U.S. patent application number 15/242369 was filed with the patent office on 2017-03-16 for method for increasing utilization of genetic testing.
This patent application is currently assigned to National BioMedical Research Foundation. The applicant listed for this patent is National BioMedical Research Foundation. Invention is credited to Fred D. Ledley.
Application Number | 20170076037 15/242369 |
Document ID | / |
Family ID | 48701481 |
Filed Date | 2017-03-16 |
United States Patent
Application |
20170076037 |
Kind Code |
A1 |
Ledley; Fred D. |
March 16, 2017 |
METHOD FOR INCREASING UTILIZATION OF GENETIC TESTING
Abstract
This invention describes a method and site for providing genetic
testing using the Internet which enables individuals to access
genetic testing as well as methods that ensure privacy in the
selection of genetic tests, payment, performance of tests, delivery
of results, interpretation of results, and genetic counseling.
These methods will increase the utilization of genetic testing by
individuals.
Inventors: |
Ledley; Fred D.; (Needham,
MA) |
|
Applicant: |
Name |
City |
State |
Country |
Type |
National BioMedical Research Foundation |
Bethesda |
MD |
US |
|
|
Assignee: |
National BioMedical Research
Foundation
Bethesda
MD
|
Family ID: |
48701481 |
Appl. No.: |
15/242369 |
Filed: |
August 19, 2016 |
Related U.S. Patent Documents
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Application
Number |
Filing Date |
Patent Number |
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13936785 |
Jul 8, 2013 |
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15242369 |
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09630631 |
Aug 1, 2000 |
8483966 |
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13936785 |
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60146742 |
Aug 2, 1999 |
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Current U.S.
Class: |
1/1 |
Current CPC
Class: |
G16B 50/00 20190201;
G16B 45/00 20190201; G16B 30/00 20190201; C12Q 1/6876 20130101;
G06Q 30/0641 20130101; G06Q 50/02 20130101 |
International
Class: |
G06F 19/22 20060101
G06F019/22; G06F 19/26 20060101 G06F019/26 |
Claims
1.-11. (canceled)
12. A method of providing genetic testing services to an individual
which is directly accessible by said individual through a computer
interface, said method comprising (i) posting a list of genetic
tests which can be run on a biological sample from said individual;
(ii) providing first information concerning each of said genetic
tests on said list; (iii) providing a mechanism for said individual
to directly select at least one of said genetic tests by private
communication through the computer interface without intermediation
of a healthcare provider, wherein the genetic test selected by said
individual is performed on a biological sample and a result of said
selected genetic test is obtained; (iv) displaying the result of
said selected genetic test in readable form; (v) providing second
information to assist in interpreting said result of said selected
genetic test; and (vi) providing third information to provide
genetic counseling relating to the result of said selected genetic
test; wherein said individual has direct access to each of said
first information, second information, and third information
without the intermediation of a health care professional; wherein
said computer interface capable of executing a communication
program, and providing information necessary for providing the
genetic testing services, without intermediation of a healthcare
provider; and wherein said individual is a non-healthcare
professional.
13. The method of claim 12 wherein said method of providing genetic
testing services is through an internet address.
14. The method of claim 12 wherein said mechanism for selecting
further comprising a mechanism for payment for said genetic
test.
15. The method of claim 13 further comprising a step of posting on
said internet address a result of said genetic test.
16. The method of claim 15 wherein said result is accessible by
said individual.
17. The method of claim 13 wherein said internet address is
protected by a password.
18. The method of claim 14 wherein said mechanism for selecting
further comprising a mechanism for said individual to provide
informed consent for said genetic test.
19. The method of claim 12 wherein said list of genetic tests
comprises one or more types of genetic tests selected from the
group consisting of genetic tests for diagnosing a genetic disease,
genetic tests determinative of multifactorial disease propensity,
and genetic tests predictive of a therapeutic drug response.
20. The method of claim 13 wherein said mechanism for selecting is
accessible and performable by said individual.
21. The method of claim 20 wherein said mechanism for selecting
further comprising a mechanism for payment for said genetic
test.
22. The method of claim 21 further comprising a step of posting on
said internet address a result of said genetic test selected.
23. The method of claim 22 wherein said result is accessible by
said individual.
24. The method of claim 23 wherein said internet address is
protected by a password.
25. The method of claim 20 wherein said mechanism for selecting
further comprising a mechanism for said individual to provide
informed consent for said genetic test.
26. The method of claim 13 wherein said list of genetic tests
comprises one or more types of genetic tests selected from the
group consisting of genetic tests for diagnosing a genetic disease,
genetic tests determinative of multifactorial disease propensity,
and genetic tests predicative of a therapeutic drug response.
27. A method of providing genetic testing services to an individual
through a password protected computer interface that is directly
accessible by said individual, in an integrated manner, the method
comprising: (i) posting a list of genetic tests which can be run on
a biological sample from said individual; (ii) providing first
information concerning each of said genetic tests on said list;
(iii) providing a mechanism for said individual to directly select
at least one of said genetic tests by private communication without
intermediation of a healthcare provider, wherein the genetic test
selected by said individual is performed on a biological sample and
a result of said selected genetic test is obtained, said mechanism
accessible and performable by said individual, and said mechanism
including a means for payment for said genetic tests and a
mechanism for said individual to provide informed consent for said
genetic test; (iv) displaying the result of said selected genetic
test in readable form, said result being accessible by said
individual; (v) providing second information to assist in
interpreting the result of said selected genetic test; and (vi)
providing third information to provide genetic counseling relating
to the result of said selected genetic test; wherein said
individual has direct access to each of said first information,
second information, and third information and said result of said
selected genetic test without the intermediation of a health care
professional; and wherein said individual is a non-healthcare
professional.
28. The method of claim 27 wherein said list of genetic tests
comprises one or more types of genetic tests selected from the
group consisting of genetic tests for diagnosing a genetic disease,
genetic tests determinative of multifactorial disease propensity,
and genetic tests predictive of a therapeutic drug response.
29. The method of claim 12 wherein said providing genetic testing
services is accessible through a URL (Universal Record
Locator).
30. The method of claim 12 wherein said providing genetic testing
services comprises private communication over the internet.
31. The method of claim 30 wherein said private communication over
the internet comprises email.
32. The method of claim 12 wherein said method is provided on an
internet address and said result is also provided by email.
33. A method of providing genetic testing services to an individual
comprising (a) providing to said individual through private
communication from a server to the individual (i) a list of genetic
tests which can be run on a biological sample from said individual;
(ii) first information concerning each of said genetic tests on
said list; (iii) a mechanism for said individual to directly select
at least one of said genetic tests; (b) wherein upon selection of
the genetic test by said individual, the server orders from a
genetic testing service the performing of said selected genetic
test on said sample (c) providing to said individual through
private communication from a server (i) the result of said selected
genetic test in readable form; (ii) second information to assist in
interpreting said result of said selected genetic test; and (iii)
third information to provide genetic counseling relating to the
result of said selected genetic test; wherein said individual
directly accesses each of said first information, second
information, and third information without the intermediation of a
health care professional; and wherein said individual is a
non-healthcare professional.
34. The method of claim 33, comprising (a) procuring from said
individual a biological sample for genetic testing (b) providing to
said individual through private communication from a server to the
individual (i) a list of genetic tests which can be run on said
biological sample from said individual; (ii) first information
concerning each of said genetic tests on said list; (iii) a
mechanism for said individual to directly select at least one of
said genetic tests; (c) wherein upon selection of the genetic test
by said individual, the server orders from a genetic testing
service the performing of said selected genetic test on said sample
(d) providing to said individual through private communication from
the server (i) the result of said selected genetic test in readable
form; (ii) second information to assist in interpreting said result
of said selected genetic test; and (iii) third information to
provide genetic counseling relating to the result of said selected
genetic test; wherein said individual directly accesses each of
said first information, second information, and third information
without the intermediation of a health care professional; and
wherein said individual is a non-healthcare professional.
35. A method of providing genetic testing services to an individual
comprising (a) detecting the presence of said individual by entry
of a password on a computer (b) providing through private
communication from a server to the individual on the computer (i) a
list of genetic tests which can be run on a biological sample from
said individual; (ii) first information concerning each of said
genetic tests on said list; (iii) a mechanism for said individual
to directly select at least one of said genetic tests (iv) a
mechanism for payment for said genetic tests; and (v) a mechanism
for said individual to provide informed consent for said genetic
test; (c) wherein upon selection of the genetic test by said
individual, the provision of said payment, and provision of said
informed consent, said server orders from a genetic testing service
the performing of said selected genetic test on said sample (d)
providing through private communication from a server to the
individual on the computer (i) the result of said selected genetic
test in readable form; (ii) second information to assist in
interpreting the result of said selected genetic test; and (iii)
third information to provide genetic counseling relating to the
result of said selected genetic test; wherein said individual has
direct access to each of said first information, second
information, and third information and said result of said selected
genetic test without the intermediation of a health care
professional; and wherein said individual is a non-healthcare
professional.
Description
CROSS REFERENCE TO RELATED APPLICATIONS
[0001] This application claims the benefit of the filing date of
provisional application, U.S. Ser. No. 60/146,742 filed Aug. 2,
1999.
BACKGROUND OF THE INVENTION
[0002] In general, this invention concerns the use of the Internet
or world wide web to provide genetic testing. This invention
describes a site and methods which singularly or together provide
genetic testing including methods for using the Internet or world
wide web to provide individuals with access to genetic testing and
methods that ensure privacy in the selection of genetic tests,
payment, performance of tests, delivery of results, interpretation
of results, and genetic counseling. These methods will increase the
utilization of genetic testing by individuals.
[0003] The following information is provided to assist the
understanding of the reader, none of that information is admitted
to be prior art to the present invention.
[0004] The human genome project is expected to identify
approximately 100,000 different genes within the human genome. The
sequences of these genes and the expression of the RNA and protein
encoded by these genes are critical determinants of individual
development, health, and disease. Variations in the sequences of
these genes and in the characteristics of the products expressed
from these genes underlies many aspects of human individuality
including physical and mental characteristics, growth, longevity,
health, and disease.
