Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing 1st Edition

CHAPTER 8

“Passing it On?”: Reproductive Choices

“Should I have kids, adopt, or abort?” these men and women repeatedly asked. They wrestle with difficult medical decisions about not only treatment, but reproduction as well—whether to have children “naturally,” or by screening embryos or testing fetuses. Diseases associated with a genetic marker differ from other disorders in posing stark reproductive choices: the possibility of eliminating the mutation from one’s descendants. But such removal, while offering potential benefits, also poses moral quandaries and the prospect of eugenics. How then do individuals face these conundra? How much responsibility do they feel to eliminate these mutations from future generations versus avoiding interference with embryos and fetuses, and what social, moral, and other factors are involved? As we will see, these reproductive choices can be shaped by prior decisions about testing and disclosure, and understandings of genetics, fate, and identity.

For several decades, prenatal testing has been possible for certain genetic markers of disease, using amniocentesis or chorionic villus sampling (CVS) of a fetus, followed by the option of terminating the pregnancy. More recently, preimplantation genetic diagnosis (PGD) has also been developed,1,2 in which mutation-negative embryos are implanted in the uterus (either with or without parents’ knowledge of their own genetic status). Patients who do not wish to know their own gene status are thus able to assure that they have a mutation-negative pregnancy,3 while not learning if they themselves have the mutation. Yet the medical treatments involved with PGD can be stressful.4

Reproductive issues have received some attention with regard to HD, but much less with regard to other disorders. For HD, individuals not at risk have thought that at-risk individuals should prevent transmitting the mutation to offspring. For example, 94% of Swiss law and medical students support the systematic proposal of prenatal testing for at-risk pregnant individuals.5 Of Mexican neurologists, psychiatrists, and psychologists, 38% thought that mutation positive individuals should not have offspring6 (though this study did not consider PGD). A study in three European countries found that most geneticists, obstetricians, lay individuals, and pregnant women would hypothetically undergo an abortion of a fetus with the HD mutation.7

However, in the past decade, rates of prenatal testing among at-risk populations have been found to be relatively low: 5%–25% in the United Kingdom8 and Australia,9 and approximately 18% in Canada.10In a French study of couples pregnant at the time of presymptomatic testing, 73% opted to continue the pregnancy, and only 9% opted for prenatal testing.11 Women more than men have been found to undergo predictive testing for themselves and to request prenatal testing.9,10

For HD, many at-risk individuals have decided to have children despite possibly carrying the mutation. In the Netherlands, for example, only 19% of at-risk individuals have had genetic testing done. Of these, 44% already had children.12 HD carriers, compared to noncarriers, may have fewer subsequent pregnancies.13,14 In Europe, for instance, one study found that 14% of HD carriers versus 28% of noncarriers had additional pregnancies.15 Among carriers, prenatal diagnosis did not occur in one-third of pregnancies. Among those who were motivated by family planning to get predictive testing, 39% of carriers versus 69% of noncarriers had subsequent pregnancies.15 Thus, test results may predict pregnancy decisions, although differences may arise between countries.

Possible reasons suggested for low uptake of prenatal testing include objections to abortion, hope that a cure will be found, avoidance or minimization of the issue, and desires to first seek predictive testing for the parent.9,16 Of note, Australian and Canadian reports above did not mention expense as a potential barrier. Indeed, such testing may cost much less there than in the United States.

Major ethical questions surface as to which genetic markers should be screened for using PGD or other prenatal procedures to avoid defacto eugenics.17 Controversies arise about embryo selection based on sex or inheritable deafness.18 Nondisclosing PGD presents additional ethical challenges, given that egg extraction is not entirely benign, and a large team of health care providers is involved in PGD, potentially challenging maintenance of confidentiality. Due to these concerns, at least one HD clinic has not offered PGD without disclosure.19 Yet the ways in which at-risk individuals actually view these issues have not been examined. In the future, individuals may seek “designer babies,” using IVF and testing embryos to select for intelligent, tall, or attractive progeny—though as of now, no markers have definitively or clearly been identified with these so-called desired traits.

