pp. 40-41 in Intractable Neurological Disorders, Human Genome Research and Society. Proceedings of the Third International Bioethics Seminar in Fukui, 19-21 November, 1993.

Editors: Norio Fujiki, M.D. & Darryl R.J. Macer, Ph.D.

Copyright 1994, Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with Eubios Ethics Institute.

Thoughts concerning societal, legal and ethical ramifications of the human genome project

Victor A. Mckusick
University Professor of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

The earliest, and thus far the most significant, benefit from the Human Genome Project is in medicine. The Human Genome Project is providing detailed information on the constitution of the human genome. Beyond that it has the potential of providing the technical means of ascertaining that information quickly and accurately in individuals. Mutations that are related to specific Mendelian disorders or polymorphisms that are associated with increased risk of particular multifactorial disorders will be identifiable by these techniques.

I would like to point to two general types of problems in the ethical, legal and societal domain raised by the information and technologic advances coming out of the human genome project. In the first place, information on disease from the Human Genome Project is likely to increase the gap between what we can diagnose in the presymptomatic stages and what we can treat. The Huntington disease experience was a case in point. Another more recent example is apolipoprotein e4 and Alzheimer disease. In all such instances, of course, the hope is that in the long run new knowledge of causation and pathogenesis will point to effective prophylaxis or treatment. However, in the interval problems may arise.

A second possible effect of studies of the human genome is a widening of the gap between what we think we know and what we really know. Here I refer to the likelihood that associations will be found between particular genomic constitutions and susceptibilities to ailments such as cancer, mental illness, cardiovascular disease and as well as associations with characteristics such as criminality, impaired intellect, alcoholism or other addictions, sexual preference, and so on. Some of these associations will undoubtedly prove to be invalid. Other associations, although statistically valid, will be weak, and the risk is that their importance will be exaggerated out of all proper proportion, to the great disadvantage of individuals and of particular ethnic groups. The concern is that genomic information, which should be private and confidential, will be misused in relation to employment, insurance, credit rating, educational opportunities, and many other spheres, including perhaps the political. How much information, for example, will the electorate be entitled to on the genome of candidates for high office?

I will not speak in detail about the risks of reductionism: the notion that when the last nucleotide has been sequenced we will know all it means to be human or determinism: that an inevitable and direct relationship exist between genomic constitution and what each of us is or is capable of being.

The widening gap between what we think we know and what we really know relates particularly to human genomic diversity, which is the basis of the field of genetic epidemiology. Identification of valid associations in genetic epidemiologic studies depends critically on knowledge of the genomic diversity of the population under study.

The Human Genome Project is providing a source book for biology and medicine. By the year 2005, or sooner perhaps, all 50,000 or more genes will have been cloned and positioned in the genome and the entirety of the genome will have been sequenced. We will still not know, however, the function of all those genes in isolation let alone in concert; and particularly will not know the variation in the genes and the genome in general among the 6-7 billion persons who will inhabit this globe by that time. Furthermore, we will not know the relation between variation in genomic constitution and variation in function.

As a basis for genetic epidemiology and for study in other areas, HUGO is actively discussing the sponsorship of studies of human diversity. Former president Sir Walter Bodmer appointed an ad hoc committee to review the matter. HUGO held a useful meeting in Sardinia earlier this year. The question has been raised whether a population DNA bank should be created. This would be a bank of properly representative DNAs from populations all over the world, in a form that could provide an inexhaustible supply of material. It would be a bank that would do for population genetics what CEPH does so well for family linkage studies. Potential ethical, legal and societal problems of such an undertaking, including informed consent and preservation of confidentiality, are not inconsiderable and deserve study by the Ethics Committee of HUGO. These are certainly problems of global international significance appropriate for consideration by HUGO. Independent sources of funding may be available for these studies of human genomic diversity, thus avoiding competition for funding of the primary mapping and sequencing goals of the Human Genome Project.

There is, of course, tremendous variability in the human genome. There is no one normal, ideal or model genome. It appears to be difficult for many people, perhaps a majority of people, to appreciate the great range of human diversity, that diversity being even greater within so-called racial groups than between racial groups. It is even harder for a majority to appreciate human diversity without attaching value judgments to differences. Genetic diversity is the strength of the species.

To avoid many of the ELSI-type problems that could arise out of the Human Genome Project, three measures should be adopted: These are education, education and education. I was impressed with the 8 part TV series The Secret of Life which laid out much of the significance of genetic variation and its relation to society and to medicine. Largely responsible for it was David Suzuki, Canadian geneticist of Japanese extraction; it was supported in part by the National Center for Human Genome Research of the NIH.

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