ETHICAL, LEGAL, AND SOCIAL ASPECTS OF MEDICAL CARE

Session V: Genetic Screening and Counseling

September 22, 1998

Prioritized Learning Objectives:

1. To consider whether a physician should distort the truth about a patient's genes to avoid harming the patient.

2. To consider whether a physician detecting a serious genetic disease in one patient has an obligation to inform relatives of that patient who might also have the disease.

3. To consider whether genetic counselors should give patients "facts", but otherwise remain neutral and whether they should make recommendations reflecting their personal values.

4. To consider whether a physician should conceal a patient's genetic makeup from a patient's family when this information might be harmful to the family.

5. To consider whether physicians should make "contracts" with patients concerning information they will and will not disclose concerning a fetus's genetic make-up prior to performing an amniocentesis.

6. To appreciate potential adverse consequences of genetic screening.

Computerized Learning Experience: Lesson G

Required Reading:

1. Beauchamp, TL, Childress, JF: Principles of Biomedical Ethics, Oxford Press, 4th Edition, 315-317, 401-406, 1994

2. Fost, N: Genetic Diagnosis and Treatment. AJDC, 147:1190-1195, 1993.

Prioritized Recommended Reading on Reserve in the Library:

1. Lappe M: The Predictive Power of the New Genetics. The Hastings Center Report, October 1984, pp. 18-21.

   (This author describes emerging possibilities of identifying persons at risk for diseases such as atherosclerosis and ways in which society could misuse this information.)

2. Murray R: Problems Behind the Promise: Ethical Issues in Mass Genetic Screening. The Hastings Center Report

   (The author (who is this session's speaker) describes subtle and not so subtle harmful effects of screening for Sickle Cell Trait and Disease).

3. Knight-Ridder: AF Academy Discharged Student/Grounded for Bearing Sickle Cell Trait. The Washington Post, p. 45, December 26, 1980.

4. Howe, Kark, Wright: Studying Sickle Cell Trait in Healthy Army Recruits: Should the Research be Done? Clinical Research 31:119-125, 1988.

   (An analysis of ethical factors military researchers should consider when deciding whether or not to do research on sickle cell trait).

5. The Case of the Breach of Contract Baby. Newsweek, p. 66, September 1, 1986.

   (A good example of conflicts arising in regard to surrogate motherhood).

6. Russell C: Reproductive Technology Debated. The Washington Post p. A3, September 9, 1986.

   (A brief summary of the guidelines regarding ethically acceptable uses of reproductive technology issued by the American Fertility Society. These recommendations are the first comprehensive guidelines regarding the subject issued in the U.S).

7. Thompson L: Gene Therapy in Humans Approved. The Washington Post, July 31, 1990, A3.

   (An article describing a pioneering advance in the use of gene therapy in humans)

8. Gaylin W: We Have the Awful Knowledge to Make Exact Copies of Human Beings. The New York Times, March 5, 1972.

   (Concerns about cloning raised 25+ years ago).

9. National Bioethics Advisory Commission: Cloning Human Beings, Executive Summary 1-2, Rockville, MD 1997.

   (This commission asked for a moratorium on cloning.)

10. Review of "Too Hot to Handle Conference," Paris, 1997. The Newsletter of the International Association of Bioethics, Spring 1998, 7-9.

    (Reviews contemporary European disagreements over how emerging genetic issues, such as, "Is it right to eat sheep meat with one human gene?" should be handled).

INTRODUCTION TO SESSION V

September 22, 1998

Numerous advances have been made in genetics over recent years. These innovations have led to unprecedented ethical dilemmas regarding genetic screening and counseling. Since genetic screening and counseling affect large numbers of people, the ethical issues they raise are particularly relevant to physicians' clinical practice. The Human Genome Project has, for example, resulted in tests for a gene which causes breast cancer but unlike Huntington's disease does not cause cancer in all who have the gene. Already, this has resulted in staggering ethical problems. In persons who have this gene it is unclear whether prophylactic surgery or mammography will help, and this data will not be available for several years. Some women informed of this, therefore, choose not to be tested. Yet, concomitantly, commercial tests are now available so that a woman can obtain this result with no counseling for $295 by sending in a tube of blood.

Further, these questions have arisen: Should a woman receiving the commercial tests inform her doctor? If she does, could it be more difficult to obtain health insurance? When should she inform a daughter? Should the daughter be tested? At what age should she decide?

