss how to improve your health and reduce your risk for
disease. [0581] Discuss family history with your family. Your
family history is shared by your family members. What you learned
may help them. [0582] Keep family history accurate and up to date.
Try to confirm your family history, as the accuracy affects your
risk rating. Update your family history every 1 to 2 years, and if
you learn about changes. <new page>
Name: Two, Case DOB: Jul. 6, 1935 Prepared on: Jan. 13, 2006
[0583] The impact of your family history on Coronary Heart Disease
risk is: STRONG
[0584] Why your family history is a risk factor: [0585] Three or
more closely related family members with coronary heart disease.
The following can help reduce your overall risk:
Screening Tests
[0585] [0586] Continue testing your blood sugar. [0587] Continue to
check your blood pressure. [0588] Continue cholesterol testing.
Lifestyle Changes
[0588] [0589] Maintain a healthy weight. [0590] Increase your
physical activity. [0591] Increase your daily intake of fruits and
vegetables. [0592] Talk to your health professional about the
benefits and risks of aspirin therapy.
Additional Risk Assessment
[0592] [0593] Your health professional may suggest additional steps
to assess your risk, which might [0594] include specialized tests,
a genetic evaluation, or genetic testing. <new page>
Name: Two, Case DOB: Jul. 6, 1935 Prepared on: Jan. 13, 2006
[0595] The impact of your family history on Stroke risk is:
WEAK
[0596] Although your family history risk is weak, there are other
factors that can affect your risk of disease.
The following can help reduce your overall risk:
Screening Tests
[0597] Continue to check your blood pressure. [0598] Continue
cholesterol testing.
Lifestyle Changes
[0598] [0599] Increase your physical activity. [0600] Increase your
daily intake of fruits and vegetables. <new page>
Name: Two, Case DOB: Jul. 6, 1935 Prepared on: Jan. 13, 2006
[0601] The impact of your family history on Diabetes risk is:
WEAK
[0602] Although your family history risk is weak, there are other
factors that can affect your risk of disease.
[0603] The following can help reduce your overall risk:
Screening Tests
[0604] Based on your responses, you are following the
recommendations for available screening tests for this disease.
However, talk with your health professional about screening tests
that may be appropriate in the future, and when and how often you
should be screened.
Lifestyle Changes
[0604] [0605] Increase your physical activity. <new page>
Name: Two, Case DOB: Jul. 6, 1935 Prepared on: Jan. 13, 2006
[0606] The impact of your family history on Colon Cancer risk is:
MODERATE
[0607] Why your family history is a risk factor: [0608] A family
member with colon cancer. The following can help reduce your
overall risk:
Screening Tests
[0608] [0609] Schedule a colon cancer screening test today.
Lifestyle Changes
[0609] [0610] Maintain a healthy weight. [0611] Increase your
physical activity. [0612] Increase your daily intake of fruits and
vegetables. [0613] Experts recommend no more than 1 drink per day
for women. [0614] Talk to your health professional about the
benefits and risks of aspirin therapy. <new page>
Name: Two, Case DOB: Jul. 6, 1935 Prepared on: Jan. 13, 2006
[0615] The impact of your family history on Breast Cancer risk is:
MODERATE
[0616] Why your family history is a risk factor: [0617] A family
member with breast cancer at a later age. The following can help
reduce your overall risk:
Screening Tests
[0617] [0618] Continue breast cancer screening.
Lifestyle Changes
[0618] [0619] Maintain a healthy weight. [0620] Increase your
physical activity. [0621] Increase your daily intake of fruits and
vegetables. [0622] Experts recommend no more than 1 drink per day
for women.
Additional Risk Assessment
[0622] [0623] While your family history is a moderate risk factor
for breast cancer, other factors can influence your risk. These
include the age when you began menstruation, number of full-term
pregnancies before age 30, or use of hormone replacement therapy.
