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Human Genome News Archive Edition

Human Genome News, November 1993: 5(4)

IOM Issues Report on Genetic Testing

On November 4, the Committee on Assessing Genetic Risks of the Institute of Medicine (IOM) of the National Academy of Sciences released its report on a study of a variety of issues raised by the rapid proliferation of genetic tests. Designed to produce policy options on urgent issues, the report was commissioned in 1990 as one of several proactive initiatives of the NIH-DOE ELSI component of the U.S. Human Genome Project. The 24-month study, cosponsored by the L. Markey Trust and chaired by Arno Motulsky (University of Washington, Seattle), was carried out by a panel of experts in human genetics, law, health education, economics, ethics, medicine, insurance, psychology, and regulation. Jane Fullarton (now at Tascon) was staff director of the project.

In the report, the committee attempted to set down broad guidelines and policy principles to guide the development and use of genetic tests. They pointed out that genetic testing is already used or may be used in newborn screening, prenatal testing, genetic carrier testing, medical diagnosis, and presymptomatic or predictive testing. Predictive testing, which is likely to have major impact, raises new problems because of the ability to identify individuals at risk long before they develop symptoms. The committee expressed concern about commercial pressures urging premature introduction of presymptomatic tests and recommended that pilot studies be carried out before certain types of tests are used routinely.

The committee recommended that genetic testing should be voluntary and that the individual should decide what to do with the genetic information, all forms of which should be confidential and not disclosed without the person's consent. All organizations that generate or maintain genetic information or samples should have established procedures for protecting confidentiality.

The committee strongly supported nondirective counseling and felt that appropriate medical options should be given only after a full discussion of the medical and social consequences of genetic information, including its possible impact on employment and health insurance. The panel also favored legislation to prohibit possible discrimination in health insurance and employment. Specific recommendations covered a wide variety of circumstances, including the following:

  • Informed consent is not merely signing a form but a process of education and the opportunity to have questions answered.
  • As more tests for different diseases are bundled and performed together, multiple genetic traits can be detected in an individual. Such multiplex tests should be grouped into categories that raise similar problems of informed consent, for example, treatable vs untreatable and early-onset vs late-onset conditions. Each group of tests should be administered separately and at different times of life.
  • More public education and much more intensive coverage of genetics in schools at all levels are critical.
  • Genetic tests must be accurate, effective, and interpreted with close to ''zero-error'' tolerance. The highest standards must be applied to new genetic tests and to laboratories performing tests.
  • Private and public health plans, geneticists, and consumers must work together to develop guidelines for reimbursement for appropriate genetic services, which should also be incorporated into health-care reform plans.
  • A broadly representative national advisory committee, aided by an expert working group on genetic testing, should be established to set standards for genetic tests and policies for the use of new tests in medical practice.
  • Significant gaps exist in data on current genetic testing and screening. More information is needed to make appropriate decisions in this area.

Prepublication copies of the report Assessing Genetic Risks: Implications for Health and Social Policy are available from the National Academy Press at 2101 Counstitution Avenue, NW; Washington, DC 20418 (202/334-3313 or 800/624-6242).

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