🧬 PART NINE ETHICS

27 ETHICAL ISSUES Our focus in this book is largely on the biology of chromosomal defects and the reproductive implications that they may entail. Certain bioethical issues coming to be more formally defined in the late 20th and this century do, however, demand attention. Counselors must hold fast to these requirements: (1) that they act beneficently toward their patients,1 and (2) that they strive to make their services accessible to those who may need them. NONDIRECTIVE COUNSELING In a Western ethos, the counselor is enjoined to respect the autonomy of the client, and this largely translates into the principle that counseling be nondirective. The principle may be more honored in the breach than in the observance, as Chańska and Grunt-Mejer (2022), in a Polish setting, discuss. In China, Dong et al. (2023) point to a need for education in this respect, as demand for genetic counseling “soars”; and South African counselors may struggle to adhere to the desideratum of nondirectiveness (Scott et al. 2024). Rentmeester (2001) comments that since it is “impossible for human language to convey facts purely, without any spoor of values,” and since “risk cannot be appreciated without consideration of values,” it is neither helpful nor indeed possible to try to be value-neutral. There is a fine line between directive and detached counseling, a point well illustrated in Karp’s (1983) deft essay, “The Terrible Question.” Ingelfinger (1980) comments, admittedly in a somewhat different context: “A physician who merely spreads an array of vendibles in front of the patient and then says, ‘Go ahead and choose, it’s your life,’ is guilty of shirking his duty, if not of malpractice.” Rentmeester (2001) offers the refreshing advice that it is not necessarily unprofessional to answer a patient’s question “What would you do?” It is the skill of the counselor that helps clients reach the decision that is, for them, the right one, and for the clients to feel satisfied that they have done so. How to balance nondirectiveness, while at the same time ensuring that patients do not lose an opportunity to achieve their best outcome, is outlined in Resnicow et al. (2022). “GUILT” IN A CARRIER Parental testing is often done in the case of a child having been diagnosed with a chromosomal abnormality, and occasionally one or other parent will be revealed as a balanced translocation carrier. Sometimes a chromosomal diagnosis may be made in an 1 There seems no completely satisfactory word to use here, and we variably write of patients, clients, counselees, men and women, people, and “those whom we see.”

808  ETHICS older child or even an adult, where the parents will have held for years to the notion that obstetric misadventure, or a virus, or some other blameable event was the cause of the child’s condition. Some people find it upsetting to have to readjust or to know that they may have been the source of the abnormality. They are likely to use words such as guilt, blame, and fault; others may approach the situation pragmatically (Kaneko et al. 2015). Helping these people to adjust to the new knowledge is a challenge for the counselor. TESTING CHILDREN To state the obvious, familial rearrangements are familial. It is very natural that parents would be concerned whether children they already have might be carriers, once an abnormality has been identified in one of them. Children, certainly, need to know their carrier status sooner or later. It is very unfortunate (and possibly creates an exposure to legal redress) if a failure to transmit information leads to another affected child unknowingly being born elsewhere in the family. Burn et al. (1983) reported a family with a translocation having been the cause of cri du chat syndrome in two generations, the genetic information not having flowed through to the people who really needed to know it. We have had a similar experience: a family with a t(4;12), concerning which we had gone to the lengths of deriving and publishing a recurrence-risk figure (Mortimer et al. 1980), and yet this information not traveling with a young man who had moved as a child from one country to another, and whose life was since changed by having had a daughter with partial 4p trisomy. On the other hand, genetic counselors are attuned to the principle of not taking away a child’s right to make, in the fullness of time, his or her own informed decision to learn about genetic risks he or she may face; thus, the principle is that the child’s future autonomy is to be respected. The American Society of Human Genetics and the American College of Medical Genetics (1995) have determined that “timely medical benefit to the child should be the primary justification for genetic testing in children and adolescents.” And, it is true that a balanced chromosomal rearrangement will have no influence upon a person’s physical health other than, in due course, his or her reproductive health (and the issue is thus to be seen in a different light than testing for adult-onset disease). Questions are raised that testing could damage a