Talk to your health professional about these factors and how they
might influence your risk. <new page>
Name: Two, Case DOB: Jul. 6, 1935 Prepared on: Jan. 13, 2006
[0624] The impact of your family history on Ovarian Cancer risk is:
WEAK
[0625] Although your family history risk is weak, there are other
factors that can affect your risk of disease.
The following can help reduce your overall risk:
Screening Tests
[0626] No recommendations
Lifestyle Changes
[0626] [0627] No recommendations <new page>
Name: Two, Case DOB: Jul. 6, 1935 Prepared on: Jan. 13, 2006
[0628] Screening tests that are important because of your family
health history:
[0629] Cholesterol Testing
[0630] Continue cholesterol testing. Talk to your health
professional about your family history, how it affects your risk of
Coronary Heart Disease, and your options for screening and
prevention. Your cholesterol testing should include a measure of
your total cholesterol, low density lipoprotein (the "bad"
cholesterol), high density lipoprotein (the "good" cholesterol),
and triglyceride. If your cholesterol levels are high or abnormal,
changing your lifestyle and/or taking medication can reduce your
risk of coronary heart disease and stroke. Due to your increased
risk, you may need to test for other cardiovascular. Ask your
health professional how often you should test your cholesterol.
This will depend on your cholesterol levels, other risk factors,
and if you already are being treated for cholesterol problems.
[0631] Blood Glucose Testing
[0632] Continue testing your blood sugar. You may benefit from
testing because of your family history. Talk to your health
professional about your blood sugar and how it affects your risk of
Coronary Heart Disease. Elevated blood sugar is a sign of diabetes,
and it can increase your risk of coronary heart disease and stroke.
If you have elevated blood sugar, you can lower it by changing your
lifestyle and/or taking medication. In addition, your health
professional may closely monitor and manage other cardiovascular
like blood pressure and cholesterol. These steps may reduce your
risk of coronary heart disease and stroke. Ask your health
professional about scheduling a blood sugar test.
[0633] Blood Pressure Testing
[0634] Continue to check your blood pressure. Talk to your health
professional about your family history, how it affects your risk of
Coronary Heart Disease, and your options for screening and
prevention. If your blood pressure is high, changing your lifestyle
and/or taking medication can lower your blood pressure and reduce
your risk of coronary heart disease and stroke. Ask your health
professional how often you should check your blood pressure. This
will depend on your blood pressure levels, other health problems,
and if you already are being treated for high blood pressure.
[0635] Breast Cancer Testing
[0636] Continue breast cancer screening. Talk to your health
professional about your family history, how it affects your breast
cancer risk, and your options for screening and prevention.
Mammograms and clinical breast exams are screening tests that can
help detect breast cancer early, when it is most treatable. Due to
your family history, other screening tests or prevention options
may be helpful. Talk to your health professional about your risk of
breast cancer, the best tests for you, and how often you should be
screened.
[0637] Colon Cancer Testing
[0638] Schedule a colon cancer colon cancer today. Talk to your
health professional about your family history, how it affects your
colon cancer risk, and your options for screening and prevention.
Colon cancer screening can help find colon cancer early, when it is
most treatable. It also can detect polyp (small growths), which can
be removed to prevent colon cancer. Colon cancer screening tests
include: a home stool test kit, sigmoidoscopy, double-contrast
barium enema, and/or colonoscopy. Usually, a home stool test is
done every year, sigmoidoscopy at least every 5 years,
double-contrast barium enema at least every 5 years, and
colonoscopy at least every 10 years. These tests can be done alone
or in combination and are usually recommended for people aged 50
and older. Talk to your health professional about your risk of
colon cancer, the tests that are best for you, and how often you
should be screened.
