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Human Genome News Archive Edition

Human Genome News, May 1992; 4(1)

Agencies Hear ELSI Working Group Priorities

The NIH-DOE Joint Working Group on the Ethical, Legal, and Social Issues (ELSI) related to data generated by the Human Genome Project met in Washington, D.C., on February 10 to advise the agencies' ELSI program staff on priorities for program initiatives. Topics considered were (1) testing and counseling for p53 mutations, (2) guidelines for pedigree research, (3) the psychosocial impact of prenatal testing on women, and (4) public and professional education. Experts in each area were invited to participate in the discussion.

Frederick Li (Dana-Farber Cancer Center) provided background on testing for mutations in the p53 gene, which has been associated with several types of cancer. Predictive testing of healthy members of p53 cancer families would help determine their risk of developing cancer, while testing cancer patients for the p53 gene mutation would inform family members of a possible hereditary component of the cancer.

Li reported that a conference jointly sponsored by the National Cancer Institute and the NIH National Center for Human Genome Research (NCHGR) had recommended that testing be limited to relatives of known p53 cancer patients and confined to a research setting until specific, accurate, and sensitive tests are developed. ELSI working group members suggested to NCHGR staff that a request for applications (RFA) be developed to address issues in p53 testing on adults.

The working group discussed the necessity for a coordinated effort to develop guidelines for investigators involved in pedigree research. Dorene Markel, Director of the Family Studies Core at the University of Michigan Human Genome Center, described considerations in attempts to pinpoint the breast cancer mutation: (1) protection of the confidentiality of subjects, (2) appropriateness of releasing preliminary data, and (3) suitable mechanisms for contact and subject recruitment.

NCHGR has also funded an American Association for the Advancement of Science conference to discuss this issue and begin developing guidelines for institutional review boards or NIH study sections to use in evaluating the protection of human subjects involved in large family studies. NCHGR and the NIH Office of Protection from Research Risks will hold a workshop this year to continue this discussion.

In November 1991, NCHGR sponsored an agenda-setting conference that enumerated issues requiring further research and consideration. Karen Rothenberg (University of Maryland School of Law), cochair of the conference, informed the working group of suggested strategies for addressing research gaps. These strategies include (1) reframing the discussion of prenatal diagnosis in terms of preserving reproductive health rather than reducing the number of children born with chromosomal abnormalities; (2) determining whether prenatal testing will be made available, accessible, or mandatory for women; (3) ensuring that counselors are equipped to address scientific and psychosocial value-sensitive issues; (4) defining whether the goal of prenatal testing is to get consent or to allow women to make a decision; (5) informing women of the ethical, legal, and social issues involved in prenatal testing; and (6) eliminating communication and language barriers between the biomedical and disabled communities. Working group members agreed that prenatal testing and diagnosis is an important area requiring further attention and research and recommended that staff develop an RFA to address these issues.

NIH and DOE ELSI staff presented the scope of education projects being funded by the two programs, including curriculum development, training of science teachers, public broadcasting, and public discussions. The working group advised NIH and DOE ELSI staff to follow up the March 1991 NCHGR workshop with a similar meeting to set an agenda for the solicitation of quality education projects. The group also concurred that education issues continue to receive prominent billing in the NIH and DOE regular program funding announcements.

Progress of the Insurance Task Force and Privacy initiatives was also discussed. The Privacy Initiative is led by DOE Human Genome Program staff, who recently issued the FY 1993 DOE ELSI program announcement, which has a focus on privacy of genetic information [see Fed. Reg. 57(78), 14710 (April 22, 1992)]. DOE is contracting for a series of commissioned papers on privacy issues to complement the grant projects. The papers are expected to be completed and distributed within 1 year.

The ELSI working group will meet with NIH and DOE ELSI grantees on September 14-16 in Washington, D.C.


Reported by Elinor Langfelder, ELSI Program, NIH, NCHGR

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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.