child’s self-esteem, distort the family’s perceptions of the child, and have adverse effects upon the child’s capacity to form future relationships (Clarke 1994). In France, testing a healthy child for the possibility of inheritance of a parental chromosome rearrangement may be unlawful (Hervé et al. 2015). Parents’ views are not without validity. Clayton (1995) commented that there is the possibility of conflict with parents as physicians come increasingly to act as advocates for the child’s interests, but notes further that “children are generally ill-served if their parents feel they have not been listened to.” She also draws the conclusion that this is a medico-ethical rather than a medico-legal issue. Vears et al. (2016) offer a similarly nuanced view. McConkie-Rosell et al. (1999) sought opinions from a group of 65 parents of fragile X children attending a national conference in Portland, Oregon, in 1996. They noted a “strong belief in a parental right to make the decision regarding carrier status in their children,” with about half considering that they should have the right to decide when their child should be tested and informed of the result. The Genetic Interest Group in the United Kingdom gently chided the profession in commenting that “the vast majority of people are better able to understand the implications than they are often

Ethical Issues  809 given credit for” and has enunciated the following principle: “After suitable counseling, parents have the right to make an informed choice about whether or not to have their children tested for carrier status. Ideally, children should only be tested when of an age to be involved in the decision” (Dalby 1995). It may be that earlier concerns overstated the potential for harm. At least with respect to the Mendelian cancer-predisposing syndrome familial adenomatous polyposis, children having undergone predictive testing and receiving a positive gene test result experienced no increase in anxiety, depression, or loss of self-esteem (Michie et al. 2001). Indeed, Robertson and Savulescu (2001) see potential benefit to the child, and they support the view that as a general rule the parents’ views should prevail and a request for predictive testing be respected. There is also the practical point that many parents will have had a prenatal karyotype from amniocentesis or chorionic villus sampling for one of their children-to-be; and it may not seem entirely logical to decline to test their other post-natal children. In an analogous Mendelian case, X-linked Duchenne muscular dystrophy, Helderman-van den Enden et al. (2013) go so far as to state “it is cruel to subject the parents to an ordeal, lasting years, with this dilemma [of their unborn or infant daughter possibly being a carrier].” Perhaps counselors’ misattributed understanding of their clients’ motivations may be hindering good communication (Vears et al. 2017). From the foregoing, we conclude that a flexible stance is appropriate. Many parents will be satisfied (and possibly relieved) with the advice to leave testing until the child can decide. Equally, there will be occasions when acquiescence to a parental request is reasonable. Either the parent’s mind is set at rest, or they know of the need to raise the issue with the child at a “suitable age,” which should be with the assistance of the genetic counseling clinic. Bache et al. (2007) found that 9% of carriers in Denmark identified in childhood (or prenatally) had not been told as young adults; this observation led to a change in practice in that country, with a reminder letter being sent to the parents when their child reached the age of 18 years. The task for the counselor is to assist parents in deciding what age would be suitable for their child, and to convey the information in such a way that concern for the future is kept in perspective and the child’s self-confidence is kept intact. And, the pragmatic imperative: the wish to avoid family distress due to avoidable births of abnormal children in the next generation, as outlined above. FAMILY STUDIES More widely, the parents’ siblings and cousins could be carriers. Grandparental karyotypes may be useful in knowing which branch of a family to follow. The rights of individuals could potentially clash with the obligation that flows from belonging to a family: “No man is an island, entire unto himself,” and some may see altruism as a duty. Austad (1996) proposes that the family’s right to know about “sensitive genetic information” should take precedence over the individual’s right not to know. He considers it “alarming to use the principle of autonomy to renounce the co-responsibility for others, in this case, relatives”; he goes on to state that “we cannot exclude ourselves from the genetic fellowship of fate into which we are born.” Suslak et al. (1985) note that family members do not necessarily take on the responsibility of conveying information, and propose that counselors “may have a duty to transmit such information to at-risk relatives in light of the harm that may occur when information is withheld.”