During this session, Dr. Robert Murray, an eminent pediatrician, geneticist, and ethicist at Howard Medical School, will discuss basic principles regarding genetic screening and counseling and how they have been affected by new technologies introduced into medical practice.

Questions regarding genetic screening often involve a conflict between individuals' interest in not knowing that they have a genetic defect and various benefits screening could achieve. Testing of newborns for phenylketonuria, for example, violates interests mothers might have in not having their children tested, but in this instance, since the potential gain to affected children is so significant, these interests are overridden. Screening of adults, on the other hand, to determine whether they have sickle cell trait and their children might have sickle cell anemia might be more objectionable. Why?

The readings give a number of reasons. The results may be used to stigmatize those having the trait and even reinforce racism. There may be indirect pressure on carriers who are married to decide whether or not to ask potential partners if they have the trait or ask them to get tested prior to getting married.

Suppose, as a further comparison, that it were possible to screen newborns for Huntington's chorea. This would also be problematic. This illness cannot be cured and its prognosis can be shattering. Whatever benefits were gained from screening might be offset on those found to have Huntington's by the demoralizing effect of anticipating this disease. Yet, societal costs of treating patients with Huntington's could presumably be reduced if women pregnant with fetuses having the Huntington's gene chose to have abortions. How much do you think money should count? If, incidentally, pregnant women could discover that their fetuses had Huntington's, do you think they should abort? Would there be societal pressure to abort?

Similar values conflict when patients are screened for HIV. Most of you are probably familiar with the many adverse repercussions (as well as benefits) this has had for some patients. As an example of institutional discrimination, insurance companies,even if precluded from screening persons directly for HIV, may perform T4/T8 determinations which are less reliable. The burning of the house of family members whose children had HIV in Florida represents the untempered discrimination individuals can express against those with HIV.

Screening of blood donors has been justified on the basis of the obvious benefit to blood recipients. It has been suggested that these benefits be limited, however, to protect blood donors' interests. An NIH panel recommended, for example, that criminal penalties not be imposed on persons who give blood knowing that they have HIV, though this would be the only approach which would give some blood recipients protection. (Since that recommendation, persons who gave blood knowing that they had HIV have, however, been prosecuted). This panel also went further to protect blood donors. They recommended that all blood donors be given a check-off form on which they could indicate that their blood not be used for transfusions. This would enable persons with HIV to give blood in the same way as someone not having this disease without revealing to others that they have this illness.

There are other potential adverse consequences of screening for HIV analogous to those already mentioned for persons found on screening to have sickle cell trait. If a person with HIV wishes to get married, what dilemmas would a person with HIV have, presuming that this person and this person's prospective partner had not previously experienced physical intimacy? These persons could use condoms, but are condoms 100% safe? Do they always prevent pregnancy? Would you be willing to engage in sexual intercourse using condoms if your spouse had HIV? Some have recommended that persons wishing to get married undergo mandatory screening for HIV. Do you agree?

Now you can ask the same questions in regard to persons who know they have the Huntington's gene. What should they do when they encounter a prospective marital partner? If it were possible, should they be screened for Huntington's during infancy?

The most important ethical questions regarding genetic counseling are these: Should counselors give patients advice? Should they ever refuse to give advice even when a patient requests it? If they do give advice, what should it be? To get your feet wet, please read the appended article about Bree Walker Lampley. She has syndactyly. Would you advise her not to have children? Should you?

Consider as an example, a woman in her twenties who has had a parent die of Huntington's Chorea and wonders whether she should get pregnant. This woman has a 50% chance of having the gene for Huntington's Chorea. If she has the gene, her offspring's chance would also be 50-50. What should her physician say? If her offspring had the gene, would he be better off never having been born? Would the folksinger Woody Guthrie who died of Huntington's rather not have lived at all? Would his parents have preferred that he was never born? You will consider these questions in your discussion groups.

Genetic diseases often affect other persons in society as well as individual patients and their families. Decisions regarding genetic screening and counseling will, for example, influence the make-up of society's gene pool and affect future generations. Should this factor be considered when counseling patients? How does this compare with attempting to persuade patients to make decisions that will not benefit themselves, but will benefit other patients or save society money?

Consider these cases:

A client recently diagnosed as having Huntington's disease (HD) refuses to permit disclosure of the diagnosis and relevant genetic information to siblings who may be at risk for Huntington's disease. In your professional capacity as a medical geneticist, what would you do?