In one of the only prior studies to look at reproductive issues among people with mutations, Claudia Downing,20 a psychologist, emphasized the importance of responsibility toward others as a factor in reproductive decision making about HD. But other concerns may emerge as well. Indeed, her data involved testing through linkage analyses that necessitated families acting together to arrange for prenatal testing.20 However, technology has since advanced to allow direct testing for the gene. Moreover, Downing presents three cases, but additional scenarios and conflicts may arise among other individuals.

With regard to individuals’ decisions about testing themselves for HD, “stages-of-change” models have also been suggested (e.g., that individuals enter a series of phases from precontemplation to contemplation to action).21,22With regard to reproductive decisions, individuals confronting mutations may undergo such a process, yet what exactly occurs during these stages remains unclear. Individuals may face conflicts and have to balance desires to act altruistically and responsibly toward others against wishes to follow their own needs.

Several critical questions thus remain: in making reproductive decisions, do at-risk individuals in fact balance responsibility toward others against alternative considerations and concerns, and if so, what, and how?

REPRODUCTIVE OPTIONS

The men and women here encounter a series of reproductive options, and usually make these decisions not unilaterally, by themselves, but dyadically, as part of a couple. Additionally, couples often make these reproductive decisions not in isolation, but with input from family members, friends, and clinicians. They feel responsibility toward others but differ in who these others are—parents, spouses, or future generations. Moreover, in each of these interactions, conflicts ensue. Even within the domain of “responsibility toward others,” multiple considerations exist and can compete.

These reproductive choices often prove to be among the most difficult that these individuals face. Tensions can emerge between individual desires and perceived responsibilities toward spouses, families of origin, current offspring, future offspring, and broader society. One’s own symptoms, family history, personal and religious views, and mutation status can strongly shape one’s attitudes. But these factors can also conflict.

For many, the key characteristic that distinguishes a disease associated with a genetic marker from another diagnosis is that the former can be transmitted to offspring at conception. As Beatrice, the math teacher with breast cancer along with her sister, but no mutation, said, “If it’s genetic, I’m more concerned, because I could pass it on to my two children. It’s not going to die with me. If you get hit by a bus, your disease stops there.” She therefore underwent testing.

Some differentiate between genetics and familial history, seeing the former as connoting a higher likelihood of transmission. “Before testing, I had a strong family history,” said Rhonda, the 31-year-old nurse with breast cancer who at age six had seen her mother die from the disease. “Now, I definitely have it, and can pass it on.” Individuals like Rhonda then confront stressful reproductive dilemmas.

HAVING CHILDREN

Most of these men and women have seriously considered having children, and have then had to decide how to proceed. Rhonda’s gene status changed how she viewed the prospect of offspring. She still struggles with this dilemma.

I think: fifty-fifty chance I pass this on. My mom was in her thirties, I was in my twenties. It occurs younger in every generation. Now patients are in their teens. The mutation is not enough to make me not have children in the future. But the future is far away. I can’t say for sure.

Others already had children before knowing about the risk of a disease. But many remain uncertain whether to avoid spreading the disease to other generations. Once they have developed serious symptoms, parents often choose not to have additional offspring. According to Benjamin, the engineer with Alpha and two young children,

Younger couples who already had a kid don’t know what to do about having other kids. Some of them just do. Sometimes they’re lucky, sometimes not. I don’t know anybody who had a liver transplant, and then a second kid — although I could see it happening.

HD, because it lacks any treatment, poses these issues most starkly. On the one hand, notions of responsibility toward others lead many at-risk individuals to oppose having children without first eliminating the possibility that these offspring may have the mutation. These patients feel they could—and should—help stop the spread of HD. Moreover, the parent may become sick, and not live long enough to be able to help offspring fully develop. At times, these concerns about dying and being unable to raise the child outweigh fears about transmitting the gene. As Evelyn, who had seen a psychic after her husband opposed her testing, said about her HD risk, “My biggest fear then was not, ‘What if I pass this gene to my child,’ but ‘What if I get sick before he’s old enough to take care of himself?’”