810  ETHICS If counselors take pains to provide clear information and to do so sensitively, such studies should usually proceed without unfortunate consequence. A suitable approach in most families will be to ask the person coming to the clinic to take the responsibility of bringing the matter to the attention of relatives, with appropriate support from the counselor. A letter couched in terms that could be shown to other family members, and providing contact points for further information, is often useful. Forrest et al. (2007) reviewed many international sources and identified the following criteria seen as common obligations falling to the families and to the counselors who see them: (1) Individuals have a moral obligation to communicate genetic information to their family members; (2) genetic health professionals should encourage individuals to communicate this information to their family members; and (3) genetic health professionals should support individuals throughout the communication process. (We would add a caveat, now that microarray analysis has become the norm: The uncertainties of interpretation of many CNVs seen in routine clinical practice can complicate “cascade testing” to a degree that the exercise may become counterproductive and unhelpful.) A more controversial question is whether genetic information can be disclosed by health professionals without patient consent, a circumstance that brings the duty of care of health professionals into conflict with privacy laws and professional regulations. The commonly held view is that such disclosure is appropriate when the genetic condition is severe and the information is actionable (Phillips et al. 2021a); however, whether actionability extends to reproductive implications (for example in the setting of a familial translocation) is less clear (Meggiolaro et al. 2020). PREDICTIVE GENE TESTING: DELIBERATE AND INADVERTENT Counselors are very familiar with the concept of predictive genetic testing—that is, offering genetic testing to people who are presently well but who are at risk for having inherited a particular genotype that may, at some stage in adult life, be the basis of the onset of disease. Its widest application is in the fields of cancer genetics and neurogenetics. With respect to rare translocations in the balanced state that may confer a predisposition to cancer, mention is made on pp. 781–2 and, over and above the reproductive implications of individuals being tested in such families, a cancer-associated risk will need to be assessed. As for inadvertent testing, we may mention a 30-year-old woman we have seen, presenting with premature ovarian failure and having a karyotype to check for an X chromosome mosaicism but in whom trisomy 8 and a 14q;18q translocation were seen in 3/ 100 cells. She was otherwise in good health. This may well have been an “accidental” very early diagnosis of a lymphoma, and referral to a hematologist-oncologist—which was more than she had bargained for by having the test—was duly arranged. Nevertheless, although advice about a cancer risk may come as an “unwanted surprise,” discovery of a chromosomal predisposition may in fact be lifesaving (Heald et al. 2007). With the increasing application of microarray technology, the likelihood of discovering an incidental abnormality may now more frequently need to be taken into account when a chromosome test is ordered. We mention on pp. 446 and 454 the 17q21.31 and 21q21.3 duplications which may be the basis of a familial dementia. Schwarzbraun et al. (2009) report their experience in testing a 7-year-old girl with severe intellectual

Ethical Issues  811 disability and mild dysmorphism, in whom microarray revealed a de novo microdeletion (774 kb; containing 47 genes) at 17p13.1, and this deletion was presumed to be the explanation for the clinical picture. One of the deleted 47 genes, however, happened to be TP53, and thus this deletion was considered effectively to represent a germline Li-Fraumeni2 mutation. This was quite unanticipated information for the parents to deal with, and the issue was further complicated by the child’s mental incapacity. Schluth-Bolard et al. (2010) consider this question, and they write: . . . the local Ethical Committee at the University Hospital of Lyon, France, suggested implementation of a plan to inform patients and their parents on the possibility of discovering pathology unrelated to mental retardation, and give them a month to carefully ponder on the possible consequences before signing the consent for study. More pragmatically, they continue: If this period of reflection would be difficult to apply in clinical practice, the possibility of incidental findings should be discussed during pre-test counseling and information should be given during post-test counseling by a trained clinician, aware of the potential psychological impact of such findings. Noninvasive prenatal testing (NIPT) may lead into unanticipated ethical minefields. An occasional inadvertent cancer diagnosis may be made (Dow et al. 2021). In a case reported in Sun et al. (2015), massive copy-number gains of chromosome 21 and some other chromosomes were observed, completely different from what would be seen in fetal trisomy; and in fact, the diagnosis was recurrence of a follicular lymphoma. Meschino et al. (2016) report the case of a woman who had had NIPT for trisomy 21 due to the ultrasound detection of two “soft markers” for Down syndrome and who also, as it happened, had a family history of early-onset Alzheimer disease. A dup(21) was identified, which included the Alzheimer-associated APP locus at 21q21.3 (but not the Down syndrome critical region). Thus, she and her unborn child had had an unwitting predictive genetic test for a dominantly inherited dementia (p. 454). Further to complicate the story, she had an identical twin sister. Meschino and colleagues debate the complicated issues that arose from this case, and they, along with Dow et al. (2021), rehearse lessons to be taken for those in the field. THE STATUS OF EMBRYOS AT IN VITRO FERTILIZATION Lejeune, the discoverer of trisomy 21, has commented and indeed provided extensive testimony on the ethical distinction between abortion and discarding an unwanted embryo. At a famous 1989 court case dealing with a dispute about IVF embryos in Blount County, Tennessee, he insisted on the point that human life commences at conception, and therefore that disposing of a zygote is in essence no different from the induced 2 Li-Fraumeni syndrome is a dominantly inherited cancer-predisposition syndrome due to TP53 germline mutation, with severe implications. The cancers include soft-tissue sarcoma in early childhood; in later childhood, osteosarcoma; and in young adulthood, breast, brain, and hematological malignancy. It is controversial whether medical surveillance should be offered in childhood.

