Ensuring the correct use of genetic tests is an important challenge for health-policy makers. Many new genetic tests will identify susceptibility to common diseases or adverse drug responses. Some will lead to new prevention opportunities, but others will have minimal clinical value. Statutory regulation alone cannot guarantee appropriate use. Other strategies, including resource allocation and matters related to clinical governance — such as practice-guideline development and health-provider education — are also important.
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This work was supported in part by the US National Human Genome Research Institute (W.B.). The Public Health Genetics Unit is funded by the UK Departments of Health and the Wellcome Trust. The views expressed are those of the authors and do not necessarily reflect the views or positions of the authors' affiliations.
The authors declare no competing financial interests.
- ANALYTIC VALIDITY
The accuracy with which a particular genetic characteristic — such as a DNA sequence variant, chromosomal deletion or biochemical indicator — can be identified in a given laboratory test.
- CLINICAL UTILITY
The risks and benefits resulting from test use.
- CLINICAL VALIDITY
The accuracy with which a test identifies or predicts a patient's clinical status.
- PERSONALIZED MEDICINE
The use of genetic susceptibility or pharmacogenetic testing to tailor an individual's preventive care or drug therapy.
The study of drug responses related to inherited genetic differences.
A genetic condition resulting in the inability to metabolize normal amounts of the amino acid phenylalanine. Mental retardation occurs if the condition is untreated, but can be prevented by the initiation of a phenylalanine-restricted diet in the newborn period.
An anti-metabolite medication used to treat some kinds of cancer.
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