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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. Most (81%) would tell her privately so that she can decide what to tell her husband and so that she will not conceive another child by the same man. Some (13%) would lie (tell the couple that they are both genetically responsible for the child's disorder, for example), and 2 percent would ascribe the disorder to a new mutation, a one-in-a-million occurence. Geneticists in Greece, India, Switzerland, and Turkey said that this case posed the greatest ethical dilemma.

Disclosure of Sensitive Information Sometimes genetic tests reveal information that could threaten a patient's emotional stability. Two cases were of this type. One described an "XY female," a woman of normal appearance who seeks a cure for her infertility and is discovered to have male chromosomes. She has been raised as a woman and may be married. Although she is genetically male, while she was in the womb she did not respond to the male hormones necessary to complete her sexual development. In these situations, nature creates an infertile female. Telling her this could have disastrous psychological consequences; it could also lead to social stigmatization or divorce. Not telling her could also have harmful consequences, because the vestigial male gonads hidden in her abdomen could become cancerous and should be removed surgically. The rule of informed consent requires that she know what is being removed. Moreover, until the matter of fertility is finally resolved, she will go from doctor to doctor futilely seeking treatment.

There was no consensus about disclosure among our respondents: 51 percent would tell her about the XY chromosomes and 49 percent would present other reasons for her infertility. Doctors' greater willingness to disclose in Australia, Canada, and the United States reflects self-confidence in their ability to tell the truth without causing harm, an ability gained through the clinical training in counseling prevalent in these nations. Many said that how much information they disclosed would depend on the patient's own education and intelligence.

In a second case, respondents were asked whether they would tell a couple which partner carried a balanced translocation of chromosomal material that had caused Down syndrome in their child. The consequences of unrequested disclosure are potentially damaging, because marital partners often blame each other for a child's disorder. On the other hand, disclosure could alleviate the noncarrier's irrational feelings of guilt. Disclosure also makes it possible for the couple to consider alternative means of reproduction, such as artificial insemination by donor (AID) or surrogacy, to avoid conceiving another child with Down syndrome if they are opposed to abortion. Finally, disclosure makes it easier to test the carrier's relatives, who may also have balanced translocations that could affect their children.

There was no consensus about disclosure: 54 percent of respondents would tell the couple, unasked, which of them was the carrier; 43 percent would tell them that the information exists and give them the choice of knowing or not knowing; and 3 percent would conceal the information. In Japan, where few would disclose such information unless asked, genetic disorders are seen as casting shame upon the entire extended family.

Full Disclosure of Test Results Three cases involved disclosing the results of prenatal diagnosis. In the first case, results were ambiguous; they could be interpreted either to indicate a trisomy 13 fetus, which would be severely retarded, or to be an artifact of laboratory culture, a false positive. It is too late in gestation for repeat tests to resolve the ambiguity. Geneticists in the laboratory have disagreed about the meaning of these results. In the second case, results of several different tests, including maternal serum alphafetoprotein (MSAFP), ultrasound, and amniocentesis, are inconsistent but suggest a small neural tube defect. The third case described what was in 1985 a new, controversial interpretation linking low MSAFP with Down syndrome. In each case, there was worldwide consensus (94 to 98%) to tell patients about the ambiguous, conflicting, or controversial results, but only 66 percent would also reveal colleague disagreements. In the United States, 75 percent would disclose disagreements, but in the United Kingdom, where 52 percent would disclose, doctors considered this latter information gratuitous, unnecessary, or even harmful to the patient. In eight nations the majority would not disclose. In general, however, these responses reflect a new openness. In some nations, only a few years ago doctors would not have told patients about sex chromosome abnormalities such as 45, X (Turner syndrome) or XYY incidentally discovered in prenatal diagnosis for Down syndrome.