812  ETHICS abortion of an established pregnancy. A similar view has come from Alabama, and the concept of “extrauterine children” has been proposed, with one Justice referencing the “theologically based view of the sanctity of life adopted by the People of Alabama” from which it follows that “life cannot be wrongfully destroyed without incurring the wrath of a holy God” (Feinberg et al. 2024). Thus, providers of IVF in that state potentially could find themselves in the position of being charged under the Wrongful Death Act if stored embryos were allowed to succumb. One Catholic thinker is of the opinion that “human personhood” of the embryo does not inhere until the stage at which embryonic cells have differentiated and the primitive streak has appeared (at about the end of the second week post-conception) (Ford 1988). Prior to that time when the “pro-embryo,” as he prefers to call it, is only a personne en devenir, “we should resist the conceptual and linguistic temptation to attribute an unwarranted ontological unity to an actual multiplicity of developing human blastomeres.” More liberally, Isaacs (2002) discusses the concept of a continuum in which the “moral status” of the fetus increases in value through pregnancy (and indeed after birth); and some couples seem intuitively to follow this line. Thus, the moral arguments of Lejeune and the Alabama legislature are not necessarily seen as convincing to those pragmatic couples who choose to have preimplantation diagnosis in order to avoid the predicament of having to decide upon a course of action following prenatal diagnosis of a chromosomal abnormality at chorionic villus sampling or amniocentesis. Molecular methodologies, as we have already had cause to comment, bring with them ethical challenges. In a paper memorably titled “Embryos Without Secrets,” Hens et al. (2013b) consider the new dimensions implied by the new methodologies. They conclude that microarray and potentially whole genome analysis may be a double-edged sword in the hands of those providing PGT, and they call for more discussion about “who should have the final say on which embryo to select.” An embryo can be seen as a future person, and that being so, Hens et al. (2013a) point to an onerous responsibility upon the PGT clinician. These authors, while acknowledging the “principle of procreative beneficence” put forward by Savulescu and Kahane (2009), who consider that couples have a moral obligation (if reasonably feasible) to select the embryo whose life can be expected to be best, point out that the situation may not necessarily be straightforward. And in this 21st century, it may seem almost normal that artificial intelligence (AI) is being proposed as a means to select the best embryo (Afnan et al. 2021). The counselor working in an IVF clinic will need to keep abreast of these complex questions and to be aware of the vulnerabilities of the presenting couples. PRENATAL DIAGNOSIS AND PREGNANCY TERMINATION FOR A CHROMOSOMAL ABNORMALITY Prenatal diagnosis of a chromosome abnormality has been standard practice in many countries for half a century, initially via the methodology of amniocentesis and latterly based upon a maternal blood sample. Genetic counselors can have a key role in the implementation of such a service (Sánchez Marín and García González 2023). The level of acceptability of prenatal diagnosis, with termination in the case of a chromosomal abnormality having been identified, has largely plateaued in those jurisdictions in which the procedure is reasonably readily available. In Denmark, for example, over the period 2008–2021, the total numbers per year of terminations for an aneuploidy (mostly Ethical Issues  813 trisomies 13, 18, and 21, and sex chromosome aneuploidy) showed only the slightest increase. On the other hand, terminations for deletions and duplications rose substantially in the mid 2010s due to the introduction of methodologies capable of detecting these defects (Figure 27–1) (Raaby et al. 2024). Legal barriers may arise in some jurisdictions. Abortion in Chile, formerly “allowed under no circumstances” (Casas and Vivaldi 2017), was the subject of legal review in 2017, with new legislation proposing decriminalization on the grounds of, inter alia, “an embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb.” The genetic branch of the Chilean Society of Pediatrics suggested changing