Predicting Future Disease: Issues in the Development, Application, and Use of Tests for Genetic Disorders

The Institute of Medicine (IOM) through its Board on Health Sciences Policy established a panel of experts to evaluate issues in the development, application, and use of tests for genetic disorders. This two-year study is addressing a variety of issues presented by the rapid proliferation of genetic tests capable of predicting future disease in otherwise healthy individuals. It is also attempting to develop responsible approaches to resolving current and future problems presented by the rapid application of genetic tests. The study is focusing on the following areas: the availability of adequately trained personnel to administer and interpret tests; quality control and integrity in testing and approval for wide scale use of tests for single gene disorders; cost effectiveness of testing; access to test results, specifically by insurers; and the ethical dilemmas related to the issues of autonomy and privacy. One workshop on laboratory issues in human genetics was held in February 1992, and several additional workshops are planned for the remainder of 1992, with a public hearing scheduled for September 1992. Proceedings of these workshops and of the public hearing will be printed and disseminated. In addition, a comprehensive report including findings and recommendations will be delivered at the end of the study. (Co-funded with DOE)