Genetic Testing
Ethical, Legal and Social Implications Research Program On Other Sites: The Future of Genetic Testing
From NIH NewsInHealth
Genetic Testing
- Overview of Genetic Testing
- The Growth of Genetic Testing Raises Questions
- Legislation on Genetic Testing
- NHGRI Interest in Genetic Testing
- Policy Recommendations
- Reports on Genetic Testing
Overview of Genetic Testing
The term "genetic testing" covers an array of techniques including analysis of human DNA, RNA or protein. Genetic tests are used as a health care tool to detect gene variants associated with a specific disease or condition, as well as for non-clinical uses such as paternity testing and forensics. In the clinical setting, genetic tests can be performed to confirm a suspected diagnosis, to predict the possibility of future illness, to detect the presence of a carrier state in unaffected individuals (whose children may be at risk), and to predict response to therapy. They are also performed to screen fetuses, newborns or embryos used in in vitro fertilization for genetic defects.
Scientists are revealing ever more associations between particular gene mutations and disease, and over a thousand tests can now determine whether a person carries a particular disease-associated allele. As the number of tests continues to rise, their use in the health care setting is becoming more commonplace. NHGRI is funding research into innovative sequencing technologies so that, in a few years, the sequencing of a patient's entire genome will be an affordable standard diagnostic tool used in health care. Using genomic sequencing, it will be possible to analyze all of a patient's genes to detect which disease-associated gene variants they carry.
- A Brief Primer on Genetic Testing
A paper presented at the World Economic Forum in 2003 by Francis Collins.
Many genetic tests are marketed directly to consumers on the internet and elsewhere. Some companies advertise clinical genetic tests directly to consumers. This raises concern because it leads to instances where customers receive clinically significant test results without appropriate counseling from a health care professional, and are left to interpret complex results on their own. Other companies offer tests and associated merchandise purported to help clients select an optimal diet, stop smoking, or maintain a youthful appearance. These claims lack sufficient scientific support to demonstrate their validity.
Several agencies are involved in oversight of genetic testing. The Centers for Medicare and Medicaid Services (CMS) regulates clinical laboratory testing to ensure laboratory compliance with the Clinical Laboratory Improvement Amendment of 1988, showing accuracy and reliability in conducting assays. The Federal Trade Commission (FTC) oversees advertising of tests and products. The Food and Drug Administration (FDA) regulates tests sold as "diagnostic devices," that is, tests manufactured by one company and then sold as a kit to a laboratory for genetic testing. However, the FDA does not regulate "home brew" tests, that is, tests that are both manufactured and performed by the same laboratory. Many common genetic tests (including the BRCA breast cancer gene tests) fall into this category. Because of this regulatory exception, genetic testing services using home brew tests can be marketed directly to the medical community - and the public - without FDA regulation or oversight.
The Growth of Genetic Testing Raises Questions
- How should such tests be regulated? Should "home brew" tests be regulated by the FDA just like diagnostic devices?
- What criteria should be used to determine whether a test can be patented (See Intellectual Property and Genomics), and how do such patents affect scientific research?
- What level of analytical validity (accuracy of the test result), clinical validity (use of the test as a diagnostic tool), or clinical utility (use of test result for treatment) should be required for tests offered to the public?
- What counseling should be provided for recipients of test results, and who should provide that guidance?
- How can the public be protected from genetic discrimination?
Legislation on Genetic Testing
Legislation is being considered by Congress that would prohibit genetic discrimination by employers or health insurance providers (See: Genetic Discrimination: Legislation).
- Prenatally Diagnosed Condition Awareness Act [thomas.loc.gov](Introduced in House March 16, 2005) [H.R.1353.IH]
- Prenatally Diagnosed Condition Awareness Act [thomas.loc.gov] (Introduced in Senate )[S.609.IS]
- Overview of Genetic Testing [genes-r-us.uthscsa.edu] By Laura Sternesky, Association of State and Territorial Health Officials. January 2002.
Advisory Committees:
The Secretary's Advisory Committee on Genetics, Health, and Society (SACGHS) - staffed by the National Institutes of Health (NIH) Office of Biotechnology Activities - provides policy advice to the Department of Health and Human Services (DHHS) on the broad array of complex medical, ethical, legal and social issues raised by genetic testing.