the wording to “a congenital anomaly of poor prognosis,” among which they would include trisomies 13 and 18 (Pardo Vargas et al. 2016). In the United States, as Miller et al. (2000) commented, “there is perhaps no more divisive subject than abortion,” as we now see in the 2010s–2020s. We have referred above to Alabama. A color-coded map illustrated on the website of the Center for Reproductive Rights shows state differences across the USA, on a scale from liberal through absolute prohibition. A review from 2023 comparing Down syndrome birth rates over the timeframe 2011–2018 in American states that did or did not impose a 20-week gestation abortion limit showed, unsurprisingly, a higher DS incidence in the restrictive states (Chaiken et al. 2023). Donley (2013) contends that such bans are in fact unconstitutional, and the interested reader possessed of a legal-oriented mindset is referred to her detailed and finely argued essay. Figure 27–1.  The numbers of terminations in central Denmark over the period 2002-2021, for the indications of an aneuploidy (upper line), and for a deletion or duplication (lower line). Note: The baseline birth rate in this population is c. 14,000 per annum. Termination on the grounds of a fetal abnormality is available from 12 to 22 weeks gestation, but requires approval from a local Regional Abortion Council. Source: From L Raaby et al., Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality? Prenat Diagn 44:280–288, 2024. Courtesy L Raaby, and with the permission of John Wiley & Sons.

814  ETHICS If prenatal testing is not made available, or if an abnormal result is reported but has not been passed on to the parents, the option of pregnancy termination is denied. Here, the legal concept of “wrongful birth” may be invoked. Frati et al. (2017) define this as referring “. . . to claims for alleged negligence where an opportunity has been lost to parents to terminate a pregnancy. These claims are often related to undetected fetal abnormalities, and involve a claim for damages by the parents of a child for, most importantly, the costs of bringing up the child.” (This is to be distinguished from “wrongful life,” or “the right not to be born”; Weber, 2001)3 French courts made landmark decisions in 2000 and 2001 in which substantial financial compensation was granted to parents of children with Down syndrome. Whatever the legalities, the lesson for the counselor is that testing should be offered to those for whom it may be appropriate and legally available, and that they should be diligent and careful in ensuring that prenatal testing results are safely conveyed to the right person. Intellectual Disability and Genetic Abortion Intellectual disability is a condition for which many parents are unwilling to accept a significant recurrence risk—hardly remarkable, since intellectual function is such an obvious attribute of humanness. The great majority of those who chose to have prenatal diagnosis opt for pregnancy termination4 if a chromosomal condition implying major cognitive impairment is identified. Some for whom abortion is not acceptable may nevertheless choose prenatal diagnosis for reassurance or for the preparedness that certain knowledge can allow. Community views on intellectual disability are changing, and the late 20th century saw something of an exodus from institutions and from special schools as the intellectually and psychologically disabled joined the “mainstream,” some more successfully than others. Many syndromes, in this Internet age, have their own support groups, and these are often a source of advocacy. Counselors need to handle the tension inherent in these views and the views of parents who want to avoid having a disabled child; and the separate conflict that parents experience when a decision is taken to terminate an otherwise wanted pregnancy. As we discussed earlier, the doctrine of nondirective counseling is a central tenet of modern practice, and it is a test of counselors’ professionalism that their own views not unduly influence the advice and counsel that they give. De Crespigny et al. (1998) document the experiences and comments of a number of couples in their book Prenatal Testing: Making Choices in Pregnancy, intended for the lay public. Walters (1995) and Tillisch (2001) offer personal perspectives. First, Walters: 3 For example, a claim for wrongful life concerning cri du chat syndrome was brought on behalf of the child in a legal case in Australia, whose birth followed a failed vasectomy (Watson 2002). The claim failed, the judge finding it impossible to compare and to place values on impaired existence versus non-existence. The concept of wrongful life is fully explored in Botkin (1988), but he sidesteps the central issue thus: “Is not a glimpse of life better than no life at all? I would not presume to answer these questions—the truth is that we will never know.” Differing views from different jurisdictions are outlined in Frati et al. (2017). 