Ethics and genetics: an international survey.

Ethics and Genetics: An International Survey A first step toward resolving ethical problems in medicine is to discover how clinicians approach these problems in practice. In a rapidly evolving specialty like medical genetics, most of whose practitioners have entered the field within the last fifteen years, geneticists' own views should provide a starting-point for discussion. Yet such data are rarely gathered on a systematic basis. To provide a more solid basis for informed discussion, in 1985-86 we undertook a survey of responses to ethical dilemmas by medical geneticists in nineteen nations. Geneticists approached in fieldwork identified six types of ethical problems encountered in practice: (1) the duty to protect patient confidentiality versus the duty to warn innocent third parties of genetic harm; (2) full disclosure of sensitive information to patients; (3) full disclosure of test results; (4) directive versus nondirective counseling; (5) requests for prenatal diagnosis without medical indications; and (6) mandatory versus voluntary screening and third-party access to results. Our survey questionaires, distributed by a geneticist colleague in each nation, included fourteen clinical cases based on these problems, and four questions on screening. Respondents were asked what they would do, from a list of possible courses of action, and why, in their own words, they would do this. They were also asked which cases they found most and least difficult.[1] Patient Confidentiality and Duties to Warn Third Parties Three cases exemplify this dilemma. In the first, a patient diagnosed with Huntington disease (HD) refuses to tell his or her siblings or children about the diagnosis. HD is an autosomal dominant disorder, which means that each of these persons is at 50 percent risk of developing it. It is fatal, irreversible, and leaves its victims mentally and physically incapacitated for years before death. The knowledge that a parent or sibling has it, and that therefore they themselves are at 50 percent risk, would not prevent relatives from developing the disease, but would help them to plan their lives and their families, and could prevent transmission of the disorder to the next generation. On the other hand, breaching the patient's confidentiality contravenes a long-respected tradition in medicine, could irreparably harm the doctor-patient relationship, and might discourage future patients from visiting geneticists. There was no consensus about this dilemma: 32 percent would preserve the patient's confidentiality, 34 percent would tell the relatives if they asked, 24 percent would tell the relatives even if they did not ask, and 10 percent would refer the matter to the family physician. In Greece, where few would disclose, clinical experience with HD is very rare. Geneticists in nine nations (Australia, Canada, Denmark, France, GDR, Hungary, Italy, Norway, and Turkey) found this the most difficult of the fourteen cases. Those who would preserve confidentiality cited respect for patient autonomy in their reasoning, while those who would disclose cited avoidance of harm. Some said that when HD became diagnosable prenatally or pre-symptomatically (not a reality in 1985, but now possible through DNA testing) they would be more inclined to tell the relatives, because the knowledge would offer more benefits. A similar question about disclosure of a diagnosis of hemophilia A produced similar overall results. A third case described a situation where testing reveals that the husband is not the biological father of a child with a genetic disorder. This type of "incidental" information emerges fairly frequently, in as many as 10 percent of families tested at some laboratories in North America. In this case, the third party (husband) is not at genetic risk, nor are the couple's future children, as long as the husband is their genetic father. Although good could come from disclosure, most respondents concentrated on the potential harm; 96 percent worldwide would protect the mother's confidentiality to preserve the family unit. …