[0005] The terms "genetic test" or "genetic testing" refer to the
analysis of DNA, RNA, or protein in a sample from an individual
which determines, without limitation, the sequence of one, or more
than one, gene within the sample, the presence or absence of one,
or more than one, genetic marker, variance, mutation, polymorphism,
or microsatellite sequence associated with a gene, the presence of
one, or more than one, viral sequence, viral-like sequence, or
repetitive sequence, a haplotype spanning one, or more than one,
gene, the number of copies of one, or more than one, gene, the
amount or characteristics of RNA or protein expressed from one, or
more than one, gene, the arrangement of genes within the genome,
the chromosome number, or integrity of chromosomes. This invention
specifically concerns genetic tests useful in medicine for
diagnosing genetic disease, determining an individual's propensity
to multifactorial diseases, and predicting an individual's response
to therapeutic drugs. Genetic tests have been developed for many
inherited diseases including, but not limited to, Huntington's
Disease, Cystic Fibrosis, and Phenyketonuria. Genetic tests have
also been developed for genes that predispose to diseases
including, but not limited to, atherosclerosis, heart failure,
stroke, anemia, cancer, clotting disorders, dementia, endocrine
diseases, and pulmonary diseases. Genetic tests have also been
described which predict the pharmacokinetic and pharmacodynamic
characteristics of many drugs including, but not limited to, drugs
for the treatment of elevated cholesterol, drugs to treat cancer,
drugs to reduce hypertension, and drugs to treat dementia.
[0006] New genetic tests are being discovered at a rapid rate due
to continuing progress of the human genome project and clinical
research using genomic tools. Genetic tests are likely to have a
dramatic impact on health and disease, enabling predisposition
testing and interventions to prevent disease before morbidity is
apparent, providing early diagnosis and therapy, and optimizing
pharmacological interventions with drugs that are likely to be safe
and effective for an individual. The discovery and development of a
genetic test is commonly described in scientific and medical
journals and textbooks of medicine, genetics or clinical pathology,
and the existence and utility of such tests is commonly known to
one skilled in the art. Many genetic tests are known in the art and
are described in reference books such as Scriver et al., The
Molecular Basis of Inherited Disease, McGraw Hill or McKusick's
Mendelian Inheritance in Man. Many genetic tests are described on
the internet at sites such as www.genetests.org or many academic,
sites, commercial sites, or sites dedicated to specific disease
entities by non-profit, patient support groups.
[0007] The internet or world wide web is also likely to have a
dramatic impact on healthcare. The term "e-health" refers to sites
on the Internet that provide medical information, products, or
services to individuals or to health care providers. More than 30%
of all adults, and more than 70% of Internet users, visited
e-health sites on the Internet in 1999. The term "site" refers to
the software and hardware accessible through a URL (Universal
Record Locator) or address on the Internet or world wide web and
includes, without limitation, the concept, design, construction,
appearance, organization, function, and content of materials posted
and accessed at that URL. Current e-health sites focus on providing
medical information and the sale of drugs, materials, equipment, or
other products commonly available through healthcare providers or
pharmacies.
[0008] Kits which enable individuals to perform home certain
diagnostic tests including tests for pregnancy, glucose (diabetes),
and blood clotting times are available through e-health sites or
through healthcare providers or pharmacies. Kits for HIV (AIDS)
testing have also been developed.
[0009] The utilization of genetic tests and the interpretation of
genetic tests is significantly more complex than conventional
diagnostic testing either by healthcare providers or using kits for
home testing. First, the number of potential tests arising from
human genomics is very large compared to the number of conventional
diagnostic tests commonly performed. The genome project is expected
to reveal 10,000-100,000 genes that may be analyzed by genetic
tests, and each gene may contain many different genetic variations.
Second, the use of genetic tests requires interpretation of the
results and genetic counseling unlike conventional testing where
the results are easily interpretable by comparing the amount of a
product or level of activity relative to a normal range. Finally,
informed consent and genetic counseling is often required for
genetic tests, and often mandated by law, to assist individuals in
the use of genetic information. This invention provides methods
that enable selection of an appropriate genetic test and provides
for the interpretation of results and genetic counseling by an
individual. The term "providing genetic testing" refers to the
process of procuring a sample to be tested, selecting a genetic
test or test from among the many genetic tests that are developed,
and reporting rest results. Providing genetic testing may include
the additional steps of interpreting test results, providing
genetic counseling (when necessary), or combining genetic test
results with other medical information. This invention describes a
method for providing genetic testing that enables individuals to
utilize genetic tests in personal healthcare and lifestyle
decisions.
[0010] Despite the potentially great impact of genetic tests on
health care, the utilization of genetic tests is currently very
limited. It should be recognized that, to date, only a fraction of
the genes in the genome have been characterized, and only a small
subset of variations that are predictive of disease or its response
to therapy have been described. Nevertheless, it would be
advantageous to develop methods for making these tests available to
individuals who may realize personal benefit from predicting,
preventing, or treating disease, and that these methods would have
general applicability in enhancing the utilization of genetic tests
and their potential impact on medical care as the number of tests
increases over the next decades.
[0011] In current practice, genetic testing is controlled by health
care providers such as physicians, practitioners specialized in
genetics such as M.D., Ph.D., or M.A. trained geneticists or
genetic counselors, and practitioners specializing in the care of
individuals with disabilities or inherited genetic diseases.
Genetic testing generally requires a referral from a health care
provider. Samples are generally obtained by the health care
provider or a central blood drawing service of a hospital or health
care clinic, and samples are commonly sent to genetic testing
services, often referred to as reference laboratories, such as
Genzyme Genetics (www.genzyme.com), Quest Diagnostics
(www.questdiagnostic.com), Gene Screen (www.genescreen.com), or
others for testing. Genetic tests are also performed in hospital or
academic laboratories. The selection of a genetic test is generally
accessible only by health care providers and is generally not
accessible to individuals. The present invention provides a method
and enabling capabilities that are not anticipated by current
practice in which health care providers have the central role in
the process of selecting genetic tests, receiving the results,
interpreting the results, and genetic counseling.
[0012] The methods described in this invention enable genetic
testing to be controlled by the individual. These methods empower
the individual without referrals to health care providers by
providing the individual with access to genetic testing via the
Internet or world wide web. These methods replace the need to
obtain samples through a hospital or health care clinical with the
ability of individuals to provide samples on their own. These
methods provide individuals with access to the information required
to select tests and the ability to select tests performed by
genetic testing services or reference laboratories and provide for
the results of these tests to be reported directly to the
individual. These methods also provide the individual with the
information required to interpret the tests and information for
genetic counseling. Most important, the methods that are described
will provide a high degree of privacy and minimize the risk of
compromising the confidentiality of the individual, their decision
to seek genetic testing, and the results.
[0013] Information concerning the availability of genetic testing
and its utilization is commonly advertised only to health care
providers and is generally not accessible to individuals. In
addition, the results of genetic tests are commonly reported
directly to the health care provider providing the referral. The
interpretation of a genetic test is generally performed by a health
care provider who has specialized training in genetics and is
trained in how to interpret the results of a genetic test and
provide genetic counseling. Patient support groups specializing in
certain disorders or classes of disorders are often an important
source of information concerning the interpretation of test
results. These organizations generally do not provide testing
directly, but require that individuals work through health care
providers. The present invention provides a method that is not
anticipated by the use of the Internet of world wide web by these
organizations which provide information about specific diseases.
The present invention provides integration of a diverse set of
services required to select genetic tests to interpret the results,
provide genetic counseling, store and distribute samples for
genetic tests, and pay for tests while providing protection for
individual privacy.
[0014] One of the major limitations of current practice is that it
provides little privacy to individuals who may be concerned that
the results of the genetic test could be used to discriminate
against them and provides many risks to confidentiality due to the
number of different people and services that are involved. Every
interaction with a different health care provider and every medical
record that contains information on genetic tests and the results
of genetic tests is a potential risk to the individual's privacy.
Integrating the services necessary for genetic testing, and
providing these services directly to the individual, reduces these
risks and will increase the utilization of genetic testing.
There are several reasons that genetic testing remains
underutilized:
[0015] Limited individual demand for genetic tests. Information
about genetic testing and its applications to improve medical care
is complex and not widely available to individuals. Many health
care providers have little background in genetics and are not able
to provide individuals with information on tests that may be
available and how they may benefit individual care. The ability to
select genetic tests for individuals is generally restricted to a
limited number of health care professionals who have the sufficient
information to make such selection.
[0016] Certain genetic tests which identify an untreatable
condition are often considered to have little clinical utility in
the opinion of a health care provider and are often not offered to
individuals. Nevertheless, many individuals are interested in
having such genetic tests, even if they do not lead to therapy,
simply to know whether they do, or do not, have a risk factor for a
particular disease. This may lead to changes in lifestyle that may
have a positive impact on the individual, their quality of life,
their ability to utilize supportive resources, and their families.
Information on the utility of genetic tests which enables
individuals to select tests that are in their interest will
increase utilization of genetic tests.
[0017] Concern about privacy and discrimination. There is profound
concern about the potential misuse of genetic information to
discriminate against individuals who may have specific genetic
variances. There is particular concern that individuals with
specific genes or variant forms of genes may be discriminated in
terms of access to health care, the cost of health care,
employment, insurance (life, disability, health, etc.), and in
social interactions. The legacy of eugenics, persistent racism, and
popular perceptions concerning genetic and ethnic differences among
individuals heightens concern that genetic information about
individuals will be used for discrimination. There is an extensive
literature on the importance of maintaining the privacy and
confidentiality of genetic records to prevent such abuse, and laws
designed to ensure the privacy of genetic records and prohibit
discrimination are now widespread. Nevertheless, individual concern
that the results of genetic tests may be misused by health care
providers, insurers, employers, or even the government continues to
limit the utilization of many genetic tests. Concern about privacy
and discrimination is probably the single most important factor
limiting the utilization of genetic tests today.
[0018] Poor access through health care providers. Health care
providers frequently have little experience with genetic testing
and many clinical laboratories may be unfamiliar with the
procedures for procuring a genetic test and properly processing
samples such that a test can be performed. This lack of information
and experience represents a further barrier to making genetic
testing widely available to individuals.
[0019] Segmented testing capabilities among many different genetic
testing services or reference laboratories. Genetic testing is
provided by a limited number of genetic testing service providers.
Many genetic tests are proprietary, meaning that one or more
genetic testing services have a license which allows them to
perform certain tests, while other genetic testing services are
prohibited from performing such tests. As a result, it is sometimes
necessary to obtain multiple samples and send the different samples
to different genetic testing services to perform a complete series
of genetic tests. This added complexity represents another
significant barrier to making genetic testing widely available to
individuals.
[0020] Inadequate genetic knowledge to interpret the results of
genetic tests and provide counseling. Genetic counseling is a
critical element of genetic testing. Few health care providers or
individuals have sufficient knowledge to interpret the results of a
genetic test and perform genetic counseling. The need for genetic
counseling in conjunction with genetic testing is mandated by law
in certain jurisdictions. The inability of many health care
providers to provide such counseling is another impediment to the
widespread use of genetic testing, limiting the likelihood both
that a physician will recommend a test and that the individual will
realize the potential benefits from the test.
