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Human Genome News Archive Edition

Human Genome News, November 1990; 2(4)

ELSI Working Group Targets Research, Policy Development Needs

The NIH-DOE Working Group on Ethical, Legal, and Social Issues (ELSI) related to data generated by the Human Genome Project held a workshop September 10-11 in Rockville, Maryland, to discuss research and policy development needs concerning the introduction of new genetic tests into clinical practice.

At its last meeting in February, the ELSI working group gave this topic high priority for NIH and DOE programs. They also identified several sets of professional and social policy issues whose impact will be significantly broadened by the expected acceleration of genetic test development and the increased number of people likely to become candidates for testing.

These issues include quality control of test development and performance, professional responsibilities of clinicians conducting tests, the psychological impact of genetic testing on patients and family members, confidentiality of and access to test results by third parties, and the cost of testing and counseling.

The working group sought to gain more information about these questions by focusing on the recently developed test for the cystic fibrosis (CF) gene. This test provides an important example because of the gene's relatively high frequency in the population and the clinical variability of CF. Protocols for integration of the CF test into medical practice could set important precedents for future genetic test development and use.

To identify research and policy development needs, the ELSI working group invited perspectives on the evolution of CF testing from several groups, including:

  • scientists and clinicians involved with developing and evaluating the CF test;
  • representatives of at-risk families; and
  • experts on the ethical, legal, and social dimensions of genetic testing.

A session was devoted to a review of CF detection and to reports on trial CF testing programs in the United Kingdom and Denmark. Another session identified research and policy needs revealed by experience to date. The working group then met with members of NIH and DOE staff to discuss plans for implementing ideas raised at the workshop.

Identified research and policy development needs include:

  • Studies to assess the psychosocial impact of testing (including risk perceptions among low- and high-risk populations and across ethnic or socioeconomic groups), outcome studies, and cost assessments.
  • Analyses of mechanisms for ensuring quality control of tests performed and interpreted at different sites.
  • Assessments of alternative professional qualifications necessary for performing and interpreting various genetic tests.
  • Analyses to define standards for education before and counseling after the different diagnostic tests as they become available.
  • Studies of insurance industry practices with respect to reimbursement for tests and the use of tests in underwriting policies.
  • Comparative evaluations of confidentiality practices and policies adopted by existing genetic testing programs.
  • Comparative assessments of the medical and community approaches to testing.

For further information about the ELSI workshop, contact:

  • Eric T. Juengst
    Ethical, Legal, and Social Implications Program
    NIH National Center for Human Genome Research
    Bethesda, MD 20892
    (301) 496-7531, FTS 496-7531, Fax: (301) 402-0837

HGMIS Staff

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Human Genome Program, U.S. Department of Energy, Human Genome News (v2n4).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.