1. respect the client's desire for confidentiality

2. provide the information to siblings, whether or not they ask for it, only after all reasonable efforts to persuade the client to consent to voluntary disclosure have failed.

3. provide the information to siblings only if they ask for it, and after all reasonable efforts to persuade the client to consent to voluntary disclosure have failed.

4. provide the information to siblings, taking care to insure that only information directly relevant to the relatives' risks is provided, regardless of the client's desire.

5. send the information to the client's referring physician, and let that physician decide about disclosure.

A client with a child recently diagnosed as having hemophilia A refuses to permit disclosure of the diagnosis and relevant genetic information to her relatives who may be at risk for conceiving children with hemophilia A. The information could be useful to these relatives both because the female carrier can usually be detected and because hemophilia A is usually diagnosable prenatally. As a medical geneticist, what would you do about disclosure of this information?

1. respect the client's desire for confidentiality

2. provide the information to relatives whether or not they ask for it, only after all reasonable efforts to persuade the client to consent to voluntary disclosure have failed.

3. provide the information to relatives, whether or not they ask for it, taking care to insure that only information directly relevant to the relatives' risks is provided, regardless of client's desire.

4. provide the information to relatives only if they ask for it and only after all reasonable efforts to persuade the client to consent to voluntary disclosure have failed.

5. send the information to the client's referring physician as part of the medical record and let the physician decide about disclosure.

Dr. John Fletcher, the former bioethicist at NIH, asked 643 medical geneticists in 17 nations to respond to eighteen cases including these two. Do you expect there was consensus on these two cases? Of all eighteen cases he gave them, these were the two for which there was least consensus.

Genetic engineering and other reproductive advances can also affect society in ways which may be undesirable. Sex selection may have serious adverse consequences. For instance, if male children are selected preferentially, this could reinforce societal sexism. The late Margaret Meade conveyed the profound implications of this consequence when she claimed paradoxically that she favored prenatal sex selection: only then could females ever really be sure that their parents truly wanted them.

What would you tell a pregnant woman in her late 30's who has requested an amniocentesis allegedly to determine if her fetus had Down's syndrome? Suppose that her fetus doesn't have Down's syndrome but that she has five sons or five daughters. She asks you its sex. She may want to learn its sex so that she can get an abortion if it is the wrong sex. Would you tell her the fetus's sex? If not, should you inform her of this before she undergoes an amniocentesis?

Dr. Fletcher also asked the medical geneticists previously mentioned to respond to this case:

A couple requests prenatal diagnosis for purposes of selecting the sex of the child. They already have four girls and are desperate for a boy. They say that if the fetus is a girl, they will abort it and will keep trying until they conceive a boy. They also tell you that if you refuse to do prenatal diagnosis for sex selection, they will abort the fetus rather than risk having another girl. The clinic for which you work has no regulations prohibiting use of prenatal diagnosis for sex selection. What would you do?

1. grant their request for prenatal diagnosis

2. refuse their request for prenatal diagnosis

3. try to dissuade them from having prenatal diagnosis, and if they still insist on having it, refuse their request

4. refer them to another medical geneticist or genetics unit offering the service

There was stronger consensus within each country concerning this case, but this case caused the greatest ethical conflict between countries.

Dr. Fletcher reports and comments as follows:

There was a strong consensus (75%) against the use of prenatal diagnosis for sex selection in the following nations: Australia, Denmark, Federal Republic of Germany, France, German Democratic Republic, Greece, Italy, Japan, Norway, Switzerland, and the United Kingdom. Moderate consensus (66.6%) against it was found in Brazil and Israel. Geneticists in Canada (51%) and the U.S. (60%) would either perform it or refer to someone who might perform it. In Hungary, 60% of geneticists would perform it and 40% would refuse it. Sex selection is clearly the most controversial ethical issue at present in medical genetics, when viewed in terms of the degree of consensus against as over against a growing trend in some nations to meet parents' requests for this purpose. Responses from the U.S. and Canada contrast markedly with earlier studies finding only 1% in a sample of 448 (Sorenson, 1975) and 21% in a sample of 149 (Fraser and Pressor, 1977) willing to perform prenatal diagnosis for sex selection. As chorionic villus sampling becomes readily available, medical geneticists may become even more willing to comply with this still controversial request.

The cases provided for this discussion raise additional issues regarding genetic counseling and present some of their complexities. You may wish to consider how results such as those I have just cited should or should not influence your thinking after you discuss the cases.