4 A sensitivity in discussing the choice of abortion may be discerned in the following conversation with her genetic counselor that Urquhart (2016) had: She writes: “ ‘What about cases where people want to change the management of their pregnancy?’ I asked, using the euphemism for abortion I had learned during our counseling sessions, ‘We would have to investigate other options,’ she said.” Ethical Issues  815 Defending the right of women who are carrying babies with Down’s syndrome to have abortions is not pleasant. Anyone who does so is likely to sound heartless, especially if they have no first-hand experience. It is even harder for me. I am the father of a Down’s syndrome baby. . . . It is the most painful thing I will ever say but my wife, Karen and I, wish she had had a test. If she had, we would have terminated the pregnancy. I must be a callous swine, mustn’t I? . . . Her birth was a tragedy, but not so different to any tragedy that can strike out of the blue, such as a crippling accident. Just as we work to avoid other tragedies, I see nothing wrong in using Down’s tests to avoid the tragedy of human handicap. . . . I know that I would rather not have existed at all than to be, like her, sentenced to a life of confusion, frustration, pain and possibly loneliness when Karen and I are gone. If I feel guilt, it is that I was responsible for her birth. To me that guilt is far worse than anything I would have felt had I prevented it. Tillisch is the mother of a child with the del(1)(p36) syndrome (p. 376). Anomalies had been detected on ultrasonography during the pregnancy, but an amniocentesis returned a normal cytogenetic result. The child had a stormy neonatal course, and in due course the chromosomal defect was identified. Tillisch writes: I’m so thankful that the amniocentesis results were inaccurate. Since we didn’t learn of Kasey’s diagnosis until she was 9 months old, we were able to get to know, love, and admire Kasey as an individual, as our daughter. We didn’t allow doctors to define her for us. . . . From a mother’s perspective, Kasey’s future is bright. She receives treatment and will soon go to a public school. We will allow Kasey to show us her potential, rather than labeling her “severely mentally retarded” and casting her off to be locked away from society. . . . My father once asked, if I could ever make Kasey “whole,” would I? Without any hesitation, I answered: absolutely not. Adding the missing genes would make Kasey a different person, a stranger. These differing, one could say polar views of parents find some parallels in the positions of those whom we could consider as the philosophers of our profession. Lejeune, in a provocative address to the American Society of Human Genetics in 1970, deplored the application of his original cytogenetic discovery to the prenatal diagnosis of Down syndrome. Epstein (2002) reflected some three decades later upon Lejeune’s influence, and while not stepping back from the standpoint that prenatal diagnosis is a proper and valid medical procedure, he does acknowledge (as must we) that a plurality of views exists, and that the genetics community must be sensitive to and must respect the range of views in the community. Brock (1995) discusses the philosophy of “wrongful handicap,” addressing the question of whether not producing a child who would suffer has harmed that potential child, and he enunciates a principle that individuals are morally required not to let any possible child for whose welfare they are responsible experience serious suffering or limited opportunity if they can act so that, without imposing substantial burdens or costs on themselves or others, any alternative possible child for whose welfare they would be responsible will not experience serious suffering or limited opportunity.