Directive versus Nondirective Counseling Around the world, most geneticists subscribe to the ideal of nondirectiveness. When asked about the goals and conduct of counseling, 99.8 percent said that the first goal of counseling was to help patients understand genetic information so that they can make informed decisions; only 15 percent considered it appropriate to advise patients what to do. The exception was Hungary, where geneticists routinely give five categories of directive advice, ranging from "pregnancy is recommended" to "pregnancy is not recommended."[2]

Three of our clinical cases offered opportunity for directive counseling: patients carrying 45, X or XYY fetuses, and a couple at high genetic risk who nevertheless wanted to have a normal child. Both 45, X and XYY are considered low-burden disorders, although 45, X girls are short, infertile, and have a range of treatable physical problems, and XYY boys frequently have learning disorders. There was consensus (88% and 84%) that counseling should be nondirective in each case; 20 percent of respondents did not consider these disorders to be significant abnormalities. There were some exceptions: In India and Hungary, 46 percent and 40 percent respectively would advise aborting

a 45, X fetus or would give pessimistically slanted information. Indian geneticists noted that an infertile girl would not be marriageable and consequently would impose an economic burden on the family. In France, Hungary, and the German Democratic Republic, 65 percent, 60 percent, and 43 percent, respectively, would advise carrying an XYY fetus to term or would give optimistically slanted information.

Presenting or not presenting reproductive options is another avenue for directive counseling. We described a couple where one spouse had an autosomal dominant disorder (tuberous sclerosis) that cannot be diagnosed prenatally. This disorder varies in severity. Although the parent described was of normal intelligence, the couple's child was severely retarded. They are at 50 percent risk of passing this disorder on to their next child. We listed reproductive options and asked respondents to indicate, for each one, whether they would advise the couple to do this, advise them not to do it, discuss it without being asked, discuss it only if asked, or not discuss it at all. The majority of our respondents indicated that they would discuss certain courses of action with the couple without being asked to do so and without giving advice: taking their chances (75%); contraception (74%); adoption (85%); vasectomy (73%); tubal ligation (74%).

Responses varied considerably with respect to AID, in vitro fertilization (IVF) with a donor egg, and "surrogate motherhood," however. Although 83 percent of geneticists worldwide would spontaneously discuss AID as an option, it is not culturally accepted in Japan and Turkey, was illegal until recently in Brazil, and is of only limited acceptability in India, the German Democratic Republic, and Hungary. In vitro fertilization with a donor egg has perhaps a 6 percent success rate in the few nations where it is available, and commercial surrogacy is virtually non-existent outside the United States and is in fact illegal in several nations. Nevertheless, 66 percent of respondents (83% in the U.S.) would discuss IVF and 46 percent (67% in the U.S.) would discuss surrogacy as "options" for this couple. Many considered IVF preferable because it is less likely to cause interpersonal conflicts; few mentioned its technical difficulties.

Prenatal Diagnosis Without Medical Indications We also described three cases in which prenatal diagnosis was requested without medical indication. Most respondents (85%, including 96% in the U.S.) would perform prenatal diagnosis for a couple with a Down syndrome child who oppose abortion and seek testing to prepare themselves for the birth of another child with Down syndrome. Most geneticists said that willingness to abort should not be a precondition for prenatal diagnosis; patients should be free to do what they wish based on the information from the tests. Interestingly, however, 34 percent thought that the couple described would change their minds about abortion if Down syndrome were diagnosed. Fewer geneticists in France, the GDR, Greece, Hungary, Japan, and Norway (47 to 57%) would do the tests than elsewhere, because of lack of resources. In Norway, parliament regulates the number of procedures that can be performed annually.

In all, 63 percent (78% in the U.S.) would perform prenatal diagnosis for an anxious woman of twenty-five with no medical indication, and another 10 percent (11% in the U.S.) would offer a referral. In Denmark, Sweden, and Switzerland, anxiety is now accepted as a medical indication and accounts for about 10 percent of procedures. Although the majority of women for whom prenatal diagnosis is indicated by age (over 35) still do not receive it in the United States, United Kingdom, and other nations, many geneticists seemed to think that resources were adequate to serve anxious women. As in the previous case, they believed that withholding prenatal diagnosis would be paternalistic and would infringe on patients' autonomy.

Sex selection was identified as posing the greatest ethical dilemma by respondents in seven nations (Brazil, the FRG, Israel, Sweden, Switzerland, the U.K. and the U.S.). In this case, a couple with four healthy daughters desire a son. They say that if the fetus is a female they will abort it, and if they are refused prenatal diagnosis they will abort it anyway, rather than risk having a fifth girl. In this case, 24 percent (34% in the U.S.) would perform prenatal diagnosis solely for sex selection, and another 17 percent (28% in the U.S.) would offer a referral. Although a majority of geneticists in the United States, Hungary, and India would perform prenatal diagnosis for this couple or refer them to someone who would, they would do so for different reasons. American geneticists based their responses on respect for patient autonomy; Hungarian geneticists thought they were saving half the fetuses from abortion; and Indian geneticists spoke of limiting the population or preventing the suffering or early death of unwanted females.[3]

