In the news

The US Secretary's Advisory Committee on Genetic Testing (SACGT) has published its final report on the oversight of genetic tests. The report is the culmination of a process that began in June 1999 and involved extensive public consultation. A set of preliminary recommendations was issued earlier this year, and the final report was published after review of comments on these recommendations. A genetic test is defined as an analysis of DNA. RNA, genes or chromosomes that is designed to detect heritable or acquired genotypes, mutations, phenotypes or karyotypes that are likely to cause a specific disease or condition. The definition also includes analysis of "proteins and certain metabolites" that are predominantly used for the same purpose.

Five major issues were identified, including the criteria for assessing the risks and benefits of genetic tests, the categorisation of different tests, and the options for evaluation and oversight of tests in each category. A particularly interesting aspect of the report is the proposal to assign tests to different categories according to the level of scrutiny they require. The level of scrutiny would depend on such factors as whether the test is diagnostic or predictive, whether interventions are available for the condition it detects, and the penetrance of the gene variant tested for. If the recommendations are adopted, an SACGT working group will be set up with the aim of devising procedures for classifying tests. Data on the analytical and clinical validity and the clinical utility of tests would be collected by test developers working together with relevant agencies of the Department of Health and Human Services. The US Food and Drug Administration (FDA) would be responsible for reviewing, approving and labelling all tests that have moved beyond the basic research phase; the stringency of its review of a proposed test would be proportional to its scrutiny category. Only laboratories certified under the Clinical Laboratory Improvement Amendment regulations would be allowed to "return test results used for purposes of treating, diagnosing or assessing a person's health". After licensing, the continued collection of information on test performance and use would be encouraged and facilitated, to enable ongoing evaluation.