Advances in human genetics have already yielded valuable information on the causes of many diseases, but as speakers at last weekend's Human Genome Project Conference noted, work in this field also poses ethical questions and potential risks for employment discrimination, difficulty in obtaining insurance and loss of privacy.
Doctors, scientists and others addressed students who had come to MIT for the Nov. 11-12 conference, which was organized by Student Pugwash USA, an organization founded in 1957 to encourage young people to solve global problems through the responsible use of science and technology and to consider the social and ethical implications of scientific work.
The Human Genome Project, a federally funded endeavor to identify and map all human genes, has resulted in the ability to diagnose or detect predispositions in people for a variety of conditions, including Huntington's disease and some forms of cancer. However, there is "an uncomfortable interregnum" between science's ability to diagnose an illness and to develop an effective treatment for it, said Dr. Charles Cantor, professor of biomedical engineering at Harvard's College of Engineering and professor of pharmacology at Harvard Medical School. He was also the principal scientist on the Human Genome Project while on the faculty at the University of California, Berkeley.
Other difficulties arising from genetic advances include fears about getting sick, being stigmatized or suffering discrimination in obtaining employment or insurance (see accompanying story) in people whose genes show they are at risk for developing a genetic disease, Dr. Cantor said. There is also the specter of eugenics, or the use of genetic information to improve the gene pool by culling those who are deemed genetically defective.
Until the political upheavals of the 1960s, scientists had traditionally taken little part in trying to control the applications of their research, leaving the debate to ethicists, sociologists and others, said Dr. Jonathan Beckwith, professor of microbiology and molecular genetics at Harvard Medical School and a member of the Working Group on Ethical, Legal and Social Implications of the Human Genome Project. While scientists are more involved than they once were, the culture of science still needs readjusting, he said. "There is still not a supportive culture for scientists to spend significant amounts of their efforts to deal with the social implications" of their work. "In many if not most scientific environments, social activism is still considered a negative."
As more and more genetic markers for traits are found, the public and policy-makers may develop an attitude that genetics holds the key not only to controlling disease, but to curing social problems and even to explaining "why people occupy different situations in society," Dr. Beckwith said. Genetic information therefore needs to be discussed and understood clearly, he added. "While geneticists should by no means be making policy in these areas, they have a very important role to play in explaining the issues to the public and correcting misconceptions that are communicated to the public."
Specific information about an individual's genetic traits as it pertains to their health often comes from the growing ranks of genetic counselors, who can arrange for screening of genetic disorders for people concerned about developing a heritable illness or passing it on to their children. Counselors must consider the issues of privacy and the implications of the genetic information they discuss with clients every day, noted Dr. Susan Pauker in her talk entitled "The HGP and the Physician/Patient Relationship." Dr. Pauker is chief of medical genetics at Harvard Community Health Plan and director of the genetic clinic at Massachusetts General Hospital.
Genetic counselors screen people at risk for developing a genetic disease (encouraging preventive measures where possible), and provide clients with information they need to help them make decisions about pregnancies, Dr. Pauker explained. "If you think genetic counseling is about abortions, I can guarantee you that most of the time it is not," she said, adding that many couples elect to carry fetuses to term even when they learn that the child is likely to have a birth defect.
Among the ethically problematic situations that counselors may encounter are cases where testing inadvertently shows that the husband of a pregnant woman is not the child's father, or where someone who is an identical twin decides to get tested for a genetic disease-acquiring information that would also apply to his or her sibling, who may or may not want to know about it, Dr. Pauker said.
Other concerns faced by doctors and their patients are the costs of testing, maintaining confidentiality in the face of the growing prevalence of such testing, and the issue of "who speaks for the fetus," Dr. Pauker said. Parents usually control the fate of their unborn children, "but what if the father speaks differently from the mother?"
Although most would argue that coercive Nazi-style eugenics policies are a highly unlikely future result of genetic knowledge, more subtle pressures are already present, said Dr. Diane Paul, professor of political science and co-director of the Program in Science, Technology and Values at the University of Massachusetts, Boston. Such factors as anxiety over the cost and labor of caring for a child with a genetic disorder or worries over losing insurance often contribute to decisions, she said.
"Reproductive choice is a mirage," Dr. Paul said in a panel on genetic information and reproductive rights. "There has never been such a thing as an individual whose desires, needs, feelings and actions are not affected by their families, community and society."
Some people already practice a form of eugenics, speakers noted. Since amniocentesis reveals the gender of a fetus as well as the presence of conditions such as Down's syndrome, people who want a girl may abort a fetus revealed to be a boy, or vice versa.
Complicating the patients' decision-making process is the fact that many people do not understand the principles of probability (the relative likelihood that they or their child will be affected by a genetic defect), said panelist Barbara Biesecker, a genetic counselor and section head in the medical genetics branch of the National Institutes of Health's National Center for Human Genome Research. People tend to base judgments on their perceptions of the burden of a disease rather than on the risk itself, she said. "The idea that people make rational decisions based on the understanding of precise risk is ludicrous."
A version of this
article appeared in the
November 16, 1994
issue of MIT Tech Talk (Volume