[0021] Public policy. Public policy regarding genetic testing is
guided by the dual goals of using genomic information as a means
for improving health and the treatment of disease, and real concern
about the potential abuses of genetic information. Laws have been
enacted in many jurisdictions to protect individuals against such
abuses. These laws variously set standards for protecting the
confidentiality of genetic records, set limits on the use of
genetic information, and require genetic counseling to be provided
in conjunction with genetic testing. In some cases, the added
complexity of compliance, and potential penalties for
noncompliance, with laws governing the privacy of medical records
containing genetic information is a further impediment to the
utilization of genetic testing.
Recognizing that it would be advantageous to improve the
utilization of genetic testing, the inventor has developed methods
which address the limitations listed above. These methods
include:
[0022] Offer tests with information about their clinical utility to
individuals. A method for increasing utilization of genetic testing
is to make information concerning tests and their clinical utility
directly available to individuals.
[0023] Direct marketing to individuals through world wide web. A
method for increasing utilization of genetic testing is to market
genetic tests directly to individuals by the Internet and world
wide web. With individuals increasingly turning to the Internet for
information on medical care and medical services, a web site that
directly provides individuals with high quality information about
genetic tests and the ability to select tests directly without the
intermediation of health care providers or referrals from health
care providers will increase the utilization of genetic
testing.
[0024] Ensure privacy of all tests and results. A method for
increasing utilization of genetic testing is to eliminate or
minimize the need for intermediation by health care providers and
provide individuals with direct access to genetic tests.
Specifically, the method enables all aspects of genetic testing
including the provision of information about the availability and
utility of tests, selection of a test, procurement of samples for
testing, processing of the test sample, payment for the test, and
reporting of test results, interpretation of the test results, and
counseling to be provided through direct and private communications
with the individuals via the Internet. This method also includes
strategies for collecting, storing, and distributing samples for
genetic tests that protect patient privacy. Elements of this method
include two, or more than two, of the following: (i) collecting a
sample directly from individuals that can be used for one, or more
than one, genetic test; (ii) encoding the samples with a private
code and sending samples to genetic testing services for testing
identified only by this code; (iii) enabling individuals to access
information concerning genetic tests and select genetic tests
through a web site protected by a password or private code; (iv)
enabling individuals to pay directly for genetic tests without
involvement of healthcare providers, managed care organizations, or
third party payers; (v) providing the results of genetic tests
directly to individuals ensuring privacy through the use of a
password or private code; (vi) providing individuals with
sufficient information to interpret the results of the genetic test
and for genetic counseling through a web site protected with a
password or private code. Methods for private communications via
the Internet, world wide web, or alternate media including without
limitation mail, fax, interactive television, or telephone,
including financial transactions and the transmission of
confidential information are known in the art.
[0025] An important aspect of this method is that privacy is
significantly enhanced by eliminating or minimizing the role of
health care providers, third-party payers, and others in procuring
samples, ordering tests, payment, interpretation of results,
reporting of results, genetic counseling, and reimbursement. It may
be recognized that individuals may choose to make genetic
information available to health care providers or may choose to
accept reimbursement from third-party payers for the cost of such
tests, and that such choices may limit the privacy provided by the
methods described in this invention.
[0026] Provide individuals with direct access to information
required to select tests. A method is described for providing
individuals with access to high quality information about genetic
tests, the ability to select genetic tests, direct reporting of
test results, information required to interpret the test results,
information for genetic counseling, and referrals for genetic
counseling without the intermediary role of the health care
provider. This method is an important departure from current
methods for providing information to individuals and procuring
genetic tests which currently requires intermediation by one or
more health care providers.
[0027] Provide storage of samples and sample distribution for
testing. A method for increasing the utilization of genetic testing
is to provide a resource for storing samples that can be used for a
series of genetic tests selected by the individual over time and
distributing aliquots of this sample to genetic testing providers
when tests are selected by the individual. Samples are preferably
collected directly by the individual or may be collected by a
health care provider at the direction of the individual. Samples
can be collected by a variety of methods known in the art and may
include blood, tissue scrapings, hair, or bodily fluids or
secretions. It will be recognized that samples for genetic testing
can be stable for many years and can be used repeatedly as a source
of materials for genetic tests. The method involves establishing
central facilities for storing samples identified only by a private
code. When a test is ordered by an individual providing a password
or private code that matches the sample, an aliquot of the stored
sample is distributed to the appropriate genetic testing service
identified only by a private code for genetic testing. Many
aliquots can be taken from a single sample, and aliquots can be
sent to several different genetic testing services which offer
different proprietary tests or perform multiple tests at different
times without the need for the individual to provide multiple
samples.
[0028] One of the simple but important benefits of this invention
is that by storing samples for genetic tests, it will be possible
to perform multiple tests over a period of months to years without
the need to obtain additional samples. This is possible because the
fundamental genetic material of the individual does not change
significantly over time. It will be recognized that the need to
obtain a sample, by, for example, having blood drawn, is unpleasant
and, in itself, an impediment to genetic testing. Thus, the storage
of a sample that may be used for genetic testing makes it easier
for an individual to choose to utilize genetic testing.
[0029] It is recognized that the Internet and world wide web are
recognized as a means for ordering many different products and
services and disseminating information about companies and their
products. Many genetic testing services currently maintain sites on
the world wide web which describe the company's business and the
services they provide. Some provide information of a general nature
of links to other sites with genetic information. The present
invention provides a method that is not anticipated by these
established uses of the Internet and world wide web, namely the
integration of two, or more than two, of the following steps in
genetic testing including selection, reporting of results,
interpretation and counseling together with the storage of samples
for genetic tests, mechanisms to procure tests from various
providers and distribute samples for testing, and mechanisms to
protect individual privacy.
[0030] Provide source of high quality information. The method
involves the provision of high quality information to aid the
selection of tests as well as the interpretation of the results of
genetic tests and genetic counseling. The method involves creation
of a set of information which can be accessed by individuals via
the world wide web or other media. This information may comprise,
but is not limited to, text in books, pamphlets or electronic
format, video, audio, or interactive computer systems. This
information can be ordered by individuals through the Internet
using a password protected web site to preserve confidentiality.
This method will provide superior genetic counseling to that
available from many health care providers and satisfy mandated
requirements for providing such counseling. This will also allow
individuals to access information at an appropriate level of
complexity and detail without involving additional health care
providers or payers that represent a risk to privacy. Most
important, the quality of this information can be controlled in a
way that is not possible when counseling is provided by a health
care provider who may not have in depth training in either genetics
or the process of genetic counseling.
[0031] It is also recognized that a great deal of information about
genetic disease, the genetic causes of disease, and genetics in
general is available via Internet and the world wide web. Much of
this information is provided by sources that are not qualified to
assist individuals in the selection of genetic tests,
interpretation of the results of genetic tests or genetic
counseling. In some cases, information available on the Internet
and world wide web is not designed to provide quality genetic care,
but rather further political, scientific, or religious goals. In
many cases there is misinformation available on the Internet and
world wide web. In other cases, the information on the Internet or
world wide web is of high quality and highly technical (for example
Genbank, on-line medical and scientific publications, Medline,
genetests.org) and is intended for use by professional scientists
or health care providers, and is not suitable for use by many
individuals. The present invention provides a service that is not
anticipated by these established uses of the Internet and world
wide web by providing high quality information designed explicitly
to be useful to an individual in the selection of genetic tests,
interpretation of the results, and genetic counseling.
[0032] New testing paradigm for social acceptance. This method
meets the dual societal goals of making the benefits of genetic
information available to individuals to improve health care while
providing protection against the use of this information for
discrimination. This method is also designed to meet social and
legal mandates for confidentiality and privacy of genetic
information and genetic counseling. This method dramatically
changes the focus of genetic testing from current methods and those
known in the art which require health care providers to serve as
intermediaries in genetic testing. Eliminating the need for
intermediation by health care providers by providing the individual
with the information and access necessary to select genetic tests
and receive and interpret the results represents a fundamentally
new method for utilizing genetic testing. By providing the
individual with control over genetic testing and a maximum degree
of privacy, societal concerns are addressed to a level far greater
than current practice.
[0033] Other features and advantages of the invention will be
apparent from the following description of the preferred
embodiments and from the claims.
BRIEF SUMMARY OF THE INVENTION
[0034] This invention describes a method for providing genetic
testing comprising two, or more than two, of the steps of: [0035]
collecting and storing a sample; [0036] posting a list of genetic
tests and information concerning genetic test; [0037] selecting of
a genetic test or tests from said list; [0038] distributing an
aliquot of said sample to a genetic testing service to perform said
genetic test or tests; and [0039] posting the results of said tests
in a manner that may be accessed by an individual. [0040] posting
materials for interpreting the results of said test that may be
accessed by said individual; [0041] posting materials for genetic
counseling that may be accessed by said individual; [0042] posting
a program to aid the individual in the selection of genetic tests,
interpreting the results of said test, or genetic counseling that
may be accessed by an individual.
[0043] In a preferred embodiment of this method, the selecting of a
genetic test or tests is performed by an individual. In a preferred
embodiment of this method, the collection of a sample is performed
by an individual.
[0044] In a preferred embodiment of the invention, two, or more
than two, steps are enabled in an integrated manner. In a preferred
embodiment of the invention, two or more than two steps are enabled
in an integrated manner through a site accessible via the Internet.
In alternative embodiments of the invention the method comprises
more than seven, more than five, or more than three steps performed
in an integrated manner.
[0045] An object of this invention is a site which provides genetic
testing to an individual by enabling two, or more than two, of the
steps of: [0046] collecting and storing a sample; [0047] posting a
list of genetic tests and information concerning genetic tests;
[0048] selecting of a genetic test or tests from said list; [0049]
distributing an aliquot of said sample to a genetic testing service
to perform said genetic test or tests [0050] posting the results of
said tests in a manner that may be accessed by said individual;
[0051] posting materials for interpreting the results of said test
that may be accessed by said individual; and [0052] posting
materials for genetic counseling that may be accessed by said
individual. [0053] posting a program to aid the individual in the
selection of genetic tests, interpreting the results of said test,
or genetic counseling that may be accessed by said individual.
[0054] A preferred object of the invention is a site which enables
the selecting of a genetic test or tests by an individual. A
preferred object of the invention is a site which enables the
collecting of a sample by an individual.