Session V - Cases for Discussion

September 22, 1998

Case 1

A mother brings her first child, an 18 month old, who had been found to have the sickle cell trait to the genetics clinic for counseling about the meaning of this designation (diagnosis). It is recommended by the counselor that mother and father be tested since both might be carrying the hemoglobin S gene and, therefore, might be at risk to have a child with sickle cell anemia (SS).

When the report came back from the laboratory, both parents were found to be negative for the presence of S, C, or Thalassemia trait. The mother when informed of this result, stated that she wanted to have the record show that she had S trait. In order to get her husband to agree to be tested, she had explained quite correctly that either he or she carried the trait but that both might carry the trait. She felt that he would not believe that a mutation had occurred since this child was born 7 1/2 months after they were married. She characterized him as extremely jealous and stated that she loved him very much and wanted desperately to preserve their marriage.

Do you go along with her request?

Case 2

An attractive, married, 20 year old black female is referred to you by an OB-GYN specialist with a history of amenorrhea and infertility. She had been treated with birth control pills and progesterone without any bleeding. On laparoscopy, she was found to have infantile uterus. A small mass had been palpated in the right inguinal region and small bilateral inguinal hernia was found. Breast development was normal. A chromosome study revealed a 46,XY karyotype. A biopsy of "ovarian" tissue was interpreted as testicular tissue.

In determining what to tell this patient during genetic counseling, the counselor noted that there was a very high frequency of malignant degeneration of intra abdominal testes. Furthermore, a high proportion of females when informed of this diagnosis have a severe psychiatric reaction (including suicide) and when married, a significant percentage of husbands cannot adjust to the changed image of their spouse, including divorcing them.

What would you tell this woman concerning her diagnosis?

Case 3

A 24 year old white male comes to the genetics clinic because he has learned that his mother, aged 50, has Huntington's disease. The geneticist explain that the client has a 50:50 chance of developing this degenerative neurological disorder, that his children will each have a 1:4 risk at birth until he develops the disorder at which time each child will have a 50:50 chance of also developing this condition. The geneticist explains that there is not yet an effective treatment and that the only way for him to avoid having affected children is for him not to have any children.

The client says that he does not want his wife told about this diagnosis because he is afraid she won't want to have children with him. He feels that whether or not he gets the gene and develops the disease is the Lord's will and, therefore, he will go ahead and have children who will also be subject to the will of the Almighty.

He tells his wife about having come to the genetics clinic. His wife calls to inquire as to whether or not her husband could be carrying a gene which could be passed on to her children and result in their having a disease.

What do you tell her?

Case 4

A young married childless couple is referred to the genetics clinic for counseling because they are one of the unique couples where both husband and wife have sickle cell anemia. They have both had relatively mild cases of sickle cell anemia.

The counselor explains that every child born to them will have sickle cell anemia, but that they cannot be certain that their clinical course will be as mild as their parents. They also discuss the prognosis of the parents and the fact they (the parents) will not react favorably to stress and will face other complications.

Should the counselor try to discourage this couple from having children?

(Assume hypothetically in responding to this case that the fetus's having sickle cell anemia cannot be detected prior to birth. In fact, this is no longer the case.

A somewhat similar ethical dilemma exists when sickle cell anemia is detected early during pregnancy and abortion can be considered. Namely, suppose the mother or couple asks you if she should get an abortion. Presuming that you are not opposed to abortion in all cases, how would you respond?)

The above four cases were provided by Robert F. Murray, Jr., M.D.

Case 5

Mr. and Mrs. Edwall heard about the Tay-Sachs screening program at their local synagogue. The Genetics Unit at the city's teaching hospital had organized the city's Jewish religious and civic groups in an effort to identify carriers of the gene responsible for the disease. The couple's rabbi was fully behind the program. In an evening educational session at the synagogue they were told that Tay-Sachs is a genetic disease leading to a progressive mental and physical deterioration. Over a period of months, the Tays-Sachs baby develops blindness, motor paralysis, spasticity, and finally decerebrate rigidity, a rigidity of the muscles when the higher brain is not functioning. Death occurs before the third year of life. The disease is untreatable, but carriers of the recessive gene can be detected a reduced amount of hexosaminidase in a blood analysis. When both husband and wife are carriers so that they are at risk of having an affected child, prenatal diagnosis of the disease can be carried out during the middle trimester of pregnancy, in time to give the parents the option of an abortion.