<new page>
Name: Two, Case DOB: Jul. 6, 1935 Prepared on: Jan. 13, 2006
[0639] Lifestyle changes that are important because of your family
health history:
[0640] Physical Activity
[0641] Increase your physical activity. This may reduce your risk
of Coronary Heart Disease, Colon Cancer and Breast Cancer and
improve your overall health. The ideal level of activity is at
least 30 minutes of moderate activity on five or more days a week,
or at least 20 minutes of vigorous activity on three or more days a
week. If you need help getting more physical activity, ask your
health professional for ideas or a referral.
[0642] Weight
[0643] Your weight is appropriate for your height. Maintaining a
healthy weight may reduce your risk of Coronary Heart Disease,
Colon Cancer and Breast Cancer and improve your overall health.
Based on your height, your ideal weight ranges from 107 to 145
pounds.
[0644] Fruits and Vegetables
[0645] Increase your daily intake of fruits and vegetables. This
may reduce your risk of Coronary Heart Disease, Colon Cancer and
Breast Cancer and improve your overall health. Experts recommend
eating 5 to 9 servings of fruits and vegetables a day. Try to eat a
variety of different colored fruits and vegetables daily,
especially darker green and yellow/orange choices. Fresh, frozen,
chilled, canned, dried, and 100% fruit and vegetables juice all
count. But limit or avoid fruits or vegetables that are high in
added fat, sugar or salt. If you need help adding more fruits and
vegetables to your diet, ask your health professional for ideas or
a referral.
[0646] Aspirin
[0647] Taking aspirin on a regular basis may reduce your risk of
Coronary Heart Disease and Colon Cancer. Talk to your health
professional about whether aspirin therapy is right for you.
Aspirin use may reduce your risk of certain diseases, including
coronary heart disease, stroke, and colon cancer. However, aspirin
use may have risks such as bruising more easily and bleeding from
the gastrointestinal tract. If you are allergic to aspirin, you
should not take it. Talk to your health professional about the
possible benefits and risks of aspirin therapy. If you are taking
other medications, ask if there are any harmful interactions with
aspirin.
[0648] Alcohol
[0649] Limit your alcohol intake to no more than one drink a day.
This may reduce your risk of getting Colon Cancer and Breast
Cancer. Don't drink any alcohol if you have a history of alcoholism
or are taking medications that may interact with alcohol. Don't
drink while you are pregnant, or if you are trying to become
pregnant, because alcohol may harm the development of your fetus.
Talk to your health professional if you have questions about
alcohol and how it affects your health, or if you have trouble
limiting your alcohol intake.
Example 39
Exemplary Disease Prevention Plan
[0650] In any of the examples herein, an electronic or paper-based
report based on familial disease risk, and/or personal health
information, and/or personal behavior information and/or the like
can be a disease prevention plan. Such reports can include familial
disease risk, familial risk clarifiers, and recommendations for
screening tests, behavioral changes, and the like. Further, such
reports can include pedigree analysis (e.g., family tree pictures
and the like). Although particular disease prevention plans are
shown in some examples, other disease prevention plans and formats
can be used.
Example 40
Exemplary Advantages and Applications of Technologies
[0651] While family history is a risk factor for most chronic
diseases of public health significance, it is underutilized in the
practice of preventive medicine and public health for assessing
disease risk and influencing early detection and prevention
strategies. Geneticists have long recognized the value of family
history for discovering inherited disorders, usually the result of
single gene mutations. Although single gene disorders are typically
associated with a large magnitude of risk, they account for only a
small proportion of individuals with a genetic risk for common,
chronic diseases. Most of the genetic susceptibility to these
disorders is the result of multiple genes interacting with multiple
environmental factors. Family history therefore, is more than
genetics; it reflects the consequences of inherited genetic
susceptibilities, shared environment, shared cultures and common
behaviors. All of these factors are important when estimating
disease risk.