Still, others at risk for HD proceed to have children because of their own desires for offspring, or lack of knowledge about HD. At times, children are born at risk for HD because the infant’s grandparents had not disclosed the risk of HD to the parents. As Georgia, who has HD, said, “It was only three or four years ago that my mother first mentioned it to my brother and I. My brother already had a son.”

Individuals may also know that HD is in the family, but not think about the risks to future generations. Patty, who pushes her HD risk “under a rug,” said, “I never thought in terms of the disease being hereditary, and my children having the disease.” In part, she was single, 43, asymptomatic, and untested, and not considering children in the future or the potential impact of her risk on them. But the fact that the risk did not occur to her is revealing of the psychological disconnect that can exist.

Decisions to have children can be divorced from concerns about mutations. Some have children after being aware that HD is a risk, but before fully acknowledging it. Denial may operate here, in part because of desires to avoid confronting the potential burdens of the disease to oneself or others. Chloe, the 28-year-old asymptomatic and untested secretary who was terrified that she was turning into her affected father, said about her brother, “He didn’t know it was genetic. I don’t know how he didn’t know. How wouldn’t you know it’s genetic? He says, ‘If I had known that, I wouldn’t have had any kids.’”

At times, an unplanned pregnancy forces decisions of whether to give birth or undergo an abortion. As John, who dropped out of grad school, and later learned that he lacked the HD mutation, said:

My brother’s first child was a mistake. It was their anniversary, and they celebrated, had dinner, and had sex, and the condom broke. So they spent the whole night talking about what the hell they should do. They decided to take a day-after pill. Three months later, she’s pregnant — the pill didn’t work. They have the kid.

But they worry that the child may have the mutation.

After weighing the possibilities, Others have children, and consciously take the gamble that the child will be mutation-free. Children can bring joy and continue life, and hence be seen as helping the extended family, partly by compensating for deaths from HD. “We decided to have another baby,” said Evelyn, untested and asymptomatic. “It’s the best decision we ever made. He’s just brought a lot of happiness into my family since my dad died.”

The possibility that a cure may eventually be developed can further justify childbirth. “I want to have children,” said Tina, who told her future husband about HD on their first date and had no symptoms or testing. “If I do have the disease, hopefully by then there will be treatment.” Yet therapy may or may not be developed, prompting others to feel perplexed, anxious, and cautious.

Adoption

Those opposed to the possibility of giving birth to a mutation-positive child face several options, including adoption. Rather than hazard transmitting the gene, many try to adopt, though they then have to weigh varying options. Adoption might result from a sense of responsibility toward others (i.e., unwanted infants). In general, given large numbers of unwanted children in the world, to produce offspring oneself—regardless of genetic disease—may be seen as selfish. As Laura, the graphic designer with past depression, said, “there are babies in the world who need homes.”

With HD, too, many consider adoption. “If I test positive, I probably will adopt,” said Bill, the married salesman who fears he will develop HD because he resembles his dad, but who has no symptoms. “I would try and ‘make’ a baby’s life that someone else couldn’t take care of.”

The fact that parents with HD could die before their child reaches maturity also shapes these considerations of what is morally “better.” Adoption raises ethical questions of exactly how responsible to be to others: whether the benefits of giving an uncared-for baby a home for several years outweighs the possible moral objection that the parent may eventually become incapacitated and die from HD. Due to the threat of a parent’s eventual incapacity, Ron, whose brother committed suicide, said, “in certain states they won’t even let you adopt.”

Amniocentesis or CVS, and Abortion

Some individuals had, or would choose, amniocentesis followed by abortion of a fetus with a mutation. HD often presents these dilemmas most boldly. Walter, symptomatic but untested for HD, and on disability from his government job, said that his niece underwent such a procedure and “had an abortion. I go along with her on it: it’s her baby and her life.”

Though desires for an abortion can reflect responsibility toward a future child (ensuring that he or she does not have the mutation), many of these individuals nonetheless see termination of a pregnancy for this reason as morally problematic. Many draw lines as to what genetic markers justify abortion or not. Some judge that such termination was permissible for a very serious disease such as HD but not for many other disorders. “I wouldn’t recommend it for just any illness,” Walter added. “It has to be something as devastating as HD.”