816  ETHICS This position (somewhat reflecting that of Savulescu and Kahane, 2009, above) could be seen as providing an ethically based framework for making a decision to terminate an abnormal pregnancy, and to conceive again. There are some subtleties in the choice of language when fetal anomalies are uncovered by ultrasound, as De Crespigny et al. (1996, 1999) discuss. We speak of the pregnant woman as a mother, yet she is not; neither is her husband/partner as yet a father. Equally, the fetus is not a baby, not acquiring that status until ex utero existence is achieved. But of course many parents-to-be, not to mention professionals, use these words. Counselors should be sensitive to these subtleties. De Crespigny observes that if an ultrasonologist should discover a fetal defect, using the terms “baby” and “mother” may exert indirect pressure on the couple to continue the pregnancy: And yet, on the other hand, many women regard a fetus as a baby from the very beginning, others will be affronted if their doctor does not seem to recognize this difference between a fetus and a baby, which they may interpret as interfering with the pregnant woman’s reproductive freedom. As always, counselors will need to know their patients and to judge the right words to use and the way to say them (Benkendorf et al. 2001). In recent years there has been a move away from the traditional deficit-based approach in medicine toward having a focus that builds on a person’s strengths. Parents may feel that medicalized, deficit-focused language used in relation to their children overlooks their inherent value, and implies deficiency compared with children without disabilities. This, in turn, has negative impacts on the emotional well-being of children and their families (Strnadová et al. 2023). The counselor will wish to be at pains to adhere to this evolving principle. Uncertain Discoveries at Prenatal Microarray Conveying uncertainty is more difficult than giving definite information. Much experience has been accumulated in the decade or so during which microarray has become the main means of chromosome diagnosis, but not every microdeletion or microduplication is well understood. There is the complicating factor that some of these abnormalities may be pathogenic only in certain circumstances—that is, they can be nonpenetrant. This becomes a particular issue in prenatal diagnosis: If a microdeletion/duplication is a “new” finding and not listed in any database, what does one say to the parents? Brady et al. (2014) consider this question and come down in favor of not mentioning such discoveries, and they argue that rather than undermining parental reproductive rights, in fact this policy prevents giving a false sense of autonomy. Stark et al. (2013) and de Jong et al. (2014) reach similar conclusions. An alternative viewpoint is proposed by McGillivray et al. (2012), who suggest nondisclosure may smack of paternalism, notwithstanding the distress that an uncertain interpretation may bring to bear. Counselors are well aware of these challenges and controversies, and in a survey of US and Canadian genetic counselors, just over half had reservations about giving “ambiguous results” and saw this as an ethical issue (Mikhaelian et al. 2013).

Ethical Issues  817 PREGNANCY AND THE INTELLECTUALLY DISABLED One issue to test the caliber of the bioethicist (not to mention the counselor) is that of the rights of people with intellectual disability to have children (Elkins et al. 1986a). What of the person with Down syndrome, or some partial trisomy compatible with fertility, in whom a question of procreation arises? Zühlke et al. (1994) give an example in describing a man with Down syndrome who developed a relationship with a girl with intellectual disability living in the same house. She requested removal of an intrauterine contraceptive device, became pregnant, and the (chromosomally normal) baby was brought up by the maternal grandmother. A case in Queensland, Australia, of a couple both with Down syndrome wishing to marry and to have children, came to public attention in 2016 through a popular television program. On the one hand, the right of the disabled person to experience parenthood is debated, and the American Academy of Pediatrics Committee on Bioethics (1990) expressed reservation about the sterilization of women with intellectual disability on the basis of anticipated hardship to others. On the other hand, Gillon (1987) notes that other people have the option of being sterilized, and those with intellectual disability should have the same right. The Law Lords in Great Britain concur that sterilization may be in the best interest of the disabled person herself (Brahams 1987). Parizot et al. (2019) rehearse the evolving landscape with respect to persons with Down syndrome wishing to have children and possibly needing access to fertility treatment, given the sub/infertility associated with the condition. Many parents or guardians, not wishing to become “parental grandparents,” favor contraception. Although some regard hysterectomy as having the double benefit of ensuring sterility and facilitating personal hygiene, Grover (2011) highlights the availability of effective and less invasive options that have additional benefits, such that hysterectomy is rarely necessary. The High Court of Australia decided in 1992 that the parents of a disabled child cannot themselves lawfully allow sterilization but that a court authorization is required, and noted that this requirement “ensures a hearing from those experienced in different ways in the care of those with intellectual disability and from those with experience of the long term social and psychological effects of sterilization” (Monahan 1992). When a woman with severe intellectual disability due to a chromosomal defect is pregnant—or is pregnant by a man with disability, one or other of the couple having an unbalanced karyotype—and the pregnancy is recognized in time, the grounds for termination may be seen as substantial. The ethical issue arises over the difficulty (or impossibility) of securing the woman’s informed consent versus the expressed wishes of her guardians. Martínez et al. (1993) report from Alabama a mother with cri du chat syndrome, who was severely disabled and had no speech, pregnant by an unknown male; and “although pregnancy termination had been desired by the patient’s grandmother, social and legal limitations prevented access to this procedure.” Strnadová et al. (2022) review the wide range of reactions of people with intellectual disability to the question of whether they would like to have children, whether they would choose to have testing during a pregnancy, and how they might respond to the result, and note how this range of opinions mirrors that of the general population. Some less severely affected persons may not regard it as undesirable to have a child like themselves;