- SACGHS Website: Secretary's Advisory Committee on Genetics, Health, and Society [oba.od.nih.gov]
- SACGHS Predecessor Committee: Secretary's Advisory Committee on Genetic Testing (SACGT) [oba.od.nih.gov] (charter expired)
NHGRI Interest in Genetic Testing
Concerns and Activities
Tests that detect gene variants associated with disease are diagnostic tools
that advance healthcare. Because of its increasing influence on public health,
the NHGRI is monitoring the development of genetic testing practices. NHGRI
is particularly interested in issues surrounding the establishment of clinical
utility and validity of such tests. As a member of SACGHS, NHGRI is participating
in designing advisory guidelines for the direct marketing of tests to consumers.
NHGRI is concerned that public fear of genetic discrimination is hindering scientific advances that would lead to diagnostic
genetic tests and drugs targeted to individuals with a specific genetic profile.
NHGRI is studying the possible effects of intellectual property on the future of genetic testing and the integration of genomic medicine into health care in the U.S.
- See: Reaping the Benefits of Genomic and Proteomic Research: Intellectual Property Rights, Innovation, and Public Health [nap.edu]
Genetic counseling is important for those who are considering genetic testing. NHGRI is interested in assuring high standards for the field and participates in a joint training program for genetic counselors with Johns Hopkins University. NHGRI is committed to helping ensure access to genetic counselors for those in need.
- Direct to Consumer Marketing of Genetic Tests
- NHGRI Direct to Consumer Advertising Workshop Summary
- Direct-to-Consumer marketing SACGHS Letter to the Secretary of Health and Human Services [oba.od.nih.gov] (December 8, 2004)
- Secretary Leavitt's Response to SACGHS [oba.od.nih.gov] (March 3, 2005)
- Senate Labor and Human Resources Committee Hearing on NIH Revitalization, Cancer & Genetics
Testimony by NHGRI Director Dr. Francis Collins, March 6-7, 1996.
Policy Recommendations
Discrimination in health insurance, and the fear of potential discrimination, threaten both society's ability to use new genetic technologies to improve human health and the ability to conduct the very research we need to understand, treat and prevent genetic disease. NHGRI advocates for a federal resolution to the public's concern that, by availing themselves to genetic tests, they risk being discriminated against by employers and heath insurance providers (See: Genetic Discrimination).
NHGRI supports intellectual property [national academies.org] practices that both enable research to advance and foster the development of genetic testing products and associated medicines.
- Subcommittee Hearing on Task Force for Genetic Testing
Testimony by NHGRI Director Dr. Francis Collins, July 22, 1997 - Advances in Genetics Research and Technologies: Challenges for Public Policy
Senate Committee on Labor and Human Resources. Testimony by NHGRI Director Dr. Francis Collins, July 25, 1996. - Senate Cancer Coalition Hearing on Genetic Testing
Senate Cancer Coalition. Testimony by NHGRI Director Dr. Francis Collins, September 29, 1995.
Reports on Genetic Testing
- Genetic Testing: What It Means For Your Health and Your Family's Health
- Genetests [ncbi.nlm.nih.gov]
NIH database of available genetic tests and clinics and laboratories performing genetic testing - Promoting Safe and Effective Genetic Testing in the United States
- Genetic Testing and the Use of Information [aei.org]
- Genetic and Public Policy Center Summary of Genetic Testing [dnapolicy.org]
- Task Force Recommends Against Routine Testing for Genetic Risk of Breast
or Ovarian Cancer in the General Population
- Read the Recommendation: Genetic Risk Assessment and BRCA Mutation Testing
for Breast and Ovarian Cancer Susceptibility [ahrq.gov]
U.S. Preventive Services Task Force, September 2005
- Read the Recommendation: Genetic Risk Assessment and BRCA Mutation Testing
for Breast and Ovarian Cancer Susceptibility [ahrq.gov]
- Genetic Testing for Cystic Fibrosis Consensus Statement [consensus.nih.gov]
1997 Conference.- Followup Workshop
1997 - Population Screening for the Cystic Fibrosis Gene
1990 National Institutes of Health Workshop Statement.
- Followup Workshop
- Promoting Safe and Effective Genetic Testing in the United States
1997 Report by the Ethical, Legal and Social Implications Program Working Group Task Force. - Reproductive Testing: Impact on Women
1993 National Institutes of Health Workshop Statement.
Last Reviewed: April 4, 2011