Ori, the Israeli with breast cancer but no mutation or family history, would not abort a fetus for her disease but would do so for certain other conditions, such as Tay-Sachs, which has an increased prevalence among Ashkenazi Jews.

I don’t think I would kill for cancer, because it’s survivable. But if the child will die anyway, like in Tay-Sachs, then I believe that abortion is good. A rabbi I know insists on testing people for Tay-Sachs. He allows abortions when the child would die anyway.

As she suggests, clergy may also provide input, and at times mandate decisions. Moreover, the fact that her disease does not appear to have a genetic component shapes her view that abortion should not be performed for it. But patients with the mutation at times see these issues differently.

Family and friends can disagree as to what is morally permissible. For example, if both parents are sickle-cell carriers, dilemmas emerge of whether to try assaying the fetus. Roberta, the African American former nursing student who had breast cancer along with her mother, but has not been tested, faced this scenario in her family. Given the severity of the disorder, she would abort a fetus if it had full sickle-cell disease, but not if it only had the trait. She would want “to have a kid that comes out as much on top as possible. If it was just the sickle-cell trait, we’d work with it.” She would not abort for breast cancer, despite her family history, because she feels that treatment for that disorder is improving.

Regardless of their own moral qualms, many feel that the potential parents’ preferences are paramount. Yet these preferences can encounter complications. For a child with severe illness, not only the patient but the parents may face obstacles. Carmen, with breast and thyroid cancer and a mutation, said, “If I knew I’m going to bring a baby into this world and she’s going to suffer, I’d rather not have it. Because you suffer, too.” Though Catholic, her medical history leads her to support abortion in such cases.

Despite the disease’s severity, high penetrance, and lack of treatment, a right-to-life stance leads other people to oppose aborting a fetus even with the HD mutation. Concerns arise that permitting abortion for certain mutations would prompt abortions for other traits that individuals feel are undesirable—raising the specter of eugenics and, ultimately, Nazi Germany. As Tim, the Catholic lawyer with the HD mutation, but no symptoms, said,

You could test embryos and opt for a selective abortion, but I’m really Catholic. It just offends my sense of morality to decide which embryo lives or dies. It has the potential to become a human life. I just don’t think I could live with making those kinds of moral distinctions. I don’t feel it’s up to me.

Of note, he lumps together moral objections to selection of both fetus and embryo—seeing them both as steps toward eugenics.

Resistance to abortion because of HD also emerges because individuals with HD can still lead full lives before becoming ill. “My brother has HD, but is a beautiful human being,” said Bill, the salesman. “I’m taking care of him. He’s not draining society.” Yet Bill implies that the fact that his brother does not “drain” societal resources may affect this determination, suggesting that if his brother did use such resources, the moral equation might then shift in favor of abortion.

Even if pro-choice, some feel they would not undergo amniocentesis and abortion, due to wariness of eugenics. Many oppose the possibility of so-called designer babies, arguing that rejection of potential infants on genetic grounds violates something sacred. A sense of responsibility to the optimal health of one’s future children can also clash with broader moral qualms about the specter of eugenics, which may reflect responsibility to broader social equality. In deciding to have a child, many feel that a parent must be willing to accept the child no matter what. Childbirth should not be akin to ordering and returning commercial goods. As Bill added:

I disagree with: “Oh, this person’s going to have leukemia. Throw him out.” You were willing to take that risk by having a baby. You could die having a baby. If that baby is sick, you have it. That’s the decision you have to make up front. It’s not like ordering a meal: if you don’t like it, send it back to the kitchen. It’s not like buying a pair of pants: send it back and get something else. You have to accept what’s given to you, and make the best of it.

People can thus differ widely in perceiving responsibilities toward others—as mandating termination versus protection of a pregnancy.

In considering abortion, many of these individuals tend to draw on visceral moral feelings more than principles. They do not follow rigid dictates but consider the specific circumstances, implicitly or explicitly weighing various competing factors. Bill added,

Abortion for HD just doesn’t sit right with me. Not because the Church says abortion is wrong. It’s just not right. I’m not against abortion. A woman has a choice. But the choice is made based on her ability to provide for the child.

