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Genetic Testing
Overview of Genetic TestingThe 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.
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
Legislation on Genetic TestingLegislation is being considered by Congress that would prohibit genetic discrimination by employers or health insurance providers (See: Genetic Discrimination: Legislation).
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.
NHGRI Interest in Genetic TestingConcerns and ActivitiesTests 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 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.
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.
Policy RecommendationsDiscrimination 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.
Reports on Genetic Testing
Last Updated: December 17, 2008 |