Privacy and Health Research. Genetic Privacy [116]


As the newsmedia are constantly reminding us, the world has entered an entirely new era in genetics: The human genome is being mapped, incredibly sensitive and precise genetic tests have been developed, genetic screening has become commonplace, and an almost incredible array of genetic interventions is being explored.

But the world has by no means prepared itself to cope with the genetic-privacy issues that accompany the scientific advances.117 Genetic analyses and interventions have exceedingly sensitive attributes:

  • They broadly relate to health, to qualities of life, and to sense of fairness in the lottery of birth and treatment of the disadvantaged.
  • They relate to race, ethnicity, and parentage.
  • They relate to gender (and maybe to sexuality).
  • They relate to mental competencies and tendencies, and to behavioral predispositions.
  • They have relevance for descendants, and therefore possibly to reproductive choices.

So, are genetic data fundamentally different from other health data? One is tempted, for the reasons above and others, to think, Yes, of course: They can be very precise and determinative on core aspects of life and health, and they affect family and other relations. On reflection, though, the answer becomes, No, not really: Countless other health data can be precise and determinative (and besides, often genetic risk factors are just risk factors among others); and many kinds of health data have implications for family and other relations.

Until recently, genetic analyses mainly were able to identify the presence of genes which strongly determine diseases, such as cystic fibrosis, Tay-Sachs disease, and sickle cell trait. Some 5,000 such conditions are now known. What is changing rapidly now is that we are becoming able to identify genetic factors that increase disease risk but are not uniquely the determinants of disease—genes that relate to obesity, for instance, and some kinds of breast, prostate, and colon cancer, and susceptibility to alcoholism. We are learning more about genetic contributions to diabetes, and heart disease. It may well not be evident what genetic data imply for the person's health, or what interventions or other responses might be reasonable. The information can be very unsettling. Knowing this kind of genetic information may or may not be helpful or comforting.118

To take a poignant example, tests can determine, before she is born, that a girl has inherited the BRCA-1 and -2 genes, which predispose to breast cancer. But what should her parents be told and advised to do, and what and when should the girl be told, and how should she be protected against discrimination, and how can she be helped to minimize her risk? For many genetic conditions, of course, steps can be taken to minimize the health risk, such as by attending carefully to diet or other aspects of lifestyle, and monitoring for expression of the disease.

A special aspect of genetic privacy is that genetic data may relate not only to the data- subject but to blood relatives. Who must consent, then, before tests are performed, or before the results are revealed? Who must be informed that a test is being made, and who informed of the findings? As long-term genetic registries become established, who should have consent and other rights with respect to the data, given that the data will pertain to other members of the family, both present and future?

As an area of medicine and public-health practice, so much of the new genetics work is so innovative that for many purposes it must be considered "research."

Obviously genetic data can be used prejudicially against people's interests, such as eligibility for employment, financial credit, or health or life insurance. Should judgments based on genetic data be made at all? Should they be based on genetic testing data alone, or on family history or medical examination, or on actual expression of the genes as illness? How should people having a genetic makeup predisposing to disease, but who do not yet show symptoms, be treated?119,120

A special, difficult issue for research is how to deal with research on stored tissue samples, such as blood samples, biopsied tumor or other pathology materials, semen, and other human tissues that contain nucleated cells. Large numbers of samples are saved as part of research. In some instances a future research need is specifically anticipated. In others, tissues are saved because so often in science, needs arise later that simply could not have been foreseen. Scientists save specimens; it is part of the culture. Even larger numbers of samples, of course, are stored in blood banks and other collections. Identifiability, consent, and disclosure are the core issues.121,122

Developing ethical guidance over genetic privacy is crucial to the future of both basic genetic research and applied genetics.123,124,125 Because genetic science is becoming more deeply integrated with other kinds of biomedical knowledge, genetic ethics must be integrated with basic biomedical ethics and not developed entirely separately.

(116) Recent critical discussions include George J. Annas and Sherman Elias, Gene Mapping: Using Law and Ethics as Guides (Oxford University Press, New York and Oxford, 1992); Theresa Marteau and Martin Richards, editors, The Troubled Helix: Social and Psychological Implications of the New Human Genetics (Cambridge University Press, Cambridge, 1996); Thomas H. Murray, Mark A. Rothstein, and Robert F. Murray, Jr., editors, The Human Genome Project and the Future of Health Care (Indiana University Press, Bloomington and Indianapolis, 1996); and Philip R. Reilly, Mark F. Boshar, and Steven H. Holtzman, "Ethical Issues in genetic research: Disclosure and informed consent,"Nature Genetics 15, 16–20 (1997).

(117) A general resource is the program on Ethical, Legal, and Social Implications of the Human Genome Project, of the U.S. National Human Genome Research Institute; the NHGRI's home page on the Internet is < http://www. >. Another resource is the "Bibliography on Bioethics" maintained by the National Center for Genome Resources, available on the Internet at < >.

(118) For some such situations the words of Ecclesiastes (I:18) may not be too extreme: "He that increaseth knowledge increaseth sorrow."Mak'óbâh, "mental anguish."

(119) Kathy L. Hudson, Karen H. Rothenburg, Lori B. Andrews, Mary Jo Ellis Kahn, and Francis S. Collins, "Genetic discrimination and health insurance: An urgent need for reform," Science 270, 391–393 (1995).

(120) Michael S. Yesley, "Genetic privacy, discrimination and social policy: Challenges and dilemmas," Microbial and Comparative Genetics(April 1997).

(121) Peter S. Harper, "Research samples from families with genetic diseases: A proposed code of conduct," British Medical Journal 306, 1391–1394 (1993).

(122) Ellen Wright Clayton, Karen K. Steinberg, Muin J. Khoury, Elizabeth Thomson, Lori Andrews, Mary Jo Ellis Kahn, Loretta M. Kopelman, and Joan O. Weiss, "Informed consent for genetic research on stored tissue samples,"Journal of the American Medical Association 274, 1786–1792 (1995). A related commentary is: Bartha Maria Knoppers and Claude M. Laberge, "Research and stored samples: Persons as sources, samples as persons?" Journal of the American Medical Association 274, 1806–1807 (1995).

(123) In 1996 the Parliamentary Assembly of the Council of Europe adopted a " Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine," Dir/Jur (96) 7(Strasbourg, June 1996). While dealing with many issues such as research-subject consent, the human genome, and organ transplantation, the Convention reaffirms in passing (in Article 10) that "everyone has the right to respect for private life in relation to information about his or her health"; but it does not elaborate.

(124) Mark A. Rothstein, editor, Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era (Yale University Press, New Haven, forthcoming 1997).

(125) A volume being prepared under the auspices of the Ethical, Legal, and Social Implications program of the U.S. National Human Genome Research Institute and the U.S. Department of Energy is Alan F. Westin, editor, The Social Sciences, Privacy, and Genetic Information (forthcoming, Columbia University Press, New York, early 1998).