Opposition to abortion arises, too, due to the argument that one could potentially have been aborted oneself. “Just because I’m at risk for HD doesn’t mean I shouldn’t have been born,” said Evelyn, untested and asymptomatic. “What if my parents had detected it before they had kids?”

At-risk individuals justify decisions to have children who might have a mutation, responding to possible objections of not acting dutifully toward others. Despite being at risk of HD, they argued, one can still have a good life. “I’ve had a great life and wouldn’t change anything,” Jim, the physician with HD, added. “Even with HD. I don’t regret being alive.”

Others disagree, and believe in eliminating a serious mutation through abortion, though they have difficulty reconciling this stance with the fact that, following this logic, they themselves would not have been born. They cannot always reconcile these two opposing viewpoints. Jennifer, the 65-year-old schoolteacher who learned she had Alpha after her son was tested, said,

People shouldn’t have kids unless there’s a cure for Alpha. They could just test the fetus, and if it is positive, abort. Would people actually do that? I would, because for years I worked with handicapped kids. Someone could say that I would have aborted. How do I put those two together? I don’t. There is no right answer. It doesn’t make sense.

Of note, she does not appear aware of PGD as an option.

Principles of autonomy (the right to make one’s own reproductive choices) can also conflict with notions of beneficence (responsibility toward others). Many people distinguish between their own reluctance to undergo an abortion and a legal prohibition against anyone being able to do so. These individuals would choose not to have an abortion themselves, but think that others should be allowed to make their own choices, except for purposes of eugenics. This opposition to abortion often clashes with a pro-choice stance otherwise.

The possibility of amniocentesis followed by abortion arises for breast cancer as well, but is generally viewed less favorably, than for HD in part because the mutation is less penetrant and the disease far more treatable. Yet here, too, moral or religious objections could preclude abortion and thus amniocentesis. As a staunch Catholic, Beatrice, the Latina math teacher with breast cancer but no mutation, opposes abortion. When she had her two children, she even refused amniocentesis, though at the times of these pregnancies she was 36 and 38 years old—ages at which amniocentesis for Down’s syndrome may have been warranted.

Both times, I declined amniocentesis because I would not have acted on it. I do not believe in abortion. The second time freaked me out more than the first — thinking I got away with it once. My Ob/Gyn said, “Being 38, you’re at a higher risk. But if you’re not going to act on that information, don’t have it.”

She weighed the risks, but followed her moral beliefs, though anxious about the outcome.

Others remain unsure of what they would do if faced with this dilemma. Not everyone who would undergo amniocentesis assumes they would abort a fetus if it had a mutation. Presumably, physicians only recommend amniocentesis or CVS if a patient is willing to have an abortion. Yet at-risk individuals ponder and wrestle with hypothetical questions of whether, if pregnant, they would undergo amniocentesis and, depending on the result, abortion. People also recognize that over time their views might change. Chloe, the asymptomatic and untested 28-year-old secretary, who fears she is turning into her HD-affected father, said,

I think when I get pregnant, I’m going to test the fetus. I would just feel better if I knew. So our child, if he showed symptoms, wouldn’t have to think he was crazy, because we would know. But I don’t know if I would want to get an abortion. I don’t know if I’ll be able to do it.

Yet a child could be tested after, rather than before birth. She remains conflicted, in part because she does not know her mutation status. She wants amniocentesis because of her desires for information, but has moral concerns.

I’m pro-choice, but don’t know how I’d deal with it. Why would God give me a baby that had HD? Am I supposed to just abort it? At the same time, the only way we can stop the disease is not to pass it along.

She remains undecided as to how she would resolve this dilemma, balancing innate desire for knowledge and feelings that the knowledge could help her child against public health concerns that reflect broad social responsibilities toward others.

A few individuals would want amniocentesis not in order to abort the fetus, but only to prepare themselves psychologically for the child’s problems. Clinicians appeared to oppose use of the procedure for this reason, but patients at times remained undeterred.

Knowledge, even if murky, is presumed to confer power. As mentioned earlier, marketers of genetic tests may take advantage of this widely held assumption. Such testing is presumed to have benefits that it may not have. Through the course of evolution the quest for knowledge has offered selective advantages—but can now clearly pose disadvantages, too.