[0055] A specific objection of the invention is a site which
enables two, or more than two, steps to be performed in an
integrated manner. An alternative objects of the invention is a
site that enables more than seven, more than five, or more than
three of the steps enumerated above to be performed in an
integrated manner.
[0056] The preferred embodiment of this invention is a method of
providing genetic testing in which an individual makes the
selection of a genetic test or tests comprising one, or more than
one, of the steps of: [0057] collecting and storing a sample;
[0058] posting a list of genetic tests and information concerning
genetic tests that may be accessed by an individual; [0059]
distributing an aliquot of said sample to a genetic testing service
to perform said genetic test or tests; and [0060] posting the
results of said tests in a manner that may be accessed by said
individual. [0061] posting materials for interpreting the results
of said test that may be accessed by said individual; [0062]
posting materials for genetic counseling that may be accessed by
said individual; [0063] posting a program to aid the individual in
the selection of genetic tests, interpreting the results of said
test, or genetic counseling that may be accessed by said
individual.
[0064] In alternative embodiments of this method, three, five, or
seven of the steps enumerated above are provided in an integrated
manner. In a preferred embodiment of this method, three five, or
seven of the steps enumerated above are provided in an integrated
manner though a site accessible through the Internet. The preferred
method is one in which collection of a sample is performed by said
individual.
BRIEF SUMMARY OF THE DRAWINGS
[0065] FIG. 1. A model of a site described in this invention. The
site contains a posting a list of genetic tests and information
concerning genetic tests that may be accessed by an individual, a
mechanism which enables individuals to select and pay for genetic
test, a posting of results of genetic tests performed for the
individual, and a posting of materials for interpreting the results
of genetic tests. This home page demonstrates the integration of
information about genetic tests, test results, information for
counseling with mechanisms for individuals to access this
information, select tests, and receive results and counseling at
the site.
[0066] FIG. 2. The site enables individuals to receive information
about specific genetic tests and order these tests using an
integrated system.
[0067] FIG. 3. The site enables individuals to review the results
of genetic tests performed previously in a private genetic medial
record and can select tests that they would like to have
performed
[0068] FIG. 4. The site enables individuals to pay for genetic
tests that they have selected using a credit card or other
confidential financial instrument. The site also directs
individuals how to obtain reimbursement from third party
payers.
[0069] FIG. 5. The site provides individuals with information about
genetic test sufficient to provide informed consent and enables
individuals to provide a legally binding informed consent.
[0070] FIG. 6. The site enables individuals to order tests online
and receive results in an integrated manner. In this example,
individuals are asked to indicate how they would like to be
notified when the results are available.
[0071] FIG. 7 (a-b). The site enables individuals to submit a
sample for DNA banking. This sample will be identified only by a
private code and can be used for genetic testing over a period of
many years.
DETAILED DESCRIPTION
[0072] This invention concerns the use of the Internet or world
wide web to provide genetic testing and methods for providing such
services to individuals. The term "providing genetic testing"
refers to the process of procuring a sample to be tested, selecting
a genetic test or test from among the many genetic tests that are
developed, and reporting rest results. Providing genetic testing
may include the additional steps of interpreting test results,
providing genetic counseling (when necessary), or combining genetic
test results with other medical information.
[0073] This invention describes a method for utilization of genetic
testing comprising the steps of: [0074] collection and storage of a
sample; [0075] posting a list of genetic tests and information
concerning said tests that may be accessed by an individual; [0076]
selection of specific genetic tests by an individual; [0077]
distributing an aliquot of the said sample to a genetic testing
service to perform said tests; [0078] posting the results of said
tests that may be accessed by an individual; [0079] posting
materials for interpreting the results of said test and genetic
counseling that may be accessed by an individual.
[0080] This invention describes a site which enables individuals to
utilize genetic testing through the steps of: [0081] collection and
storage of a sample provided by an individual; [0082] posting a
list of genetic tests and information concerning said tests that
may be accessed by an individual; [0083] selection of specific
genetic tests by an individual; [0084] distributing an aliquot of
the said sample to a genetic testing service to perform said tests;
[0085] posting the results of said tests that may be accessed by an
individual; [0086] posting materials for interpreting the results
of said test and genetic counseling that may be accessed by an
individual.
[0087] An alternative embodiment of the invention is a method for
utilization of genetic testing involving the selection of genetic
tests by an individual and one, or more than one, of the following
steps: [0088] collection and storage of a sample provided by an
individual; [0089] posting a list of genetic tests and information
concerning said tests that may be accessed by an individual; [0090]
distributing an aliquot of the said sample to a genetic testing
service to perform said tests; [0091] posting the results of said
tests that may be accessed by an individual; [0092] posting
materials for interpreting the results of said test and genetic
counseling that may be accessed by an individual; [0093] posting a
program to aid the individual in the selection of genetic tests,
interpreting the results of said test, or genetic counseling that
may be accessed by an individual.
[0094] An alternative object of this invention is a site enabling
the selection of genetic tests by an individual and one, or more
than one, of the following steps: [0095] collection and storage of
a sample provided by an individual; [0096] posting a list of
genetic tests and information concerning said tests that may be
accessed by an individual; [0097] distributing an aliquot of the
said sample to a genetic testing service to perform said tests;
[0098] posting the results of said tests that may be accessed by an
individual; [0099] posting materials for interpreting the results
of said test and genetic counseling that may be accessed by an
individual; [0100] posting a program to aid the individual in the
selection of genetic tests, interpreting the results of said test,
or genetic counseling that may be accessed by an individual.
[0101] An alternative embodiment of the invention is a method for
utilization of genetic testing involving the collection and storage
of a sample provided by an individual and one, or more than one, of
the following steps: [0102] posting a list of genetic tests and
information concerning said tests that may be accessed by an
individual; [0103] selection of specific genetic tests by an
individual, [0104] distributing an aliquot of the said sample to a
genetic testing service to perform said tests, [0105] posting the
results of said tests that may be accessed by an individual [0106]
posting materials for interpreting the results of said test and
genetic counseling that may be accessed by an individual. [0107]
posting a program to aid the individual in the selection of genetic
tests, interpreting the results of said test, or genetic counseling
that may be accessed by an individual.
[0108] An alternative object of the invention is a site which
enables the collection and storage of a sample provided by an
individual and one, or more than one, of the following steps:
[0109] posting a list of genetic tests and information concerning
said tests that may be accessed by an individual; [0110] selection
of specific genetic tests by an individual, [0111] distributing an
aliquot of the said sample to a genetic testing service to perform
said tests, [0112] posting the results of said tests that may be
accessed by an individual [0113] posting materials for interpreting
the results of said test and genetic counseling that may be
accessed by an individual. [0114] posting a program to aid the
individual in the selection of genetic tests, interpreting the
results of said test, or genetic counseling that may be accessed by
an individual.
[0115] In a specific embodiment of the invention, two or more than
two, of the steps of posting, accessing, selecting, interpreting,
and counseling are performed in an integrated manner via the
Internet or world wide web and are integrated with the steps of
collecting, distributing, and storage. The term "integrated" means
available through a linked system or systems. In the preferred
embodiment of this invention these steps are integrated on a site
accessible via the Internet or world wide web. In an alternative
embodiment of this invention these steps are integrated by
alternate media including without limitation mail, fax, interactive
television, telephone, or publication.
[0116] A specific object of the invention is a site which enables
individuals with two or more than two, of the steps of posting,
accessing, selecting, interpreting, and counseling in an integrated
manner. In an alternative object of this invention the site is
integrated with one, or more than one, step provided by alternate
media including, without limitation, mail, fax, interactive
television, telephone, or publication.
[0117] Specific embodiments of the invention involve the selection
of genetic tests by an individual and two, or more than two, of the
steps of posting, accessing, interpreting, and counseling are
provided in an integrated manner via the Internet or world wide web
and are integrated with the steps of collecting, distributing, and
storage, A specific object of the invention is a site which enables
for selection of genetic tests by an individual and two, or more
than two, of the steps of posting, accessing, interpreting, and
counseling. In an alternative object of this invention the site is
integrated with alternate media including without limitation mail,
fax, interactive television, telephone, or publication.
[0118] An object of this invention is a site on the Internet or
world wide web containing a posting of genetic tests that may be
selected by an individual. A specific object of this invention is a
site on the Internet or world wide web for selection of tests by an
individual which provides for two, or more than two, of the steps
of collecting, distributing, storage, posting, accessing,
interpreting, and counseling in an integrated manner. In an
alternative embodiment of this invention one, or more than one of
the steps of collecting, distributing, storage, posting, accessing,
interpreting, or counseling are provided for by alternate media
including without limitation mail, fax, interactive television,
telephone, or publication.
[0119] An object of this invention is a site on the Internet or
world wide web which enables individuals to access information
about genetic tests, select genetic tests, access the results of
said tests, and access information required to interpret the
results of said tests or access information required for genetic
counseling. In specific embodiments, the site on the Internet or
world wide web enables the individual to access one, two, or more
than two of the following: (i) information about genetic tests,
(ii) selection of genetic tests, (iii) the results of said tests,
(iv) information required to interpret the results of said tests,
or (v) information required for genetic counseling. In a specific
embodiment, access to the site, or portions of the site, requires a
password or private code. In an alternative embodiment, the site is
integrated with alternate media including without limitation mail,
fax, interactive television, telephone, or publication which
provide one, or more than one, of these functions.
[0120] An embodiment of this invention is the collection and
storage of samples provided by an individual for the purposes of
distributing aliquots of samples to genetic testing services to
perform tests selected by an individual. A specific embodiment of
this invention is the distribution of aliquots of samples to
genetic testing services to perform tests selected by an
individual.
[0121] An object of this invention is a site which enables
individuals to access and select genetic tests, the results of
genetic tests, the interpretation of the results or genetic
counseling which utilizes passwords and private codes to ensure the
privacy of the individual. A further object of this invention is a
site which utilizes passwords and private codes to ensure the
privacy of an individual accessing and selecting genetic tests, the
results of the genetic tests, the interpretation of the results, or
genetic counseling. A further object of this invention is a site
that uses private codes to ensure the privacy of samples collected,
stored or distributed for genetic tests. In a specific object of
this invention, the samples which are distributed to genetic
testing services contain a private code and not the name of the
individual.
[0122] The terms "Internet" or "world wide web" are known in the
art and refer to electronic networks, or elements of electronic
networks, for the exchange of information between individuals and
includes, without limitation, public systems such as the world wide
web and public or private systems providing access to sites on said
network including, without limitation, companies with private
networks accessed by telephone, cable, wireless devises, or
satellite or sites providing portals for entry into any public or
private network. The term "site" refers to the software and
hardware accessible through a URL (Universal Record Locator) or
address on the Internet or world wide web and includes, without
limitation, the concept, design, construction, appearance,
organization, function, and content of materials posted and
accessed at that URL.