[0652] It is well known that people who have close relatives with
certain diseases such as heart disease, diabetes, and cancers, are
more likely to develop those diseases themselves. Studies suggest
that having a first-degree relative with a chronic disease can at
least double a person's risk of developing the same or a related
disease. This risk generally increases with an increasing number of
affected relatives, especially if their disease was diagnosed at an
early age. Physicians usually collect information about a patient's
family history, but often do not discuss, revisit or update it over
time. Thus, they may miss opportunities to offer specific
prevention recommendations for diseases that run in the family.
Family medical history represents a "genomic tool" that can capture
the interactions of genetic susceptibility, shared environment, and
common behaviors in relation to disease risk. Determining risk of
diseases for individuals based on family medical history can lead
to lifestyle changes and preventive treatment, potentially saving
lives and the need for intensive and expensive care treatments.
[0653] Healthcare information and resources are widely available to
medical providers and patients via electronic and printed
resources. Unfortunately, many informational sources provide only
broad, generalized information. Preventive medicine should provide
patients with feedback regarding individualized risk analysis and
disease prevention information that is applicable to their own
personalized health history, while also being simple and easy to
use and interpret. Currently there is no standardized way to
collect or interpret family health history data. Existing tools are
usually paper-based, time-consuming for the patient, and difficult
to interpret for the health care professional. Knowledge of
increased risk for chronic diseases due to family history can
influence the clinical management and prevention of a disease.
Prevention strategies can include targeting lifestyle changes such
as diet, exercise, and smoking cessation; screening at earlier
ages, more frequently, and with more intensive methods than might
be used for average risk individuals; use of chemoprevention such
as aspirin; and referral to a specialist for assessment of genetic
risk factors. Systems and methods for collecting information about
a patient's family health history, determining risk analysis of
disease based on personal and family health history, and providing
a personalized disease prevention plan can influence the clinical
management and prevention of disease.
Example 41
More Exemplary Advantages and Applications of Technologies
[0654] Familial risk assessment and disease plan prevention
technologies can play a major role in preventive medicine by
allowing primary care providers the ability to review their
patients' family histories and make recommendations for early
detection or intervention strategies and counseling on lifestyles.
Similarly, patients have the ability to maintain and update their
family history records at home and can discuss the implications
with their providers during visits. The technology can be used on a
standalone computer system or via networked computers via local
networks and/or the Internet. Similarly, the technology can be
integrated within electronic medical records or information systems
allowing for increased data access and interchange. Such
applications and technology also lend themselves to personalized
medicine, home-based health management, as well as increasing the
opportunities for evidence-based medicine to be integrated into
medical practice on a daily basis.
Example 42
Exemplary Computer System for Conducting Analysis
[0655] FIG. 59 and the following discussion provide a brief,
general description of a suitable computing environment for the
software (for example, computer programs) described above. The
methods described above can be implemented in computer-executable
instructions (for example, organized in program modules). The
program modules can include the routines, programs, objects,
components, and data structures that perform the tasks and
implement the data types for implementing the techniques described
above.
[0656] While FIG. 59 shows a typical configuration of a desktop
computer, the technologies may be implemented in other computer
system configurations, including multiprocessor systems,
microprocessor-based or programmable consumer electronics,
minicomputers, mainframe computers, and the like. The technologies
may also be used in distributed computing environments where tasks
are performed in parallel by processing devices to enhance
performance. For example, tasks can be performed simultaneously on
multiple computers, multiple processors in a single computer, or
both. In a distributed computing environment, program modules may
be located in both local and remote memory storage devices. For
example, code can be stored on a local machine/server for access
through the Internet, whereby data from assays can be uploaded and
processed by the local machine/server and the results provided for
printing and/or downloading.