Mr. and Mrs. Edwall were confident that they were not carriers. They were both in good health. Mr. Edwall was a construction worker who had not missed a day on the job in his life. As far as they knew, there was no history of Tay-Sachs on either side of their family. The incidence of the trait in the non-Jewish population is only 1 in 300, but among Ashkenazi Jews, the group from which the Edwalls came and which makes up about 90 percent of the American Jewish population, the incidence is about 1 in 30. This is the reason for conducting a screening program through local Jewish organizations. Mr. and Mrs. Edwall were planning to start their family within the next year, so they thought they should have the test "just to be sure."

The chief counselor for the unit asked them into her office. After emphasizing very clearly that they could never have a Tay-Sachs baby, she disclosed to them that Mr. Edwall had a recessive Tay-Sachs gene.

Then the counselor asked about Mr. Edwall's family. He had two younger brothers, both married. The counselor advised that the other members of his family should be screened, especially since his brother would be likely to have children soon. She suggested that the brothers be tested soon and that Mr. Edwall's parents be screened to see which side of the family carried the gene. Screening could then be carried out on those who were at especially high risk. The Genetics Unit had a carefully worded letter which could be sent by a patient to relatives informing them of the importance of the test.

Mr. Edwall was dumbfounded. He understood that the gene really would not affect his health, yet he felt that there was something wrong. Somehow he was "not quite a man" if half of his children would have that same "sickness in their cells." He refused to inform his family because of the shame.

The counselor was angered. Here was a man who had two brothers who were about to start families. The brothers had a 50 percent chance of carrying the recessive gene, which meant that, with a 1-in-30 chance of the spouses having the gene, there was a 1-in-60 chance of each of the couples being able to produce a baby with Tay-Sachs disease.

Should the counselor send a letter to Mr. Edwall's two brothers over his objection?

From Veatch, Case Studies in Medical Ethics,, pp. 130-131.

Case 6

Martha Lawrence was tense and nervous when she came to the Human Genetics Unit on December 12, 1971. She had been referred by her own physician because, unexpectedly pregnant at the age of 41, she was considered at risk for the birth of a Mongoloid child. She was eighteen weeks pregnant, which would not leave much time for a potential abortion.

Down's syndrome babies are twenty times as likely to be born to women over 40 as to women under 25. About 50 percent of all such babies are born to mothers over 35, and 25 percent to mothers over 50.

Mrs. Lawrence's first two pregnancies had been uncomplicated, and her two sons, ages 16 and 13, were both in good health. The genetic counselor, Dr. Brenda Gould, recommended amniocentesis, the withdrawal of a sample of the amniotic fluid surrounding the fetus, drawn from the abdomen with a needle. The fluid contains enough fetal cells for biochemical or chromosomal analysis.

The sample showed that the fetus had no extra twenty-first chromosome and thus was free of Down's Syndrome. But the sex-chromosomes, rather than being XX for female or XY for male, showed the abnormal XYY composition. Some research suggests that XYY males might be more inclined to violate acts, including sexual offenses, while other recent studies do not confirm this finding. Many, in fact, feel that there is no evidence whatsoever that XYY individuals are more aggressive.

What should Dr. Gould tell Mrs. Lawrence?

From Veatch, Case Studies in Medical Ethics, p. 137

FACILITATOR'S GUIDELINES DISCUSSING CASES

SESSION V - September 22, 1998

Case 1 - The conflict in this case is between taking the risk of destroying the marriage by informing the father of the test results over his wife's objection versus explicitly deceiving him and lying on the record. The students may assert that informing the husband that the child probably is not his would not necessarily destroy his relationship with his wife or child. This is a good point, in that sensitive counseling may help the family adjust to this knowledge. As the case is given, however, this possibility seems unlikely. Moreover, the student claiming this may be attempting to "get around" the difficult conflict in this case and should not be permitted to do so.

A plausible means of avoiding this basic conflict is, on the other hand, offered by the possibility that the mother or father's testing for sickle cell trait was falsely negative. That is, the father could possibly be the biological father and he could be informed that the child would not have sickle cell anemia and that no further testing is necessary. False negatives have on occasion occurred.

If a student argues that the physician should lie on the record, the possibility that the father may later find out that the physician has lied should be raised. In some instances this possibility is substantial, in others small. The students might be asked how strong they consider this risk in this case.

