Genetic Testing for Clinical and Forensic Purposes Needs Regulation

Genetic tests include the analysis of DNA, RNA, chromosomes, proteins, and metabolites to detect inheritable disease-related conditions for clinical purposes. This includes predicting risk of disease, carrier screening, and prenatal screening. There are about 900 genetic tests currently available.

Despite their utility in aiding clinical decision-making, relatively few guidelines exist for genetic testing. The present guidelines were developed by professional health care organizations whose practices were impacted first by the availability of genetic tests--those practicing medical genetics, pediatrics, reproductive medicine, and more recently, oncology. However, as genetic testing moves into the medical mainstream, a wide variety of professional health care organizations will need to develop guidelines.

Genetic testing is also used for identifying people by their DNA, as an aid for forensic investigations. It is invaluable tool for solving crimes, identifying victims' remains, and exonerating those who were wrongly convicted. The use of DNA evidence in law enforcement has tremendous potential to promote justice but it raises many legal, ethical, and social concerns. Forensic genetics takes advantage of the fact that all individuals, with the exception of identical twins, have a unique DNA code.

There is considerable disagreement over how DNA databases should be used in law enforcement and whose profiles should be included in them. The wide variety of laws governing DNA databases reflects the lack of an overall consensus.

Recently there has been worldwide concern that genetic tests and the laboratories that perform them are not sufficiently well supervised. In the United States the Department of Health and Human Services (Washington, DC, USA) decided to form an advisory committee to examine the problem. The committee included a number of federal agencies such as the U.S. Centers for Disease Control and Prevention (Atlanta, GA, USA), Center for Medicare and Medicaid Services (Baltimore, MD, USA), Food and Drug Administration (FDA, Rockville, MD, USA), and Federal Trade Commission (Pennsylvania Avenue N.W., Washington D.C., USA)

That committee's draft report found significant gaps in regulation and called on the government and private businesses to work together to rectify the situation.. The committee found that some testing, such as that for caffeine metabolism and fetus gender testing are skirting the boundaries of current regulation. The report said the Clinical Laboratories Improvement Amendments of 1988, which cover lab regulations, should be expanded to cover genetic testing. In addition laboratories that make false and misleading claims for genetic tests should be carefully monitored.

The report also said there is insufficient information on the clinical usefulness of genetic testing and called on HHS to fund an assessment of these tests. That is particularly important because insurance companies are increasingly requiring evidence of clinical utility before they will pay for the tests.


Related Links:
U.S. Centers for Disease Control and Prevention
U.S. Food and Drug Administration
U.S. Department of Health and Human Services