[0657] The computer system shown in FIG. 59 is suitable for
implementing the technologies described herein and includes a
computer 5920, with a processing unit 5921, a system memory 5922,
and a system bus 5923 that interconnects various system components,
including the system memory to the processing unit 5921. The system
bus may comprise any of several types of bus structures including a
memory bus or memory controller, a peripheral bus, and a local bus
using a bus architecture. The system memory includes read only
memory (ROM) 5924 and random access memory (RAM) 5925. A
nonvolatile system (for example, BIOS) can be stored in ROM 5924
and contains the basic routines for transferring information
between elements within the personal computer 5920, such as during
start-up. The personal computer 5920 can further include a hard
disk drive 5927, a magnetic disk drive 5928, for example, to read
from or write to a removable disk 5929, and an optical disk drive
5930, for example, for reading a CD-ROM disk 5931 or to read from
or write to other optical media. The hard disk drive 5927, magnetic
disk drive 5928, and optical disk 5930 are connected to the system
bus 5923 by a hard disk drive interface 5932, a magnetic disk drive
interface 5933, and an optical drive interface 5934, respectively.
The drives and their associated computer-readable media provide
nonvolatile storage of data, data structures, computer-executable
instructions (including program code such as dynamic link libraries
and executable files), and the like for the personal computer 5920.
Although the description of computer-readable media above refers to
a hard disk, a removable magnetic disk, and a CD, it can also
include other types of media that are readable by a computer, such
as magnetic cassettes, flash memory cards, DVDs, and the like.
[0658] A number of program modules may be stored in the drives and
RAM 5925, including an operating system 5935, one or more
application programs 5936, other program modules 5937, and program
data 5938. A user may enter commands and information into the
personal computer 5920 through a keyboard 5940 and pointing device,
such as a mouse 5942. Other input devices (not shown) may include a
microphone, joystick, game pad, satellite dish, scanner, or the
like. These and other input devices are often connected to the
processing unit 5921 through a serial port interface 5946 that is
coupled to the system bus, but may be connected by other
interfaces, such as a parallel port, game port, or a universal
serial bus (USB). A monitor 5947 or other type of display device is
also connected to the system bus 5923 via an interface, such as a
display controller or video adapter 5948. In addition to the
monitor, personal computers typically include other peripheral
output devices (not shown), such as speakers and printers.
[0659] The above computer system is provided merely as an example.
The technologies can be implemented in a wide variety of other
configurations. Further, a wide variety of approaches for
collecting and analyzing family history data and personal health
data are possible. For example, the data can be collected and
analyzed, and the results presented on different computer systems
as appropriate. In addition, various software aspects can be
implemented in hardware, and vice versa. Further, paper-based
approaches to the technologies are possible, including, for
example, purely paper-based approaches that utilize instructions
for interpretation of algorithms, as well as partially paper-based
approaches that utilize scanning technologies and data analysis
software.
Example 43
Exemplary Computer-Implemented Methods
[0660] Any of the computer-implemented methods described herein can
be performed by software executed by software in an automated
system (for example, a computer system). Fully-automatic (for
example, without human intervention) or semi-automatic operation
(for example, computer processing assisted by human intervention)
can be supported. User intervention may be desired in some cases,
such as to adjust parameters or consider results.
[0661] Such software can be stored on one or more computer-readable
media comprising computer-executable instructions for performing
the described actions.
[0662] For the sake of presentation, terms such as "determine,"
"generate," and "provide" are used to describe computer operations
in a computing environment. These terms can be high-level
abstractions for operations performed by a computer, and need not
be acts performed by a human being. The actual computer operations
corresponding to these terms can vary depending on
implementation.
ALTERNATIVES
[0663] Having illustrated and described the principles of the
invention in exemplary embodiments, it should be apparent to those
skilled in the art that the described examples are illustrative
embodiments and can be modified in arrangement and detail without
departing from such principles. Techniques from any of the examples
can be incorporated into one or more of any of the other examples
(e.g., including the examples described in the claims).
[0664] In view of the many possible embodiments to which the
principles of the invention may be applied, it should be understood
that the illustrative embodiments are intended to teach these
principles and are not intended to be a limitation on the scope of
the invention. We therefore claim as our invention all that comes
within the scope and spirit of the following claims and their
equivalents.
* * * * *