to the editor: The “Medicine and Society” commentary by White, Callif-Daley and Donnelly titled, “Genetic Testing for Disease Susceptibility: Social, Ethical and Legal Issues for Family Physicians”1 barely scratches the surface of the three areas they address. With the rapid development of many potential gene therapies just on the horizon, all physicians will have major continuing medical education needs in the area of genetic diseases. The article hints at the development methodology of DNA transfer therapy whereby defective genomes are “replaced” by introducing nonnative DNA into a patient's cells. Family physicians need to learn about this rapidly developing field.
Gene therapies for several illnesses are under study for diseases (e.g., cystic fibrosis, Alzheimer's disease). The National Institutes of Health has prioritized the “top 100” genetic diseases for research, including many cancers. Another question is whether fetuses should be screened for the Huntington's chorea gene and aborted if the results are positive. Mixed patient reaction to this advance is illustrated by the fact that only 200 of the potential 150,000 affected persons have elected to be screened.2
The confidentiality issues related to data banks of genetic information are enormous. Informed consent is not really an individual decision any more. Other stakeholders may feel it is a family-wide issue. One potential for privacy abuse is illustrated by the military data bank collected for the purpose of avoiding “unknown soldiers.” Several groups are interested in the research potential for the genetic information in this large data bank of chromosomes collected on every military recruit. Once a person's DNA is stored, protection of that information is only part of the issue. Without consent, research with the actual genes themselves is a potential risk.
The discrimination based on genetic information could parallel what has happened with screening persons for human immunodeficiency virus (HIV). Also, the misuse of genetic information potentially places families and relatives at risk for a lifetime of health and life insurance denials—genetic risks that in many cases will never develop expression. Despite the Health Insurance Portability and Accountability Act of 1996, the potential for great pressure from financial concerns exists. Relatives in the genogram of the tested person will demand a right to know this confidential information for their own risk determination. Laws have been passed governing the patent and commercial profit potential from this research. Limitations on the “enhancement” uses of gene alteration have been suggested, and care is being taken to limit the risk of permanent alteration of the human germ cell pool, sometimes described by the term “slippery slope.” The risk of permanently introducing unintended alterations into the human germ cell line is a vitally important concern.
The authors of the article1 did not mention the Ethical, Legal and Social Issues of the Human Genome Project (ELSI Committee) at the National Institutes of Health.3 The release of information from this committee is a potential resource for new information involving developments with gene therapy. Family physicians should also be interested in the ethical limitations being placed on the use of governmental research funds for genetic enhancement. The issues raised here are only some examples of the explosion in ethical dilemmas we are about to face from the field of genetics.
in reply Dr. Williamson rightly points out that our article1 only “scratches the surface” of the social, ethical and legal issues involved in disease susceptibility testing. Physicians who wish their patients to pursue genetic testing need a far more substantial grasp of each of the concerns mentioned, as well as a solid understanding of the genetics of the disease in question. Moreover, our article only addresses disease susceptibility testing.
As Dr. Williamson notes, physicians should also be aware of the numerous social, ethical and legal concerns that accompany other aspects of medical genetics, including genetic screening, prenatal testing, genetic research, data banking, gene patenting and gene therapy. However, recent studies suggest that few practicing physicians have more than a rudimentary grasp of the role of genetics in disease causation,2,3 and that medical journals in some generalist fields may not be keeping pace with advances in genetic research.4 We wrote our article for these reasons, in hopes of furthering discussion of the emerging place of genetics in primary care.
The need for education has been recognized at the national level, where educational efforts include a Coalition of Health Professionals that has begun to develop initiatives for genetics education through web sites, conferences, curriculum development and the inclusion of genetics on board and licensure examinations.5 But until medical genetics is smoothly integrated into clinical practice, family physicians may best serve their patients by becoming familiar with the services provided by the genetics specialists in their areas.