[0123] Methods for constructing and operating the site anticipated
by this invention including the software to create and operate the
site and the hardware and Internet connections that make sites
available over the Internet are generally known in the art, are
described in many books for lay and professional users of the
Internet, and are available from commercial vendors. For example,
FrontPage (Microsoft Corporation) is a simple computer program
which can be used to create a site. More sophisticated sites are
generally created directly in languages such as HTML and Java by
companies dedicated to webdesign and construction. Sites are
commonly linked to various databases. For this invention, the site
may be linked to databases of information about genetic testing, a
database of individuals who use the site, and databases containing
personal genetic or medical records. Databases may be constructed
and maintained using commercially available software such as
Oracle. Digital signatures can be used implemented using VeriSign
Secure Digital ID. Payment may be made by credit card or by way of
Cyber\Cash. A payment system may also include software for
correctly calculating sales tax and specifying shipping options
such as Taxware and TanData. A site is commonly hosted on a server
by an ISP (Internet Service Provider) such as UUNet, Genuity, ATT
or Verio. The site anticipated by this invention could be hosted on
a commercially available server such as a Compaq Enterprise Hosting
NT system and run Microsoft Site Server Edition 3.0 and SQL Server
Database. Various security systems and systems for encrypting data
are known in the art and are generally available in major browser
products. These systems are used to protect the privacy of
individual medical and financial records that may be available
through the Internet. While this invention will benefit from
continuing advances in Internet software, hardware, and practices,
the elements required to construct and operate the site anticipated
by this invention are generally available in the art.
[0124] A specific object of this invention is a site that
integrates two, or more than two, steps required to provide genetic
testing services as enumerated above. Specific objects of this
invention are the software and hardware capable of carrying out the
unique methods and embodiments described including without
limitation, the concept, design, construction, appearance,
organization, function, and content of a site that integrate the
multiple steps required to provide genetic services. Specific
embodiments also include the software and hardware capable of
carrying out the unique methods and embodiments described including
without limitation, the concept, design, construction, appearance,
organization, function, and content of a site integrated with
alternate media including without limitation mail, fax, interactive
television, or telephone to provide genetic testing.
[0125] The term "individual" refers to, without limitation, any
person including a patient as well as family, friends, or agents of
a person or patient other than those working in their capacity as
health care providers. The term "individual" excludes
biopharmaceutical companies and their agents or affiliates and the
organizers, sponsors, staff, or investigators of clinical trials.
The term "health care provider" is commonly known in the art and
includes, without limitation, physicians, practitioners specialized
in genetics such as M.D. or Ph.D. trained geneticists or genetic
counselors, practitioners specializing in the care of individuals
with disabilities or inherited genetic diseases.
[0126] An embodiment of this invention is the collection and
storage of samples provided by an individual. The terms
"collection" or "collecting" refer to the process of obtaining a
sample from an individual that contains DNA in a form that can be
used for genetic testing. In a preferred embodiment of this
invention, collection is performed by the individual and the sample
is then sent to a central facility for storage. The terms "storage"
or "storing" refer to the process of maintaining the samples under
conditions that preserve the integrity of the sample such that it
can be used for genetic testing together with a system for tracking
the location of the sample so that it can be retrieved. In a
preferred embodiment, the samples are stored and used for multiple
genetic tests to be performed at different times. A "central
facility" is a facility that has the equipment and resources
necessary to preserve and track the sample in an integrated manner
with posting. A central facility may be operated in accordance with
FDA or CLIA (Clinical Laboratory Improvement Amendments)
regulations. In alternative embodiments of this invention the
sample may be collected by an individual or a health care provider
and sent to the central facility. In the preferred embodiment of
this invention the sample is collected by the individual.
[0127] An embodiment of this invention is the storage of the sample
in a central facility identified with a private code such that
aliquots of the sample can be distributed to genetic testing
providers. The term "private code" refers to a series of
alphanumeric characters which provide a unique identifier for each
sample. In an alternative embodiment of this invention the private
code could be a fingerprint, handwriting sample, electronic voice
print, or other unique identifier of the individual known in the
art.
[0128] The term "sample" refers to, but is not limited to, an
aliquot of blood, hair, cells from a scraping of skin, mucosal
membranes, or other body part, or bodily secretion including
saliva, mucous, urine, or feces useful for genetic testing. The
term sample also refers to, without limitation, DNA, RNA, protein
or other materials useful for genetic testing extracted or purified
from sources such as an aliquot of blood, hair, cells from a
scraping of skin, mucosal membranes, or other body part, or bodily
secretion, for example saliva, mucous, urine, or feces.
[0129] In specific embodiments of this invention the sample is
collected in a container or on an absorbent surface. A "container"
is a device that holds the sample. Various containers for holding
samples are known in the art. The container commonly comprises a
surface or contains reagents that prevent degradation of the sample
as well as a closure mechanism that protects the sample from the
environment. Various containers are known in the art. An "absorbent
surface" commonly comprises a sheet of material which can hold or
bind the sample. Various absorbent surfaces for holding or binding
samples are known in the art. In specific embodiments the absorbent
surface can be used to purify DNA, RNA or protein. In a preferred
embodiment of this invention, the container or absorbent surface
allows a sample to be collected by an individual. Specific objects
of this invention are the containers that enable individuals to
collect samples.
[0130] In a specific embodiment of this invention the sample is
collected in stored such that the sample can be separated into
aliquots that can be sent to different genetic testing services.
The term "aliquot" refers to an amount of the sample, a container
or absorbent surface containing a sample, or DNA, RNA, or protein
purified from a sample in an amount sufficient to perform a genetic
test and in a form suitable for performing said tests.
[0131] In a preferred embodiment of this invention the sample is
collected by the individual using a puncture device to draw blood
which is placed in a container or on an absorbent surface. In a
specific embodiment the device is designed specifically to causes a
puncture of the skin sufficient to collect the amount of blood
required for testing. In specific embodiments the puncture is
sufficient to collect more than one drop. In preferred embodiments,
the puncture is sufficient to collect 5-10 drops or 200-500 ul of
blood. In a further embodiment, the device contains both elements
designed to puncture the skin and a container or an absorbent
surface designed to store the sample. In an alternative embodiment
of this invention, the sample is collected by the individual as
hair or by scraping of skin, mucosal membranes or other body part
or bodily secretion including, but not limited to, saliva, sputum,
or feces.
[0132] In a specific embodiment of this invention the individual is
provided with a container or absorbent surface with a private code
and this code is used to store and label the sample. In a specific
embodiment the container or absorbent surface is labeled with a
fingerprint, handwriting sample, electronic voice print, or other
unique identifier of the individual known in the art. In an
alternative embodiment the container or absorbent surface is
labeled by the individual using a private code. In specific
embodiments the container or absorbent surface is labeled with a
print, type, array of spots or marks, a magnetic strip, bar code,
or other media for automatic reading. In a specific embodiment, the
container or absorbent surface does not contain the name of the
individual. A specific object of this invention is a container or
absorbent surface which is labeled with a private code,
fingerprint, handwriting sample, electronic voice print, print,
type, array of spots or marks, magnetic strip, bar code or other
unique identifier of the individual known in the art and does not
contain the name of the individual.
[0133] An object of this invention is a site which includes the
posting of information for access by individuals which may be used
to select tests, interpret results or for genetic counseling. The
term "posting" or "posted" refers to making a source of information
available for access by individuals. The terms "accessing" or
"access" refers to the ability of an individual to retrieve,
receive, or review the information that is posted. In specific
embodiments of this invention there is posted two, or more than
two, of the following elements: (i) a list of available genetic
tests; (ii) information that enables an individual who accesses
this list to select tests that may be of interest to them, (iii)
the results of genetic tests, (iv) information for the
interpretation of genetic tests, (v) information for genetic
counseling concerning genetic test results, (vi) programs to assist
the individual with selecting a genetic test, interpreting test
results, or genetic counseling. In a specific embodiment of this
invention, the information to be posted is incorporated in a
database and posting is on a site on the Internet that can be
accessed via the world wide web. In a further embodiment of this
invention at least one of these elements is posted on a site and
one, or more than one, of these elements are posted by an alternate
media including without limitation mail, fax, interactive
television, telephone, or publication. In specific embodiments
posting may comprise, but is not limited to, one, or more than one,
of the following: alphanumeric text, pictures, pictographs,
symbols, audio, voice, video, or animation.
[0134] A specific object of the invention is a site for posting. In
specific embodiments the site contains two, or more than two of the
following elements (i) a list of available genetic tests; (ii)
information that enables an individual who accesses this list to
select tests that may be of interest to them, (iii) the results of
genetic tests, (iv) information for the interpretation of genetic
tests, or (v) information for genetic counseling concerning the use
of genetic test results, (vi) programs to assist the individual
with selecting a genetic test, interpreting test results, or
genetic counseling. An alternative object of the invention is a
site on the Internet for posting which contains at least one of
these elements integrated with the posting of one, or more than
one, of these elements by an alternate media including without
limitation mail, fax, interactive television, telephone, or
publication.
[0135] In a specific embodiment of this invention is a posting of
two, or more than two, different genetic tests that may be selected
by an individual. An alternative embodiment of this invention is
the posting of more than five different genetic tests that may be
selected by an individual. A further embodiment of this invention
is the posting of more than ten different genetic tests that may be
selected by an individual. A further embodiment of this invention
is the posting of more than twenty-five different genetic tests
that may be selected by an individual. A preferred embodiment is
the posting of more than one hundred genetic tests that may be
selected by an individual. In specific embodiments there is posted
on a site which enables the selection of genetic tests by an
individual, information on more than two genetic tests for access
by individuals which may be used to select tests, interpret results
or for genetic counseling. In alternative embodiments there is
posted information on more than five genetic tests, alternatively
information on more than ten genetic tests, alternatively
information on more than twenty-five genetic tests, or most
preferably information on more than one hundred genetic tests. A
specific object of this invention is a site with the posting of
information on more than two, five, ten, twenty-five, or preferably
more than one hundred genetic tests. An additional object of this
invention is a site which enables individuals to select from more
than two, five, ten, twenty-five, or preferably more than one
hundred genetic tests.
[0136] In a specific embodiment of this invention accessing or
access is limited to individuals having a password or private code.
