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Human Genome News Archive Edition

Human Genome News, January 1993; 4(5)

DOE, NIH ELSI Grantees Evaluate Progress

NIH and DOE grantees and contractors addressing the ethical, legal, and social implications (ELSI) of human genome research met on September 14-16, 1992, along with the NIH-DOE ELSI Working Group. The purposes of the meeting, held halfway through the Human Genome Project's first 5-year period, were to evaluate progress, foster collaboration, and provide input for the future direction of the ELSI program.

Human Genome Project managers Elke Jordan [National Center for Human Genome Research (NCHGR)] and John Wooley and David Smith (both at the DOE Office of Health and Environmental Research) welcomed attendees in an initial plenary session. Sylvia Spengler (Lawrence Berkeley Laboratory) gave a brief overview of genome research, its methodologies, and recent scientific accomplishments from which both medical advances and difficult ethical and social choices will arise.

Francis Collins (University of Michigan Human Genome Center) discussed the clinical implications of the Human Genome Project, stressing the difficulty of systematically addressing ELSI issues while the science is itself a moving target. He noted that presymptomatic DNA diagnosis for genetic diseases will be widespread within several years and that development of options and systems for genetic services will require continued attention from both the biomedical and ELSI communities.

The wider importance of developing sound ethical policies related to genetics was underscored by Robert Gellman (U.S. House Committee on Government Operations staff), who spoke of the need to protect the privacy of genetic information. He cited credit reports and other personal information that are being used for direct marketing and other purposes beyond their original intent. The government operations committee, concerned that personal genetic data not be similarly abused, has called for a joint DOE-NIH advisory commission to develop policy for management of genetic information.

Nancy Wexler, chair of the working group, noted that because the accomplishments of the ELSI program cannot be measured with the same precision as genome science, ELSI grantees have a special responsibility for demonstrating that their funds are spent wisely.

Following the plenary session, investigators participated in one of four discussion panels organized according to the high-priority areas selected by the working group:

  • design and delivery of genetic services,
  • fairness in the use of genetic information,
  • privacy of genetic information, and
  • public and professional education.

In a fifth discussion session, the NIH Cystic Fibrosis (CF) Consortium discussed the full range of high-priority issues raised by the present-day example of CF. In all the panels, grantees were asked to describe their projects briefly and share preliminary conclusions or findings. Because the majority of ELSI grants were awarded within the last year, most presentations focused on research plans.

After reviewing the current portfolio, workshop participants identified several areas in which the need for additional high-quality projects would continue:

  • Client-Centered Assessments of New Genetic Services and Technologies. Attendees emphasized the need for qualitative studies of crosscultural and psychosocial factors in individual and family perception, experience, and reaction to new genetic services. They also recommended that the ELSI program obtain more input from people affected by genetic disorders, including parents of children with disabilities.
  • Education. Participants suggested that the ELSI program direct educational initiatives to elementary schools, where the curriculum is usually flexible and classes are often characterized by high levels of teacher and student enthusiasm. Two public television series on the impact of genetics on medicine and health are forthcoming, and curriculum development at the high school level has received much attention from the ELSI program. However, participants were concerned about the lack of large-scale educational initiatives for nonstudent populations, nonmedical professionals, and the millions who do not watch public television. Genetic services are available to people who may have little understanding of biology and genetics but who are exposed to symbols of genetic determinism in the media. Education is a significant component of any informed decision to use genetic services.
  • Interpreting Genetic Variation. Participants reemphasized the importance of exploring the ethical and social implications of new genetic information about human traits not related to disease. As genetic explanations are elaborated for these traits, new and different kinds of public and professional policy issues will be raised.

Informed Consent for Testing

Members of the 3-year NCHGR-sponsored CF consortium discussed issues raised by increased access to CF-carrier testing. In the first year, consortium members collaborated to develop educational materials, informed consent documents, and psychological assessment measures, which were critiqued by workshop participants. At issue were the extent to which CF study results could be generalized to other types of disorders and the challenge of obtaining informed consent for carrier testing. Participants questioned the ability to keep research test results confidential and also asked how researchers should determine and communicate the risk of insurance loss to a person identified as a CF carrier.

Communication

ELSI programs have facilitated communication among grantees who are focusing on common themes. For example, DOE has organized a collaboration of grantees and contractors studying issues of genetic privacy. Topics being addressed include ownership of genetic information, management of research records, military use of genetic data, storage of DNA samples, and the disposition of records and materials in DNA banks after a research program ends. Grantees are also researching the scope of protection afforded by state laws regarding genetics and privacy. In addition, principal investigators working on insurance issues are members of the DOE-NIH subcommittee's ELSI Task Force on Genetics and Insurance [see HGN 4(3), 5 (September 1992)].

This workshop helped to foster both formal and informal grantee collaborations by providing a forum for the exchange of materials and ideas. A postworkshop evaluation indicated that participants gained much insight from analyzing specific projects and issues in the work of their colleagues and in the larger arena of the Human Genome Project. Investigators said they would like to convene again in about 2 years, when the CF consortium will have concluded its studies, the insurance projects will have issued reports, and more empirical data will be available for analysis and contribution to the policymaking processes.


Contacts for ELSI program abstracts

  • NIH:
    Elinor Langfelder
    Fax: 301/402-1950
  • DOE:
    Daniel Drell
    Fax: 301/903-7363

Instructional Unit Sent to High School Biology Teachers


At the ELSI meeting, Joseph McInerney (Colorado College) announced that the DOE-funded instructional unit "Mapping and Sequencing the Human Genome: Science, Ethics, and Public Policy" was being sent to every U.S. high school biology teacher. [For more information on the module, see HGN 4(4), 9 (November 1992).]


Reported by Elinor Langfelder
NIH NCHGR

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Human Genome Program, U.S. Department of Energy, Human Genome News (v4n5).

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.