818  ETHICS on the other hand, they may recognize their own disability and not wish to pass it on. We may perhaps read this into the brief report of Bobrow et al. (1992) of a man with Down syndrome fathering a child, the mother having had first-trimester prenatal diagnosis (the baby’s karyotype was normal). There is the concept of imagining what a person with disability would want, were he or she intellectually competent to make a decision—a concept some would regard as paternalistic (and infringing personal autonomy) and that others might see as valid and common sense. The sociology rather than the biology will exercise the counselor’s mettle in this uncommonly encountered situation. Two approaches to a modification of genetic counseling for those with intellectual disabilities have been described, and with respect to the particular example of Williams syndrome (Farwig et al. 2010). Watkins et al. (1989) teach basic facts to the counselee, using simplified language and repetition as needed. In discussion, they use yes/no rather than open-ended questions. In contrast, Finucane (1998) takes a psychosocial approach in which a more conversational style, focusing on feelings and attitudes, takes precedence over the provision of facts. She argues that most individuals with intellectual disability reason concretely (in Piagetian terms, are in the preoperational or concrete operational periods of development, rather than in the formal operational period), do not understand numbers or quantity reliably, and tend to act egocentrically. She advises that it is important for the goals set by the genetic counselor to be limited, specific, concrete, and related to the reason for referral. The other party is the child. Is having good parenting a right? What of a child with normal karyotype born, for example, to a man carrying a dup(10)(p13p14) chromosome and a mother with idiopathic intellectual disability? How can the interests of the child and of the parents be resolved? This is an actual case that we have seen (Voullaire et al. 2000a): It was quite poignant as this man with mild disability, who had some insight into his own disability, struggled to understand how best he might be a father to his 46,XX baby and expressed sadness at the abnormal behavior displayed by his older 46,XY,dup(10) child. The capable and willing grandmother stepped into the breach; but when the daughter is older, and assuming she is of normal intelligence, how will the realization of her parents’ abnormality affect her? Whether a child with normal intelligence in this sort of setting has a legal claim for “dissatisfied life” is an intriguing and as yet (to our knowledge) untested notion (Pelias and Shaw 1986). PARTICIPATION IN RESEARCH There is much yet to learn about clinical cytogenetics, and much of this cannot be done without patient participation (a rather obvious statement, and one that applies to medicine generally). It is, of course, well enshrined that patients who are potential recruitees should be fully informed of the implications for themselves of a study in which they might be invited to participate, and that they have the opportunity to decline without compromise of their own health care. Having made that point, one can see a reciprocity in providing a health care service: The patient who benefits (often at the expense of the state) could be seen as having a moral duty at least to consider an invitation to be involved in a bona fide research study. And having made that point, the reality is that rather often, patients are very willing to come forward, and they gain some satisfaction

Ethical Issues  819 in feeling that they may be making a contribution toward the greater good. The altruism gene shines brightly in many people. Rafii and Fortea (2023) propose that adults with Down syndrome would be willing to make themselves available for the study of anti-Alzheimer treatments, an approach that might prove of very wide benefit. Ramsay et al. (2009) examined the attitudes toward research participation of parents whose child had had an abnormality shown at prenatal ultrasound. To quote these authors: The balance falls between the possibility of causing upset to parents, particularly those with handicapped or ill children, and the possibility of gaining new knowledge that may prove important to parents deciding whether or not to continue their pregnancy after diagnosis of a fetal abnormality. Their study in fact demonstrated that . . . the great majority of respondents indicated they would be happy to be contacted to provide information on their children’s health and development. . . . Research ethics committees can be reassured that the risk of causing inappropriate and unnecessary parental distress by inviting them to take part in such studies is low. THE COUNSELOR AS ETHICIST From the foregoing, it is clear that the counselor must be well-attuned to the evolving landscape of what is regarded as proper ethical behavior. We do not, in this book, set ourselves up as moral arbiters; we can merely comment as we have above, that views change, practice matures, and counselors will, in simple terms, want to do their best by those they see in the clinic. APPENDIXES