The term "password" refers to a set of alphanumeric characters
known by the individual which allows access to the posted
materials. The term password may also refer to fingerprints,
handwriting samples, electronic voice prints, images, or other
unique identifier of the individual known in the art. Methods for
limiting access to individuals with passwords are known in the
art.
[0137] "Selection" or "selecting" refers to the ordering or
purchasing a genetic test to be performed on an individual sample.
Selection causes a test to be performed and, in specific
embodiments of this invention, causes an aliquot of a sample to be
sent to a genetic testing service and the results to be provided to
the individual. Selection can be made using a site and methods
known in the art such as "point and click" where an icon or link on
the site enables individuals to select a test. The term selection
also includes payment provided to cover the cost of the test and
any ancillary services.
[0138] The terms "utilization" or "utilize" refer to one or more of
the selection of a genetic test, accessing the results of genetic
tests, the interpretation of genetic test results, or counseling
concerning genetic test results. Genetic counseling is designed to
guide an individual in the utilization of genetic test results. A
test may be utilized by an individual or a health care provider.
Genetic tests can be utilized for many purposes including making
health care choices including choices about reproduction as well as
many lifestyle decisions related to diet, employment, work habits,
recreational habits, retirement, education or insurance. It will be
apparent that an individual who receives information about genetic
tests, selects a genetic test, receives the result of a genetic
test, or receives information for interpretation and counseling
utilizes genetic tests, whether or not that individual chooses to
make changes in their healthcare or lifestyle as a result. It will
also be recognized that an individual who communicates the
information about a genetic test, genetic test results, or
information for interpretation and counseling to a healthcare
provider also utilizes genetic tests in seeking to improve their
healthcare.
[0139] An object of this invention is a site that enables the
selection of genetic tests by an individual. An embodiment of this
invention is the selection of genetic tests by an individual. In
preferred embodiments, the test is selected by an individual who is
a patient, and individual who is a family member of a patient, an
individual who is a friend or agent of a patient other than those
who may be working in their capacity as health care providers. In a
preferred embodiment, selection is performed by an individual using
a password or private code. In a further embodiment of this
invention, selection is performed using information concerning the
utility of a list of available genetic tests posted for access by
an individual and integrated with the method for selection. In a
specific embodiment of this invention the selection is made by the
individual, not by a health care provider on behalf of an
individual person or patient.
[0140] In specific objects of this invention, the site contains
information concerning the utility of a list of available genetic
tests posted for access by an individual and integrated with the
method for selection.
[0141] In an alternative embodiment of this invention, the
selection is made by a health care provider acting as an agent for
the individual and the individual access the results of the test
and information useful in selecting test, interpreting results, or
genetic counseling. A specific object of this invention is a site
which enables a health care provider to select genetic tests and
the individual to access test results and information useful in the
selection of genetic tests, the interpretation of genetic
tests.
[0142] In an alternative embodiment of this invention, the
selection is made by an individual with the authorization of a
health care provider and the individual access the results of the
test and information useful in selecting test, interpreting
results, or genetic counseling. A specific object of this invention
is a site which enables a health care provider to authorize an
individual to select genetic tests genetic tests and the individual
to access test results and information useful in the selection of
genetic tests, the interpretation of genetic tests. The terms
"authorize" or "authorization" refer to the action of a health care
provider which enables an individual to select a genetic test. In
states where a prescription is necessary for genetic testing, a
health care provider may provide an authorization for individual to
select tests.
[0143] In a specific embodiment of this invention, the individual
provides payment as part of the process of selection by providing
for use of a credit card, debit card, account, bank account, or
other forms of electronic payment using methods known in the art.
In an alternative embodiment of this invention, the individual
provides information which allows for reimbursement from payers
including, but not limited to, health insurance providers,
medicare, or medicaid. In a specific embodiment of this invention,
payment, forms of electronic payment, or reimbursement are arranged
over the Internet or world wide web. In an alternative embodiment
of this invention there is posted for access by an individual using
a password or private code, information sufficient for the
individual to obtain reimbursement. In an alternative embodiment of
this invention, payment, use of forms of electronic payment,
reimbursement, or information sufficient for reimbursement are
provided by alternate media including without limitation mail, fax,
interactive television, or telephone. A specific object of this
invention is a site which enables individuals to pay for genetic
tests by providing for use of a credit card, debit card, account,
bank account, or other forms of electronic payment using methods
known in the art. In an alternative object of this invention, is a
site which enables individuals to access information which allows
for reimbursement of genetic tests from payers including, but not
limited to, health insurance providers, medicare, or medicaid.
[0144] In a further embodiment of the invention the process of
selection involves providing informed consent. By "informed
consent" is meant a process by which individuals receive
information about a genetic test that they may wish to select, and
provide legally binding consent for such a test to be performed on
their sample. Consent may be given using electronic signatures or
other legal methods known in the art including without limitation
mail or fax. In a further embodiment of this invention the informed
consent may include a program or a self-assessment test in which
individuals are presented with questions to assess their knowledge
about a test that they wish to select. A specific object of this
invention is a site that enables individuals to give informed
consent for a genetic test.
[0145] An object of this invention is a site that controls the
distribution of an aliquot of a sample to genetic testing service
to perform a test selected by an individual. An embodiment of this
invention is the distribution of an aliquot of a sample to a
genetic testing service to perform the test selected by an
individual. The term "distribution" refers to sending an aliquot of
a sample from a central facility where the sample is stored to a
genetic testing service for the purposes of performing a selected
genetic test. In an embodiment of this invention the sample is
distributed to a genetic testing service that is not associated
with the central facility for DNA storage. In an alternative
embodiment, the sample is distributed to a genetic testing service
that is associated with the central facility for DNA storage. A
specific object of this invention is a site which enables
individuals to track the progress of a sample within a central
facility through distribution to a genetic testing service.
[0146] An embodiment of this invention is that the selection of a
genetic test by an individual, payment, or reimbursement are
integrated with the distribution of an aliquot of the sample, or
DNA purified from the sample, is distributed to a genetic testing
service that is capable and qualified to perform the selected test.
The tests selected by the individual are then performed by the
genetic testing service. The term "associated" refers to genetic
testing services that have the same ownership as the central
facility, are majority owned by the central facility, own a
majority of the central facility, share majority personnel with the
central facility, share working facilities with the central
facility. Associated does not refer to genetic testing services
that have contracts to perform work for the central facility. The
term "genetic testing service" refers to any entity capable and
qualified to perform selected genetic tests and includes, without
limitation, specialized genetic testing services, diagnostic
reference laboratories providing genetic testing, hospital
laboratories, clinical chemistry laboratories, or other entities
performing genetic testing. Genetic testing services may be
regulated by federal agencies including the FDA or CLIA.
[0147] The terms "genetic test" or "genetic testing" refer to the
analysis of DNA, RNA, or protein in a sample from an individual
which determines, without limitation, the sequence of one, or more
than one, genes within the sample, the presence or absence of a
genetic marker, variance, mutation, polymorphism, or micro
satellite sequence associated with a gene, the presence of a viral
sequence, viral-like sequence, or repetitive sequence, a haplotype
spanning one, or more than one, gene, the number of copies of one,
or more than one gene, the amount or characteristics of RNA or
protein expressed from a gene, the arrangement of genes within the
genome, the chromosome number, or integrity of chromosomes. This
invention preferably concerns genetic tests useful in diagnosing
genetic disease, determining an individual's propensity to
multifactorial diseases, and predicting an individual's response to
therapeutic drugs. Excluded from the definition of genetic tests
are tests to determine paternity or maternity or for forensic
analysis, or to determine sex, even if such tests incorporate
elements of genetic analysis, since such tests are generally not
useful for medical purposes.
[0148] The term "gene" is commonly known in the art and is a linear
sequence of nucleotides within the human genome that encodes a
biological function. A gene commonly directs the expression of RNA
or protein which may be directly responsible for carrying out the
function encoded by the gene, or the RNA or protein may be modified
to carry out such functions. The gene may include introns, exons,
promoters, or other sequences which are involved in directing the
biological function. It is recognized to those in the art that the
sequence of nucleotides (a,g,c,t) within the gene which encode its
function may vary in different individuals, and that variances or
mutations within the sequences of nucleotides may change the
function. A "variance" or "mutation" is a specific sequence within
a gene that is an identifies genes with specific functions or
contributes to specific functions. A "genetic marker",
"polymorphism", "single nucleotide polymorphism" (SNP), or "micro
satellite sequence" are specific sequences within a gene that
identify genes with specific functions, though such sequences often
do not contribute to that function. Those skilled in the art will
recognize that the terms variance, mutation, genetic marker,
polymorphism, SNP are often used interchangeably.
[0149] A genetic test is distinct from paternity or maternity
testing or forensic testing, even if such tests involve the
analysis of DNA or protein from an individual. Such tests are not
useful in diagnosing genetic disease, determining an individual's
propensity to multifactorial diseases, and predicting an
individual's response to therapeutic drugs. Moreover, such testing
does not involve specific genes or genetic marker, variance,
mutation, polymorphism, or micro satellite sequence associated with
a gene, but commonly involve anonymous markers throughout the
genome.
[0150] A preferred embodiment of this invention is that the aliquot
of the sample that is distributed is identified only by a private
code. In alternative embodiments, the sample may contain a private
code together with other identifying information.
[0151] An embodiment of this invention is the posting of the
results of the genetic test for access by the individual. A
specific embodiment of this invention is the posting of results of
the genetic test for access by individuals through a password or
private code. The term "results" refers to the determination, using
a genetic test, of the sequence of a gene or the presence or
absence of one, or more than one, genetic markers, variance,
mutation, polymorphism, or micro satellite sequences associated
with a gene, the presence of a viral sequence, viral-like sequence,
repetitive sequence, a haplotype spanning one, or more than one,
gene, the number of copies of one, or more than one, gene, the
amount or characteristics of RNA or protein expressed from a gene,
the arrangement of genes within the genome or information
concerning the chromosome number or integrity of chromosomes, all
being the subject of genetic tests known in the art. In an
alternative embodiment of this invention, the results are posted
for access by health care providers. A specific object of this
invention is a site for posting the results of genetic tests for
access by an individual.
