AMA Journal of Ethics^®

Case

Dr. Berkman welcomes his long time patient, Sue, to the clinic. Today she is accompanied by her 17-year-old daughter, Marie, and Marie's boyfriend, Tom. Marie is 8 weeks pregnant, and the 3 have come for genetic counseling.

Dr. Berkman is familiar with the family history of Huntington's disease and understands Marie's desire to know the fate of her child. A review of the patient's history shows that Huntington's is present on the paternal side of the family; Marie's father and his sister have both been diagnosed with the disease. Marie's father is in the end stage of the disease with Sue as his primary caregiver. Marie's aunt committed suicide 15 years ago after receiving her diagnosis.

Dr. Berkman talks with the 3 about the decisions they may face when the results are in and supports Marie's decision to go forward with the test. Dr. Berkman informs Marie that a positive result for her fetus would mean that she also carries the genetic trait. This information further convinces Marie that she must have her fetus tested. There is approximately a 2-week waiting period for the return of the results. Dr. Berkman encourages the family to consider the various options that a positive result would present during the wait time and offers his continuing counseling and clinical expertise.

Upon receiving the test results Dr. Berkman informs Marie, Sue, and Tom that the fetus does indeed contain the Huntington gene. Marie is adamant that she does not wish for her child to suffer through the progressive deterioration of the disease in the same manner as her father. Marie states that she wants to abort the fetus because of the positive result.

Sue acknowledges that the consequences of the disease are terrible and is sympathetic to the views of her daughter, but is nostalgic and optimistic with regard to the years preceding the disease. Sue believes her future grandchild should have an opportunity to live a fulfilling life prior to the onset of symptoms just as her husband did. Sue and Marie look to Dr. Berkman for help in resolving their difference of opinion.

Commentary 2

Prenatal genetic testing for late onset disorders like Huntington's disease (HD) is particularly controversial and creates difficult ethical issues.

First, because there are currently no effective preventive or therapeutic measures for HD, prenatal genetic testing for this disorder is inevitably linked to the question of selective abortion: is carrying the HD gene an ethically justified reason for abortion? The role that prospective quality of life plays in the decision depends on the ethical position one takes about abortion. There are 3 dominate points of view: (1) According to the conservative—commonly known as the "pro life"— view, the fetus has the same moral status, privileges, and rights as an adult human being. Hence, abortion is morally impermissible under all but the most extreme circumstances. In this deontological position, the prospective quality of life is irrelevant. (2) According to the liberal view known also as the "pro choice" view, the fetus does not have the same right to life as an adult person, therefore abortion is permissible if it is the autonomous choice of the pregnant woman. Under this premise, the unborn child's prospective quality of life might factor into the pregnant woman's decision of whether or not to carry a pregnancy to term. In this particular case, using the liberal viewpoint, how other people—eg, the genetic counsellor or Marie's mother—evaluate the prospective quality of life does not matter (3). More interesting from an ethical perspective, seems to be the intermediate view, which is often based on a gradualist position on the moral standing of the fetus: the moral status gradually increases as the fetus develops. Thus, abortion is permissible under certain circumstances but forces one to ask: what are morally legitimate reasons to terminate a pregnancy?

In general, using the intermediate view, abortion might be justified if it is able to prevent substantial harm and suffering to the child. So we must decide whether carrying the HD gene is a substantial harm and, hence, a sufficient reason to justify abortion. To answer this question, we inevitably must make assumptions about the future quality of life of the unborn child. These predictions are especially difficult to make in late onset diseases like HD, since there are 2 distinct phases of life: before and after the onset of the disease. During the first decades of life, individuals with the HD gene can live physically unimpaired lives. However, they have to live with the psychological burden either of uncertainty or, after predictive genetic testing, of anticipation of the disease onset. HD has devastating physical and psychological consequences for both the patients and their family members. We would certainly all agree that HD is a severe neurological disease and that we would do anything to prevent or cure the disease if we could. On the other hand, people can live with a reasonable or even good quality of life before the onset of symptoms. Unfortunately, when considering the termination of a pregnancy we must make an integral evaluation of the prospective quality of life. In other words, we must balance the relatively good quality of life during the first decades against the increasingly poor quality of life after the onset of the disease. Two facts complicate this quality-of-life judgment even further: First, subjective quality of life assessments of HD patients before the onset of the disease vary greatly, and, second, it is difficult for others to estimate how much patients suffer with manifest HD. Accordingly, it is almost impossible to make objective and ethically compelling assessments of the prospective quality of life for a fetus with the HD gene.

Should, then, quality-of-life considerations be excluded completely from the decision-making process? In a world in which reproductive autonomy is a fundamental value, this appears unrealistic. Pregnant women with the Huntington's mutation and a 50 percent risk of transmitting it to their offspring, will continue to request prenatal genetic testing and consider selective abortion. In many cases, these individuals, like Marie in our case, will have experienced the suffering of other family members with HD, both before and after the onset of the disease. These experiences will influence their evaluation of the prospective quality of life for their offspring. However, the results of these assessments can be quite different, even in the same family, as we can see from Marie and her mother Sue. Without an objective reference, we cannot decide whose estimate is "correct," Marie's or Sue's. Perhaps there is nothing—no instrument or system—that is adequately able to provide an objective and accurate quality-of-life estimate.

In the face of this substantial ethical uncertainty, we have no other choice than to proceed to the formal question: Who shall decide about the continuation of the pregnancy? Certainly, the pregnant woman—in this case Marie—must have the final decisional authority. Is this decision the end of the story? Probably yes, but there is still some more to say about the process that takes place before we reach the end. Marie's ultimate decision will be informed not only by her own experience but also by the genetic counselling she receives from Dr. Berkman. This brings us to question of how dominant of a role a genetic counsellor should play. There is wide agreement that genetic counselling should be non-directive and ought to promote the client's reproductive autonomy. But autonomous choices must be informed by professional knowledge and other arguments that might influence the client's decision. This is the challenge of genetic counselling: how to provide full factual information and support the difficult decisions a patient faces without making explicit (or implicit) value judgements or directing the clients to a preconceived opinion. The guiding question should be: what decision is in the best interest of the unborn child all things considered? In my opinion, the burden of the disease on other family members or on society should only play a minor role in the decision. Even if we personally think that carrying the HD gene is not an ethically justified reason for abortion, we should grant the pregnant woman (together with the future father) the decisional autonomy about continuing or terminating the pregnancy.