To Know Ourselves: Ethical, Legal, and Social Implications

An Essential Dimension of Genome Research

The Human Genome Project is rich with promise, but also fraught with social implications. We expect to learn the underlying causes of thousands of genetic diseases, including sickle cell anemia, Tay-Sachs disease, Huntington disease, myotonic dystrophy, cystic fibrosis, and many forms of cancer -- and thus to predict the likelihood of their occurrence in any individual. Likewise, genetic information might be used to predict sensitivities to various industrial or environmental agents. The dangers of misuse and the potential threats to personal privacy are not to be taken lightly.

In recognition of these important issues, both the DOE and the National Institutes of Health devote a portion of their resources to studies of the ethical, legal, and social implications (ELSI) of human genome research. Perhaps the most critical of social issues are the questions of privacy and fair use of genetic information. Most observers agree that personal knowledge of genetic susceptibility can be expected to serve us well, opening the door to more accurate diagnoses, preventive intervention, intensified screening, lifestyle changes, and early and effective treatment. But such knowledge has another side, too: the risk of anxiety, unwelcome changes in personal relationships, and the danger of stigmatization. Consider, for example, the impact of information that is likely to be incomplete and indeterminate (say, an indication of a 25 percent increase in the risk of cancer). And further, if handled carelessly, genetic information could threaten us with discrimination by potential employers and insurers. Other issues are perhaps less immediate than these personal concerns, but they are no less challenging. How, for example, are the "products" of the Human Genome Project to be patented and commercialized? How are the judicial, medical, and educational communities -- not to mention the public at large -- to be effectively educated about genetic research and its implications?

To confront all these issues, the NIH-DOE Joint Working Group on Ethical, Legal, and Social Implications of Human Genome Research was created in 1990 to coordinate ELSI policy and research between the two agencies. One focus of DOE activity has been to foster educational programs aimed both at private citizens and at policy-makers and educators. Fruits of these efforts include radio and television documentaries, high school curricula and other educational material, and science museum displays. In addition, the DOE has concentrated on issues associated with privacy and the confidentiality of genetic information, on workplace and commercialization issues (especially screening for susceptibilities to environmental or workplace agents), and on the implications of research findings regarding the interactions among multiple genes and environmental influences.

Whereas the issues raised by modern genome research are among the most challenging we face, they are not unprecedented. Issues of privacy, knotty questions of how knowledge is to be commercialized, problems of dealing with probabilistic risks, and the imperatives of education have all been confronted before. As usual, defensible perspectives and reasonable arguments, even precious rights, exist on opposing sides of every issue. It is a balance that must be sought. Accordingly, further study is needed, as well as continuing efforts to promote public awareness and understanding, as we strive to define policies for the intelligent use of the profound knowledge we seek about ourselves.

The Age of Discovery was the age of da Gama, Columbus, and Magellan, an era when European civilization reached out to the Far East and thus filled many of the voids in its map of the world. But in a larger sense, we have never ceased from our exploration and discovery. Science has been unstinting over the ages in its efforts to complete our intellectual picture of the universe. In this century, our explorations have extended from the subatomic to the cosmic, as we have mapped the heavens to their farthest reaches and charted the properties of the most fleeting elementary particles. Nor have we neglected to look inward, seeking, as it were, to define the topography of the human body. Beginning with the first modern anatomical studies in the sixteenth century, we have added dramatically to our picture of human anatomy, physiology, and biochemistry. The Human Genome Project is thus the next stage in an epic voyage of discovery -- a voyage that will bring us to a profound understanding of human biology.

In an important way, though, the genome project is very different from many of our exploratory adventures. It is spurred by a conviction of practical value, a certainty that human benefits will follow in the wake of success. The product of the Human Genome Project will be an enormously rich biological database, the key to tracking down every human gene -- and thus to unveiling, and eventually to subverting, the causes of thousands of human diseases. The sequence of our genome will ultimately allow us to unlock the secrets of life's processes, the biochemical underpinnings of our senses and our memory, our development and our aging, our similarities and our differences.

It has further been said that the Human Genome Project is guaranteed to succeed: Its goal is nothing more assuming than a sequence of three billion characters. And we have a very good idea of how to read those characters. Unlike perilous voyages or searches for unknown subatomic particles, this venture is assured of its goal. But beyond a detailed picture of human DNA, no one can predict the form success will take. The genome project itself offers no promises of cancer cures or quick fixes for Alzheimer's disease, no detailed understanding of genius or schizophrenia. But if we are ever to uncover the mysteries of carcinogenesis, if we are ever to know how biochemistry contributes to mental illness and dementia, if we ever hope to really understand the processes of growth and development, we must first have a detailed map of the genetic landscape. That's what the Human Genome Project promises. In a way, it's a rather prosaic step, but what lies beyond is breathtaking.

To Know Ourselves was prepared at the request of the U.S. Department of Energy, Office of Health and Environmental Research, as an overview of the Human Genome Project.