PGD

Given the moral difficulties posed by amnio followed by abortion, many consider PGD. Several interviewees screened embryos in this way—or knew those who had—and saw the procedure as advantageous. Others pondered it, or said they would potentially do so. Roger, tested for HD after having problems driving, said that his sister underwent nondisclosing PGD.

They take out and test 10 of her eggs, and find eight that don’t have the disease, in case she has it. But if she has it, they don’t tell her. Then they put the eggs back in, and don’t tell her if she has it or not. So she knows her kids don’t have it now, which is great.

The advantages of this procedure are clear: allowing couples to have children without the HD mutation, and without informing a parent if he or she has it.

Many individuals oppose abortion of a fetus because of a mutation, but would support PGD since it involves embryos before implantation. “I’m definitely pro-choice,” said John, who dropped out of graduate school and lacks the HD mutation. “But I personally would have trouble with abortion for HD. It would feel immoral. But with IVF, there is none of that.” He is pro-choice for others, but feels that to abort a fetus himself is wrong. Hence, as an alternative, PGD proves appealing. Not surprisingly, several people would consider PGD if they knew they were mutation-positive.

With Alpha, too, a few would use PGD. Yvonne, who had lung transplants and now wants to move south, feels that individuals should have the right to undergo PGD and abort a fetus because of this disease. She and others feel that PGD can ultimately help eradicate the illness. “They should get rid of this disease so no one ever has it again,” she said. Her own experiences as a caregiver for her severely ill grandmother helped mold her perspective.

Several African American women support the use of PGD for sickle-cell disease as well. Francine, for example, who saw breast cancer in her mother and has HIV, supported PGD to eliminate the disease: “They should be allowed to say: we want the egg that doesn’t have it.”

For breast cancer, too, several women would opt for PGD. Still, individuals drew careful moral distinctions: supporting PGD for diseases, but not for nonhealth preferences such as gender. Vera, the Asian executive with breast cancer and the mutation, said,

I would have my own embryos tested, but wouldn’t pick the sex. You shouldn’t be able to choose the sex. That sounds like so Nazi, so “concentration camp.” Then, you start discriminating against people who are mentally ill. I would have embryos tested just to make sure they’re healthy.

Many recognize the moral dilemmas involved, but feel that for medical problems the benefits of PGD outweigh these concerns. Still, logical paradoxes exist if one has the disease for which one would thus reject an embryo.

Given potential misuses of PGD that might border on eugenics, some try to differentiate further among disorders, but doing so is not always easy. Dorothy, the former TV producer on oxygen, sees PGD for Alpha as more subject to a patient’s discretion. “We should screen out things that cut your life short,” she said. “It’s a personal choice, but I wouldn’t wish Alpha on my worst enemy. You can’t lead a full, normal life.”

Given these competing moral, social, and psychological issues, others remain conflicted. As a lesbian lawyer, Karen is deeply concerned about discrimination and struggles with several competing issues regarding PGD for breast cancer.

All kids are going to have genetic frailties that interfere with the so-called perfect life — whatever that is. So the intellectual part of me says, “There’s no way I would test them when it doesn’t matter.” Who knows what treatment is going to be available in 15, 20, or 40 years? Then, part of me projects into being a parent, with a daughter who would get breast cancer, and I think, “How could I do this to her?” She’s going to be treated as being at higher risk for cancer. She’ll probably have an earlier baseline mammogram, and would need to be more careful, and aware at an earlier age than most of her peers.

Karen is thus torn.

Others remain more wary, not seeing PGD as a panacea or even a realistic possibility for them due to moral qualms as well as economic, psychological, and physical costs, particularly if more than one IVF cycle is needed. As John, himself without the HD mutation, said,

I have seen just how tough the in vitro process is — physically and psychologically—all the hormones you take . . . My sister’s boss tried three times and failed. My sister has witnessed very close-up how emotionally draining that can be.