Finally, the students might be asked whether they would be willing to inform the father that they believe that a mutation had occurred. They could tell this to the father without indicating that this is a highly rare event.

The students may respond that this might "work" with a patient lacking knowledge but should "backfire" with a more knowledgeable father. Conceding that these consequences are likely, this question might then be raised: should physicians attempt to guess which fathers are knowledgeable and which are not when encountering this situation or eschew such guessing altogether? What would be the positive and negative consequences of each approach?

In Dr. Fletcher's study (see the discussion in the student packet) a case closely analogous to this one was the case in which there was strongest consensus among all countries. In 96% of the countries sampled there was consensus (defined as 75% agreement among genetic counselors) that the mother's confidentiality should override disclosure of true paternity.

Case 2 - This case raises the question when, if ever, a physician should lie to a patient concerning the patient's genetic makeup. As the case is given,the question what the physician should tell the spouse, raised in the previous case, is not explicitly asked, but this question might also be posed to students after they discuss what they believe the physician should tell the patient.

This same case, incidentally, was apparently given to endocrinologists taking specialty boards ten years or so ago. At that time it was felt that physicians should withhold this information. Since that time, I am informed, this question has been deleted.

Again, the students may argue that the patient would not necessarily commit suicide and with good counseling may be able to take this information in stride. This possibility is insightful and more probable than in the previous case. Yet, suicide could occur. The student should be forced to acknowledge that this is a risk the physicians may take if they choose to inform the patient fully. Such prices are what makes difficult ethical cases agonizing.

Again, if the physician deceives this woman, she could in later years, discover that she had been deceived. The students might be asked if their response would differ if this woman were sixty years' old and she had already had her "testes" removed under some pretense. And what if her husband were sixty-five years old and had "macho" values such that it seemed more likely that he might find his wife's having male chromosomes exceptionally disturbing? Would the students' response differ if they had this information?

The students should also be asked whether they consider this patient a man or woman and why. If they experience a dilemma in responding to this question this may reflect an unexamined personal bias. That is, in all morally relevant respects, this patient is a woman. If a physician recognizes that this patient is a woman, whether the physician tells her merely that she has "atypical" genes or that she has a XY karyotype, it is more likely that the physician could communicate this to her without disturbing her emotionally. Whatever the physician tells her, the physician should also give her information to minimize her risk from malignant degeneration of intra-abdominal testes. This would obviously be more difficult if the physician does not tell the patient that she has an XY karyotype.

What about her husband? The students might be asked if they see relevant differences between this and the previous case. Is a father's "right" to know whether his son is biologically his own, stronger than his "right" to know that his wife has a male karyotype? If the student sees a difference, is this a valid ethical distinction or does it primarily reflect personal bias? In the first case, the child's interest was also involved. How much should this count in differentiating the two cases?

There was also a case analogous to this one in Dr. Fletcher's study. This case caused the third greatest lack of ethical consensus within countries. There was strong consensus (75% of geneticists) that she should not be told in eight countries and no consensus in seven, including the U.S. Interestingly, there was moderate consensus (67% of geneticists) that she should be told in Canada. The results of all the responses compiled were as follows: Disclose 51%; Don't Disclose 49%.

Case 3 - This case raises the question whether or not a physician should inform a patient's spouse or children about this patient's genetic probabilities over that patient's objection. In this case there is a wrinkle some students may perceive. That is ,why did the patient tell his wife about having come to the genetics clinic? Psychologically, was part of him not able to live with hiding this from her and attempting to insure that she would find out in this manner? If identifying this possibility, the students may argue that the patient is responsible for his wife's calling the clinic and that the physician has no obligation to remain silent.

It is questionable, however, whether this patient's happening to express psychological ambivalence should be the deciding factor upon which physicians should base their decision. The husband has an interest in experiencing several years or a lifetime of a "happy" marriage and perhaps being a parent. The wife has an interest in, among other things, possibly choosing to have no children. Furthermore, the unborn child has an interest. Now these should be weighed and should be discussed.

The students might compare the values they wish to prioritize in this case with those they prioritized in the two previous cases. In the first the risk from divulging information was destroying a marriage and a parent/child relationship, and in the second, destroying the patient's self-esteem and marriage. If the students wish to inform fully in one or two cases but not in the others, what is their basis for this distinction?

