Promoting Safe and Effective Genetic Tests in the United States: Work of the Task Force on Genetic Testing (Clinical Chemistry Forum‪)‬

Since I spoke at this Forum in 1993 (1), the emphasis in human genetics research has shifted from rare Mendelian disorders to common, complex diseases, but "Issues of benefits and risks of genetic testing", the title of my earlier presentation, have, if anything, become more important. The growing interest of clinical researchers in the role of genes in common diseases and of commercial firms in genetic testing lends new urgency to establishing benefits and risks. Large collaborative projects have been undertaken to look for gene loci at which the presence of specific alleles increase the risk of asthma, bipolar affective disorder, diabetes, hypertension, schizophrenia, and other disorders. The last 5 years have seen the marketing of commercial tests for predicting risks of breast and colon cancer despite warnings of the Advisory Council of the National Human Genome Research Institute and, separately, the American Society of Human Genetics that testing for susceptibility to common cancers should be conducted on a research basis only (2, 3). A commercially available test for the apolipoprotein E e4 allele was available to predict the risk of Alzheimer disease until professional statements criticized its use in clinically unaffected individuals (4,5). It remains on the market for diagnostic testing. A survey completed for the Task Force on Genetic Testing early in 1995 found that 53 biotechnology companies were developing or performing tests for genetic disorders. The companies were much more likely to be developing tests for common complex disorders than for relatively rare single gene disorders (Table 1) (6). Reflecting concern about the rapid proliferation of genetic tests before their safety and effectiveness had been demonstrated, the NIH-Department of Energy (NIH-DOE) (1) Working Group on Ethical, Legal, and Social Implications of Human Genome Research (ELSI) convened the Task Force on Genetic Testing in 1995. The ELSI Working Group asked the Task Force to review genetic testing in the United States and, when necessary, to make recommendations to ensure the development of safe and effective genetic tests. Part of the review was accomplished by the survey already mentioned. The Task Force defined safety and effectiveness "to encompass not only the validity and utility of genetic tests, but their delivery in laboratories of assured quality, and their appropriate use by healthcare providers and consumers" [Ref. (7), p. 4]. I will discuss these components, and the recommendations of the Task Force for ensuring safety and effectiveness of newly developed genetic tests.