Workplace Screening Overall, 72 percent of respondents thought that genetic screening in the workplace should be voluntary. Exceptions were Brazil, the GDR, Hungary, India, and Turkey, where the majority thought it should be mandatory, as a means of protecting workers.[4] Among these respondents there was strong consensus (81 to 89%) that employers and insurers should have no access to the results without the worker's consent, and 40 percent thought that insurers should have no access at all, even with consent. In all, 75 percent thought that if and when population screening for cystic fibrosis becomes feasible, participation should be voluntary.

Future Priorities in Ethics Geneticists in all nations ranked increased demand for services, carrier screening for common genetic disorders, and allocation of limited resources as the issues that should be of greatest ethical concern within the next ten to fifteen years. Research on the human embryo, genetic screening in the workplace for susceptibility to occupationally related disease, long-range eugenic concerns, and sex selection were considered less problematic. Yet these are the very issues that are of most concern to the public and are most likely to discredit the profession if not addressed with some unanimity in each nation.

In clinical practice, the most difficult future issues involve disclosure. Traditional views about doctor-patient relationships may have to change. In genetics, the patient is really the family rather than the individual, which means that duties to relatives may take precedence over individual rights to privacy. Genetic disorders are communicable to the next generation, and the moral obligation to warn third parties of harm applies, as with communicable or sexually transmitted diseases.

In the future, popular understanding of genetics will become more sophisticated and widespread. Full disclosure, even of sensitive information, supports this trend and helps to dispel the stigmas that some have attached to genetic disorders. Possible exceptions to a practice of full disclosure would be information not related to the health of a patient, relative, or offspring (such as false paternity) or those cases where the patient is mentally or emotionally unable to comprehend the information.

The survey results described above are a first step toward international discussion. We anticipate that as patients and professionals become more aware of views in different nations, there may be greater consensus. References The survey was supported by the Medical Trust, one of the Pew Memorial Trusts administered by the Glenmede Trust Company, Philadelphia, PA, by the Muriel and Maurice Miller Foundation, Washington, DC, and by the Norwegian Marshall Fund. [1]Questionnaires were anonymous, in English, and took approximately two hours to complete. We tried to include all nations with ten or more practicing doctoral level geneticists in 1985. Of 1,098 asked to participate, 682 (62%) responded, ranging from over 80 percent in Australia, Federal Republic of Germany, German Democratic Republic, Hungary, Israel, and Sweden down to 38 percent in India and Turkey. The high response rate for so lengthy and instrument suggests that geneticists had considerable interest in the subject matter. Of respondents, 81 percent were MDs, including 45 percent who were pediatricians, and 16 percent were PhDs; they had a median of fourteen years in the practice of genetics, on which they spent an average of 45 hours a week, and they attended a median of one religious observance a year. Of the total, 35 percent were women.

The full details and case descriptions appear in our forthcoming book, Ethics and Human Genetics: A Cross-Cultural Perspective (Heidelberg: Springer-Verlag, 1989); See also, Dorothy C. Wertz and John C. Fletcher, "Ethical Problems in Prenatal Diagnosis: A Cross-cultural Survey of Medical Geneticists in 18 Nations," Prenatal Diagnosis 9:3 (1989), 145-157; "Attitudes of Genetic Counselors: A Multi-national Survey," American Journal of Human Genetics 42:4 (1988), 592-600. [2]Andrew Czeizel, The Right to be Born Healthy: The Ethical Problems of Human Genetics in Hungary (New York: Alan R. Liss, 1988). [3]Dorothy C. Wertz and John C. Fletcher, "Fatal Knowledge? Prenatal Diagnosis and Sex Selection," Hastings Center Report 19:3 (1989), 21-27. [4]Dorothy C. Wertz and John C. Fletcher, "An International Survey of Attitudes of Medical Geneticists Toward Mass Screening and Access to Results," Public Health Reports 104:1 (1989), 35-44. Dorothy C. Wertz is research professor in the School of Public Health at Boston University; John C. Fletcher is director of the Center for Biomedical Ethics at the University of Virginia.
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Title Annotation:genetic research
Author:Wertz, Dorothy C.; Fletcher, John C.
Publication:The Hastings Center Report
Date:Jul 1, 1989
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