[0152] An object of this invention is a site with the posting of
materials for interpreting the results of said test and material
and genetic counseling that may be accessed by an individual using
a password or private code. "Interpreting" the results means
relating the technical description of the test result, namely the
sequence of one, or more than one, gene within the sample, the
presence or absence of a genetic marker, variance, mutation,
polymorphism, or micro satellite sequence associated with a gene,
the presence of a viral sequence, viral-like sequence, repetitive
sequence, a haplotype spanning one, or more than one, gene, the
number of copies of one, or more than one, gene, the amount or
characteristics of RNA or protein expressed from a gene, the
arrangement of genes within the genome or information concerning
the chromosome number or integrity of chromosomes to a specific
medical condition or risk of a specific medical condition. Examples
of interpretation include, but are not limited to, the
determination of whether a specific change in the nucleotide
sequence is normal or likely to cause disease or determining
whether a haplotype corresponds to a form of a gene with a
predictable genetic effect.
[0153] "Counseling" means providing information concerning the use
of the results of a genetic test in choosing medical care,
assessing disease risk, family planning, or personal activities.
Examples of counseling include, but are not limited to, determining
the likelihood that an individual will have a certain form of
cancer based on the results of a genetic test, determining the
likelihood of an inherited certain genetic disorder based on the
results of a genetic test, or selecting a drug which is likely to
be safe and effective based on the results of a genetic test. An
embodiment of this invention is the posting of information
concerning genetic tests, for selection, interpretation, or
counseling. A further embodiment is a site which can be accessed by
an individual that integrates selection, interpretation, or
counseling. A preferred embodiment is the access to such
information or site using a password or private code. In
alternative embodiments, the posting of such information are
provided by alternate media including without limitation mail, fax,
interactive television, telephone, or publication. In an
alternative embodiment there is posted a list of genetic counselors
or health care providers with expertise or geographical proximity
required to provide counseling to the individual.
[0154] An object of this invention is a site that provides
individuals with access to materials for use in interpreting or
counseling including, but not limited to, text in books, pamphlets
or electronic format, video or audio, or interactive computer
systems or other interactive media, such material being posted on
the Internet or world wide web or provided via an alternate media
including, but not limited to, mail, fax, interactive television,
telephone, or publication. An alternative object of this invention
is a site with posted information for the individual identifying
health care providers who specialize in interpreting or genetic
counseling. In a specific embodiment of this invention, there is
posted a catalogue of materials for interpreting or counseling that
may be purchased by accessing the posted information using a
password or private code.
[0155] In further embodiments of this invention, one, or more than
one, non-genetic tests are performed in conjunction with the
genetic test which are useful in selecting, interpreting or
counseling. Non-genetic tests may include, but are not limited to,
blood tests to determine the content of cells, proteins, salts,
enzymes, carbohydrates, fats, or other constituents of the blood,
or tests performed on urine or feces. In a preferred embodiment,
the individual can access information, select such tests, and
access the results through a system integrated with genetic
testing.
[0156] An object of this invention is a program for collecting
information concerning an individual useful in the selection of a
genetic test, interpretation of a genetic test, or genetic
counseling where said program is posted on the Internet or world
wide web and is accessed using a password or private code. A
specific embodiment of this invention is a program useful in the
selection, interpretation, or counseling where said program is
posted on the Internet or world wide web and is accessed using a
password or private code. The term "program" means an interactive
medium such as a questionnaire or a computer program which is
accessed via the world wide web which involves queries for
information concerning the individual where such information is
useful in selection, interpretation, or counseling. In alternative
embodiments, the program is posted by an alternate media including,
but not limited to, mail, fax, interactive television, telephone,
or publication. A program may consist of software, hardware, or
printed materials and may involve one, or more than one of, a
database with an individual's medical records, statistical or
analytical analysis, or links to clinical databases or published
medial information. A specific object of the invention is the
posting of a program on the site. An alternative object of the
invention is the posting of a program comprised of software by
mail.
[0157] An object of this invention is a site with the posting of a
program for collection of information about the individual
including, but not limited to, their health, development, medical
history as well as their genetic or family history, their medical
history, as well as a genetic or family history which would be
useful in selecting, interpreting, or counseling. In a specific
embodiment this posting can be accessed only with a password or
private code. In a specific embodiment, there is posted a program
which uses the collected information to assist the individual in
selecting a genetic test. In a specific embodiment there is posted
a program which uses the collect information to assist the
individual in selecting, interpreting, or counseling. In
alternative embodiments, the program is posted by an alternate
media including, but not limited to, mail, fax, interactive
television, telephone, or publication.
[0158] An embodiment of this invention is the posting of an
individual record which can be accessed through the Internet or
world wide web using a password or private code where the
information in the record is useful in the selection of genetic
tests, interpretation of test results, or genetic counseling. The
term "record" means a compilation of information about the
individual such as a medical record including, but not limited to,
the results of genetic tests, the results of non-genetic tests, a
history of health, development, and illness, or a genetic or family
history. In a specific embodiment of this invention, the individual
record is compiled using a program. In alternative embodiments of
this invention, the individual record is provided by the individual
or health care providers. In alternative embodiments, the record is
posted by an alternate media including, but not limited to, mail,
fax, interactive television, telephone, or publication.
[0159] The invention is illustrated further by the following
examples, which are not to be taken as limiting in any way. It
should be understood that although the present invention has been
specifically disclosed by preferred embodiments and optional
features, modification and variation of the concepts herein
disclosed may be resorted to by those skilled in the art, and that
such modifications and variations are considered to be within the
scope of this invention as defined by the appended claims.
Example 1
Genetic Testing for Prevention of Breast Cancer
[0160] An individual concerned about her risk for breast cancer
accesses information about genetic tests which predict the risk of
cancer through a site such as www.mygenome.com. The site contains
information about tests for genes including BRCA1, BRCA2, p53, p21,
p16 and other genes that have been implicated as predisposing
factors for breast cancer. The individual selects a password which
provides private access to additional information at the site and
enables her to select genetic tests which she would like performed.
The site also contains a program which queries the individual about
her family history or breast cancer, age of menstruation, age of
first pregnancy, and exposure to potential carcinogens, all of
which have been implicated as risk factors for breast cancer.
[0161] Because of her family history or breast cancer, the patient,
guided by a program on the site, selects to have a test for
mutations in the BRCA1 gene. The individual also chooses to provide
a sample herself. Through the site, the patient requests that an
appropriate container be sent to her which enables her to provide a
sample of blood from a finger prick (equivalent to a glucose
stick). The container is pre-labeled with a private code. Using the
appropriate device and container, several drops of blood are
obtained and the sample is returned to the central facility. The
individual retains the private code number of her sample.
[0162] Using the password the individual accesses www.mygenome.com,
selects the BRCA1 test, and provides the private code that
identifies her sample. She also chooses to pay by a credit card,
rather than involve third party payers, and provides the account
information for a VISA card. She also asks for documentation that
will allow her to seek reimbursement at a later date.
[0163] Once the test is selected, the central facility removes an
aliquot of the sample and, with the sample identified only with the
patient code, sends the aliquot to Myriad Diagnostics, Inc. which
has proprietary tests for mutations in BRCA1. The results of the
test are provided to mygenome.com and are posted for the patient by
confidential mail and on www.mygenome.com such that it can only be
accesses with her password.
[0164] Two variances in the sequence of the BRCA1 gene in the
individual are identified by the genetic test that are different
from the "normal" consensus sequence. To interpret the results, the
individual accesses www.mygenome.com using her password and learns
that one of the variances that was identified is common in people
of her ethnic origin and is thought to have no effect on the risk
of breast cancer. The other variance has been reported in
individuals with a moderate risk of breast cancer if there are also
mutations in a second gene BRCA2. The individual therefore selects
to have an additional test performed for BRCA2, chooses again to
pay using her VISA card, and another aliquot of the sample is then
sent for BRCA2 testing identified only by a private code. The
results show that there are no mutations in the BRCA2 gene.
[0165] The individual seeks counseling information through
www.mygenome.com using her password and accesses information which
indicates that she may have a risk of breast cancer 1.5-2 times
that of individuals who have no mutations in BRCA1. She also learns
that there is an ongoing study of the use of Tamoxifen to prevent
breast cancer in individuals with mutations in BRCA1. She is
provided with the name and address of a local health care provider
who is expert in the prevention and treatment of breast cancer as
well as the name and address of an investigator performing this
trial. She chooses to contact the investigator of this study and,
through the site, asks that the results of the BRCA1 and BRCA2
tests be sent to this investigator.
[0166] This example illustrates that the accessing, selecting,
testing, interpreting and counseling for genetic testing is
performed in a fully confidential and private manner using private
communications through the Internet and through the storage and
distribution of samples identified only by private codes. Using
this method, the individual is able to access quality information
required to select genetic tests that may have an important impact
on her future health without risking a loss of privacy and
attendant discrimination.