Having wrestled with these questions, the students then might be informed that substantial numbers of patients at risk for having Huntington's indicate that they would want to know. (Bird, SJ: Presymptomatic Testing for Huntington's Disease, JAMA 253(22):3286-3291, June 14, 1985). The students might then be asked whether they believe these patients, and, if they do, whether this information would affect what they would do in this case. That is, first, should they accept such statements as representing these patients' genuine wish or infer that these statements probably represent their rationalizing away unbearable fears? Second, if they make the former inference, and believe that such patients would want to know, is the case stronger that physicians should give the wife this information?

This was the case that caused the greatest lack of consensus within countries in Dr. Fletcher's study. (See the specific case in the student packet.) The cumulative results are as follows:

Case 4 - The issue in this case is whether the counselor should go beyond being neutral and describing just the medical "facts" to recommending that they not have children or adopt. These parents may themselves have recurrent illness and if they have children the stress and expense of all family members' medical problems will be substantial. Students may believe that they should remain neutral in all cases because parents, not they, must live with the decision. In general, in Dr. Fletcher's study, there was strong general consensus among all countries except Japan and Hungary that it is not appropriate for genetic counselors to advise patients what they ought to do. There was also strong general consensus that genetic counselors should not even state what they would do in the patient's situation in approximately half the countries including the U.S.

But is this case an exception? In this case, for example, are the consequences so certain and severe that the parents are more likely to be denying them? If students would remain neutral, they might be asked if they would ever abandon neutrality. What if, for example, this couple were penniless, had already both been frequently hospitalized and already had one child with sickle cell anemia? Or two? Or three?

Case 5 - The issue in this case is similar to that in the first three cases, and it involves the conflict between the patient's desire to keep his genetic makeup confidential and others' potential interests in having this information. Again, since potential offsprings' interests are at stake, the students might compare, for example, the interests of Mr. Edwall's brothers in not having a child with Tay-Sachs with that of a parent not having a child with Huntington's. The students might also compare the weight they would give the interests of an infant born with Tay-Sachs with those of an infant born with Huntington's. Parents who are carriers of Tay-Sachs can now, by prenatal diagnosis, determine whether or not their child is affected; this is not presently possible with Huntington's, but may be soon.

Case 6 - This case raises two major questions: whether genetic information about a patient is the patient's or to some extent the physician's and, whether the physician should share genetic information when it is scientifically uncertain or ambiguous.

The students will have already been exposed to this case in their introductory packet. They considered several possible consequences there, such as the risks that the mother, after learning of her infant's XYY genes, might overprotect him, or believe so strongly that he could become violent that this becomes a self-fulfilling prophecy; and the benefit that the mother, alert to this possibility, might seek early psychiatric assistance and minimize her son's developing violent tendencies, if indeed these genes could have this effect.

Whatever the students' beliefs as to whether or not the physician should inform the mother, they should be asked whether they believe the physician should have made a "contract" with the mother prior to performing amniocentesis to avoid this dilemma. This contract could state, for example, that the physician would tell her only information concerning a serious genetic defect, all information, or only information having "scientific" certainty and relevance. According to this last standard, the physician could disclose her fetus's XYY genes or could not, according to the physician's view regarding the scientific certainty and the relevance of XYY. Whether or not the mother received this information might then depend on the idiosyncratic values of the particular physician the mother sees. The students might be asked whether this result is optimal.

The students might also be asked whether they believe a physician should "contract" with a patient before performing amniocentesis whether the physician will disclose the fetus's sex. This question was raised in the student packet for this session. Suppose, for example, that the physician considers abortion morally acceptable in other instances but unconscionable on the basis of sex (as it would be on the basis of race). Should physicians give priority to their own moral values and refuse beforehand to disclose this information? And what if no contract is made? Should the physician then insist on not disclosing the fetus's sex or does the absence of a contract change the physician's ethical responsibilities? Pragmatically, of course, if the physician will not divulge the fetus's sex, the patient may go elsewhere.

In the XYY case, the physician could also ask patients requesting an amniocentesis beforehand whether or not they would want all information possible? If so, should physicians, paternalistically, insist on a contract permitting them not to disclose information that they consider scientifically uncertain or ambiguous?

In response to an analogous case, involving a genetic counselor's disclosing to a mother that her fetus had XYY, Dr. Fletcher found that in almost all countries there was consensus that geneticists should nondirectly counsel parents about fetuses with XYY. Although there was consensus that counseling should be non-directive, 13% of geneticists would provide optimistically weighted information or advice about XYY. In comparison, only 7% would provide such advice for XO.