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Mapping and beyond.

Mapping and Beyond

Research into the genetic basis of human life has opened vast new possibilities in genetic medicine. In the future, diagnosis, prevention, and therapy might be routinely tailored to the unique genetic constitution of the individual instead of relying primarily on consideration of the individual case within a disease group. At present, international, collaborative efforts to map the human genome--that is, to identify and sequence the locus of every gene or every unit of DNA on every chromosome--dominate human genetics. The scale of the undertaking and its probable contribution to knowledge about human health make this attention understandable, as findings may contribute significantly to genetic screening, testing, and gene therapy. Anxiety has sometimes been voiced about the massive allocation of resources toward the mapping, the possibility of abuse through the intimate and private knowledge gained about individuals, and the potential for diminishing human beings to no more than a sequence of DNA base pairs. Specters of eugenics haunt the ethical consideration of such developments.

To help assure that advances in genetics are made in responsible ways that respect human dignity and human values, both in the research to generate the knowledge and in its applications, the Council for International Organizations of Medical Sciences (CIOMS) convened an international, interdisciplinary forum to consider the ethical, scientific, and social ramifications of the human genome project, genetic screening, and gene therapy. One hundred and twenty-three participants from thirty nations and from differing spiritual families debated these issues from 22 through 27 July 1990 in Japan, under the auspices of CIOMS, World Health Organization (WHO), United Nations Educational, Scientific and Cultural Organization (WHO), United Nations Educational, Scientific and Cultural Organization (UNESCO), and the Science Council of Japan. Participants represented many disciplines including medicine, science, law, health policy, and the humanities. They addressed both the conduct of human genome mapping and the appropriate use and safeguards for genetic information gained.

As noted by Alex Capron of the Law Center, University of Southern California, Los Angeles, and a co-chairman of the conference, all of the working groups moved quickly to pragmatic and programmatic examination of the issues, with little explicit discussion of ethical principles that would justify the conclusion drawn. This may have resulted in part from the difficulty of the scientific material and partly from a broad implicit common agreement on guiding principles that cut across cultural variation. The fundamental underlying principle for all recommendations and considerations of the conference was the protection of the dignity of the human beings involved, the enhancement of their ability to function as full human beings, and the assurance that all genetic interventions aim toward improving human and individual health. The objectives of other parties, including the state, the researcher, employers, and insurance companies, were viewed as subsidiary.

Given this underlying assumption, participants agreed that identification and delineation of all human genes has much to offer. They concluded that there is nothing inherently unethical in mapping the human genome. They also called for continued debate to determine the relative priority of competing demands among scientific and other activities and to ensure funding for genome research at an appropriate level in relation to other priorities. They agreed that international debate, fostered by HUGO, UNESCO, and CIOMS, should focus on the bioethical and social issues surrounding human genome mapping and its potential applications. They further resolved that all countries should benefit from the human genome project and participate in the social and ethical discussions, even though not all countries have the resources to conduct genome research and to develop new technology; developing nations may benefit particularly from the simple, rapid, and inexpensive identification of pathogenic organisms that molecular genetic techniques connected with genome mapping might yield.

Participants foresaw the human genome project leading to many diagnostic tests at the individual level, and screening for the presence or absence of genes or gene products at the population level. New abilities to clone and sequence genes without the need first to know the protein products greatly expands the possible scope for screening and diagnostic tests. As with existing tests, concern for individual welfare requires confidentiality of information and adequate genetic counseling. Participants suggested that principles for disclosure and for privacy--particularly at the familial level--in accords such as the Helsinki Declaration need clarification. They emphasized use of voluntary services addressing health concerns. Any genetic service program must pay attention to the interpersonal and sociocultural context in which individuals and families receive genetic information. Special care must be taken to convey an understanding of the difference between carrying a gene and having a genetic disease; further care must be taken to address the potential stigma of carrier status.

The conference discussed human gene therapy, which lies on the edge of clinical application and may provide a means to treat diseases with a genetic component. It may also bring useful therapeutic agents to effective sites for treatment of even nongenetic disorders. Participants accepted gene therapy for medical reasons (but not for cosmetic or enhancement reasons) as an innovative therapy that raises no fundamentally new moral issues. As for other new biomedical interventions, participants advised that alterations in somatic cells affecting only the DNA of the individuals treated should be carefully evaluated, by groups independent of the investigators, for both scientific merit and such social and ethical issues as patient selection, fair access, and informed consent.

Concurring with the MRC Guidelines for Research on Somatic Cell Gene Therapy in Humans, 1990, the workshop participants found gene therapy to be acceptable at this time for severely disabling conditions caused by single gene defects for which no effective current therapy exists. Once the safety and efficacy of genetic intervention is shown in such instances, gene therapy techniques may be more broadly applied. Participants recognized that inborn errors of metabolism affect particularly young children and drew special attention to the need to provide a mechanism for gene therapy and for preliminary nontherapeutic research in children. In general, the conclusions of the conference with respect to somatic cell therapy conform with the MRC guidelines.

The conference broke new ground in its insistence on keeping open the option of germ cell gene therapy. Such therapy could affect not only the individual treated but also future generations whose consent cannot be sought and whose best interest is difficult to determine. While technically more demanding than somatic cell therapy, germ line therapy could be of value in several clinical situations where somatic gene therapy would not be effective. Such instances might occur when multiple organs must be treated simultaneously, for example. Participants noted that germ cell therapy might someday prevent genetic disease entirely, rather than simply treat its effects. Participants emphasized the requirement for assurance of an extraordinarily high level of safety and effectiveness before germ line therapy could be considered in human beings. Germ cell gene therapy raises novel issues for scientific and ethical reflection. Special concerns are: (1) irreversibility, (2) the potential subordination of individual interests to the improvement of health in general, and (3) unexpected side effects from modification of genes that may confer unknown but significant benefits.

In all areas discussed--mapping, screening, and therapy--education and active interdisciplinary, transcultural dialogue were seen as essential companions to scientific advances. Bioethics training for those involved in genetics research and services was another common theme. While for the most part participants concluded that present genetic research and services do not raise novel issues, the accelerated rate of discovery and the special privacy issues intrinsic in genetic research demand high ethical sensitivity in the conduct and use of such research.
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Title Annotation:Council for International Organizations of Medical Sciences conference on the human genome project
Author:Miller, Judith
Publication:The Hastings Center Report
Date:Nov 1, 1990
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