Example 2
Genetic Tests Predicting Common Diseases
[0167] Most common diseases are caused by a combination of genetic
and environmental factors. Such diseases occur at higher frequency
in individuals who have mutations in one or more critical genes,
but also require the coincidence of environmental factors. Genetic
testing for such diseases can be effective in identifying whether
an individual is at risk so that the environmental factors which
contribute to the disease can be avoided or treated through changes
in lifestyle or healthcare. Examples of genetic tests that predict
the risk of common disorders are: [0168] Disorder: Genetic test
[0169] Cancer Breast Cancer (BRCA1)*; BRCA1; Ovarian Cancer (BRCA1)
[0170] Breast Cancer (BRCA2)*; BRCA2; Ovarian Cancer (BRCA2) [0171]
p53 [0172] p21 [0173] p16 [0174] Ataxia Telangectasia [0175]
Familial Colorectal Cancer; Familial Colon Cancer [0176] Medullary
Thyroid Carcinoma; MTC [0177] Others . . . [0178] Alzheimer's
Disease Apolipoprotein E [0179] .beta. amyloid precursor protein
[0180] protein .tau. [0181] presenilin-1, presenilin-2 [0182]
.alpha. 2-macroglobulin [0183] a 1-antichymotrypsin [0184] Heart
attack, stroke Apolipoprotein E [0185] Lipoprotein lipase [0186]
LDL receptor [0187] MTHFR [0188] ALS Superoxide Dismutase (SOD)
[0189] COPD .alpha. 1-antitrypsin (AAT) [0190] Anemia hemoglobin S
[0191] hemoglobin C [0192] thalassemia (.alpha.) [0193] thalassemia
(.beta.) [0194] G-6 PD [0195] Liver failure Hemochromatosis [0196]
Spina Bifida MTHFR
Example 3
Genetic Tests Predictive of Drug Response
[0197] Variations in genes that affect the metabolism of drugs can
increase drug levels, drug toxicity and drug interactions. Genetic
tests can be used to avoid drugs that have a higher probability of
toxicity and individualize the dose to maximize the therapeutic
benefit while minimizing toxicity. The following are examples of
tests that can be used to guide the safety and appropriate
application of important drugs. [0198] CYP1A1 Chlorinated benzenes
(environmental toxin) [0199] CYP1A2 Caffeine, phenacetin, warfarin,
Erythromycin, Ropivacaine, Haloperidol, antipyrine, theophylline,
Paracetamol [0200] CYP2C8 TCA, Diazepam, Hexabarbitone [0201]
CYP2C9/10 Phenytoin, S-warfarin, Diclofenac, Tolbutamide [0202]
CYP2C19 Mephenytoin, Diazepam (Valium), TCA [0203] CYP2D6
Debrisoquine, Codeine, Dextrometorphan, b-blockers, SSRIs, others
[0204] CYP2E1 Paracetamol, Isoflurane, Sevoflurane, Methoxyflurane,
Enflurane, Trichorethylene [0205] CYP3A4 Nifedipine,
Dextrometorphan, Alfentanil, Sufentanil, Fentanyl, Erythromycin,
Lignocaine, Ropivacaine, Midazolam, Codeine, Granisetron,
Hydrocortisone [0206] CYP3A5 Caffeine, Diltiazem [0207] CYP3A7
Midazolam [0208] CYP17 Pregnolone [0209] CYP19 Testosterone [0210]
CYP21 A2 17-hydroxyprogesterone Variations in genes that affect
drug targets and drug response may affect the safety and efficacy
of a drug. Genetic tests can be used to avoid drugs that have a
higher probability of toxicity and individualize the dose to
maximize the therapeutic benefit while minimizing toxicity. [0211]
Factor V Oral contraceptives [0212] Prothrombin Oral contraceptives
[0213] TPMT (thiopurine methyltransferase) Azothioprine,
mercaptopurine (purine analogues) [0214] 5' lipoxegenase Zilutin
(5' lipoxegenase inhibitors) [0215] CETP (cholesterol ester
transfer protein) Pravastatin, others (statins) [0216] ApoE
(apolipoprotein E) Tacrine (cholinesterase inhibitors, muscarinic
agonists, others) [0217] G-6 PD (glucose 6 phosphase dehydrogenase)
sulfur drugs [0218] pseudocholinesterase pseudocholinesterase
inhibitors [0219] .beta.-receptor Isoproterenol (.beta.-agonists)
[0220] Serotonin transporter SSRI antidepressants (Prozac,
Pindolol, others) [0221] acetyltransferase isoniazid, others [0222]
ADH(2h) (aldehyde dehydrogenase) alcohol [0223] ACE (angiotensin
converting enzyme) Enalpril, others [0224] opioid receptors
Endorphins, morphine
Example 4
Genetic Tests for Inherited (Single Gene) Disease
[0225] A large number or inherited genetic diseases are caused by
well-characterized mutations in genes that impair the function of a
gene or cause a gene to have dominant, adverse effects. Many of
these tests are performed in academic, hospital clinical
laboratories or in the research laboratories of scientists who
study these disorders. The following is partial list of genetic
tests for inherited genetic diseases. This list was derived, in
part, from http://www.genetests.org.
Achondroplasia*
Adenosine Monophosphate Deaminase 1*; AMPD1; Exercise-Induced
Myopathy
Adrenoleukodystrophy, X-linked*; Addison Disease and Cerebral
Sclerosis;
Adrenomyeloneuropathy; Adrenoleukodystrophy, Recessive*; Neonatal
Adrenoleukodystrophy
Alpha Thalassemia
Alpha-1-Antitrypsin Deficiency
Amyloidosis Type I*; Amyloid Polyneuropathy, Andrade or Portugese
Type; Amyloidosis, Portugese Type
Amyloidosis, Swedish Type
Angelman Syndrome
Azoospermia*; Oligospermia (CFTR)
Bloom Syndrome*
Canavan Disease
Carnitine Palmitoyltransferase Deficiency*; CPT I Deficiency; CPT
II Deficiency
Carnitine Deficiency, Systemic*
Charcot-Marie-Tooth Disease, X-linked*; CMTX; HMSN, X-linked;
Hereditary Motor and Sensory Neuropathy, Charcot-Marie-Tooth
Disease,
Citrullinemia*
Congenital Bilateral Absence of the Vas Deferens*; CBAVD
Congenital Adrenal Hyperplasia*; 21-Hydroxylase Deficiency; CAH
Cystic Fibrosis*; CF
Cytochrome C Oxidase Deficiency*; COX Deficiency
Dentatorubral-Pallidoluysian Atrophy*; DRPLA
[0226] Duchenne Muscular Dystrophy*; BMD, included; Becker Muscular
Dystrophy, included; DMD
Dystonia Type I*; Torsion Dystonia 1, Dominant
Early Onset Familial Alzheimer Disease*; AD1; AD3; AD4; Alzheimer
Disease, Type I; Alzheimer Disease, Type
Factor V Leiden Mutation*; Resistance to Activated Protein C;
Thrombophilia V(Protein C Resistance); Thrombosis Risk Factor
(Factor V Leiden)
[0227] Fragile X Syndrome*; FRAXA; Martin-Bell syndrome
Friedreich Ataxia
Galactosemia*; Galactose-1-Phosphate Uridyltransferase
Deficiency
Gaucher Disease*; Glucocerebrosidase Deficiency
Genotypic Gender Assignment*; XX/XY Gender Assignment
Glycogen Storage Disease Type III*; Cori Disease; Debrancher
Deficiency; Forbe Disease
Glycogen Storage Disease Type VII*; PFK Deficiency;
Phosphofructokinase Deficiency; Tarui Disease
Glycogen Storage Disease Type IV*; Brancher Deficiency
Glycogen Storage Disease Type V*; McArdle Syndrome
Glycogen Storage Disease Type II*; Pompe Disease
Hemochromatosis
Hemoglobin E*
Hemoglobin C*; SC Disease; Sickle Cell Disease (Hemoglobin C)
Hemoglobin S*; Sickle Cell Anemia; Sickle Cell Disease (Hemoglobin
S)
Hemophilia A*; Factor VIII Deficiency
Hemophilia B*; Christmas Disease; Factor IX Deficiency
Hereditary Motor and Sensory Neuropathy, Dominant (Type I)
[0228] Hereditary Neuropathy with Liability to Pressure Palsies*;
HNPP
Huntington Disease*; HD
Hydrocephalus, X-linked*; Aqueductal Stenosis,
Hypochondroplasia
Kennedy Disease*; SBMA; Spinal and Bulbar Muscular Atrophy
Lactate Dehydrogenase Deficiency*; LDH Deficiency
Late Onset Familial Alzheimer Disease*; AD2; AD5; Alzheimer Disease
(Apolipoprotein E); Alzheimer Disease, Medium Chain Acyl-CoA
Dehydrogenase Medullary Thyroid Carcinoma*; MTC
Leber Hereditary Optic Neuropathy
Marfan Syndrome*
Medium Chain Acyl-CoA Dehydrogenase Deficiency*; MCAD
Deficiency
Mitochondrial Myopathy*; Kearns-Sayre Syndrome; LHON; Leigh
Disease; MELAS; MERRF; NARP
MTHFR Thermolabile Variant*; Cardiovascular Risk Factor, Neural
Tube Defect Risk Factor, Preeclampsia Risk Factor, Thrombosis Risk
Factor
Multiple Endocrine Neoplasia Type 2B/3*; MEN2B; MEN3
Multiple Endocrine Neoplasia Type 2A*; MEN2A
Myotonic Dystrophy*; Steinert Disease
Neurofibromatosis Type II*; NF2
Neurofibromatosis Type I*; NF1; Von Recklinghausen Disease
Niemann-Pick Disease*
Norrie Disease*
Parentage Testing*; Maternity Testing; Paternity Testing
Phenylketonuria, Phenylalanine Hydroxylase Deficiency
Phosphoglycerate Mutase Deficiency*; PGAM Deficiency
Phosphoglycerate Kinase Deficiency*; PGK Deficiency
Phosphorylase Kinase Deficiency of Liver and Muscle*
Prader-Willi Syndrome
Protein C; Thrombophilia V(Protein C Resistance); Thrombosis Risk
Factor (Factor V Leiden)
Refsum Syndrome, Adult*; Phytanic Acid Oxidase Deficiency,
Adult
Refsum Syndrome, Infantile*; Phytanic Acid Oxidase Deficiency,
Infantile
Rh C Genotyping
Rh D Genotyping
Rh E Genotyping
Sex-Determining Region Y*; SRY
Siemerling-Creutzfeldt Disease
Spinal Muscular Atrophy Types I/II/III*; Kugelberg-Welander; SMA;
Werdnig-Hoffmann Disease
Spinocerebellar Ataxia Type VII*; Olivopontocerebellar Atrophy III;
SCA7
Spinocerebellar Ataxia Type VI*; SCA6
Spinocerebellar Ataxia Type I*; Olivopontocerebellar Atrophy I;
SCA1
Spinocerebellar Ataxia Type II*; Olivopontocerebellar Atrophy,
Holguin; SCA2
Spinocerebellar Ataxia Type III*; Machado-Joseph Disease; SCA3
Spinocerebellar Ataxia Type VIII*; SCA8
Tay-Sachs Disease*; GM2 Gangliosidosis
Thanatophoric Dysplasia Type I*
[0229] Thanatophoric Dysplasia Type II*; Cloverleaf Skull with
Thanatophoric Dysplasia; Thanatophoric Dysplasia with
Kleeblattschaedel
Thrombosis Risk Factor (Factor V Leiden)
Williams Syndrome
X Inactivation Studies
Y Chromosome Detection/Molecular Genetics
[0230] Zellweger syndrome*; Cerebrohepatorenal Syndrome
Zygosity Testing*; Twinning
Example 5
Site for Increasing Utilization of Genetic Testing
[0231] This invention describes a site which enables individuals to
select genetic test which includes a posting of genetic tests and
information concerning said tests that may be accessed by an
individual, enables selection of specific genetic tests by an
individual including methods of payment, provides for the
collection of samples from an individual and the distribution of an
aliquot of the sample, the posting of the results of the test in a
private medical record, the posting of materials for interpreting
the results of a test and for genetic counseling that may be
accessed by an individual, and the posting of programs to aid the
individual in the selection of genetic tests, interpreting test
results, and genetic counseling that. An important feature of the
site is that the posting of information for accessing, selecting,
interpreting, and counseling and mechanisms for selecting,
accessing, and paying are available in an integrated manner with
the steps of collecting, distributing, and storage or samples at a
site on the internet. Elements of a site with these features are
illustrated in FIGS. 1-7.
* * * * *
References