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Human Genome News Archive Edition

Human Genome News, January 1994; 5(5)

NIH Identifying Research Areas for Testing, Counseling for Heritable Cancer Risk

The NIH National Center for Human Genome Research (NCHGR) held a workshop on October 28, 1993, to gather information and advice on the delivery of genetic testing and counseling for heritable cancer risks. Attendees were asked for their views on research questions that need to be addressed, studies for answering these questions, and evaluation of alternative testing and counseling protocols. Participants included representatives from the genome science and social and behavioral sciences communities, as well as service providers and consumers.

Research Needs and Recommendations
Genetic tests are now becoming available to identify members of families with heritable cancers who have an increased risk of developing cancer. Participants agreed that as this testing becomes feasible for a much wider population, well-designed clinical protocols are urgently needed to ensure that the tests are responsibly integrated into clinical practice. To guide protocol development, better information should be gathered about different approaches to pre-test and post-test education and counseling; management of test results; and the psychosocial, behavioral, and clinical impact of genetic testing in high-risk families.

Attendees agreed that the optimal approach would be to focus on genetic linkage or direct DNA-mutation testing for alleles associated with heritable breast, ovarian, and colon cancers. They also recommended that NIH develop a consortium of studies, each addressing a subset of the overall research agenda in cooperation with the others. This approach would allow for the possible standardization of evaluation tools, laboratory quality control, and protection of human subjects, as well as more-reliable comparisons between studies. Participants felt that initiatives should be interdisciplinary and that qualitative, ethnographic approaches should be encouraged to assess family dynamics and psychosocial impact. Surveys and a policy analysis of provider and public attitudes about genetic testing for cancer risk should be conducted.

Applicants will need to detail plans for protecting the rights and interests of individuals and families involved in clinical testing.

High-Priority Research Questions
The goal of these studies would be to identify clinical practices that best increase individual and provider understanding of genetic testing, the meaning and implications of test results, and strategies for promoting health and preventing the development of cancer. Equally important is reducing the risk for test-related psychological harm, stigmatization, and discrimination in tested individuals and families.

Workshop participants identified important research areas, including the following:

  • Identification and readiness assessment of individuals most likely to benefit from testing.
  • Optimum strategies for educating the individual and the public.
  • Informed consent issues.
  • Examination of diverse models for delivering testing and counseling services.
  • Identification and evaluation of post-test counseling and follow-up.
  • Psychological impact of test results on individuals.
  • Effect of test results on relationships with health professionals and insurance companies.
  • Health behavior of family members who decide against testing.
  • Attitudes, levels of understanding, and interest in genetic testing among providers and individuals and families of diverse ethnocultural backgrounds.
  • Economic impact of testing strategies, including health-care costs related to early detection and intervention.

The RFA resulting from these discussions was released February 4 by NCHGR. Contact:
Elizabeth Thomson or Eric Juengst, 301/402-4997, Fax: /480-2770, Internet:


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Human Genome Program, U.S. Department of Energy, Human Genome News (v5n5).

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.