The financial costs of PGD can be prohibitive, since insurance usually does not cover it. Patients, once they are aware of their genetic risk, may also be too old to realistically consider the procedure. Benjamin, the engineer with two children, said about a woman who wanted PGD for Alpha:

The insurance would not cover it. She was upset: $300,000 for a liver transplant, and $50,000 for IVF and screening. It’s available, but I don’t see it used too much. Most people who are sick are also not in the childbearing years.

High costs of PGD can combine with moral scruples to help make childbirth seem as if it is not meant to be. This sense of destiny and cosmic fairness in the universe suggests how metaphysical beliefs may lurk beneath these decisions. Laura, the graphic designer and environmentalist with no breast cancer but a strong family history and a mutation, said,

If no cost was involved, I still would not screen to make sure the breast cancer gene is not passed, partly because it seems unnatural. Even if I had that much money, I would have a problem with IVF. I don’t judge anybody who’s done it. But it’s forcing something that wasn’t meant to be. Children already out there need a home. If you have to try that hard to have your own offspring, maybe it’s a sign that it’s better to adopt. It’s not that I believe in destiny. But if you have to try too hard, you can jinx it.

She sees the “natural” as morally and medically better. If she had had the disease herself, perhaps she may have sought to prevent its spread—though that is not wholly clear.

For breast cancer, some are wary of PGD, too, because of the chance that endocrine treatments involved in IVF might increase risks of disease. “The hormones may put you at higher risk for developing new cancer,” Rhonda, the 31-year-old nurse with breast cancer and the mutation, warned. “They tell you to wait five years after you’re diagnosed to begin IVF.”

Many women who already had children would not want either to risk doing so again, or to have to consider PGD. Rhonda has met many fellow patients who were glad to have had a child, but who did not want to chance having another: “Knowing they’re BRCA1, or have had cancer, women say, ‘I’m lucky to have had one. I don’t think I’d risk passing it on now.’”

Still, despite the limitations, PGD can reduce anxieties—even if the technological details are not fully understood and instill moral concerns. As Simone, the 29-year-old bookkeeper, said, “it is all like Star Wars to us. But . . . the peace of mind is huge.”

Yet while some people are aware of PGD from film and articles in the media, not everyone knows of its existence. Many, particularly those at risk of diseases other than HD, are less cognizant of it. In response to a question about PGD, Laura, the graphic designer with a breast cancer mutation, asked me more about it.

Of note, people confronting the diseases here all supported the notion of PGD, but only those confronting HD had known of anyone who had in fact undergone the procedure for their disease.

NO CHILDREN

Given these complex moral quandaries, some are grateful, in retrospect, not to have had children. Yvonne, who underwent lung transplants, said,

I thank God all the time that I never had any kids. If I had kids, they’d most likely have this disease. I see people in my support group: the husband and two or three of their children have it. They already know the children are going to go through it.

ABSTINENCE FROM REPRODUCTION OR MARRIAGE

As we saw earlier, in discussing dating, the fact that marriage is linked to having children may contribute to some individuals with the HD mutation eschewing serious relationships altogether in order to avoid having children or confronting these reproductive choices. They feel they should not burden a spouse with potential limitations in abilities to have or raise offspring. As a result, some individuals with the mutation refrain from long-term commitments. Genetic risks of other diseases can also lead to avoidance of marriage and children. As Gilbert, the electronics factory worker with Alpha who had his children tested, confessed,

Had I known my wife’s history when I was dating her in college, I might not have gotten myself in as deep. Her father had manic depression. Her older sister committed suicide, and another one was hospitalized. My older son got my wife’s family genes. My younger son got myfamily genes, which were fortunately free of those problems. Everyone has something genetic. But you assess how dangerous you think it may be, what percentage chance your children will be afflicted. If somebody knows that I’ve got Alpha, and that having children is going to result in a carrier, they have to assess that—what the disease is likely to do over time, whether they want to be involved in that. There is no cure for Alpha-1.

Similarly, he would not have married a fellow Alpha carrier.

ROLES OF OTHERS

As suggested earlier, patients feel moral responsibility to a range of other people, and these obligations and inputs can collide. For instance, a spouse’s preference can conflict with an individual’s own sense of the best interests of a future child. Preferences of other family members (e.g., a sibling) or input from a physician (that a cure might be developed) can counter a spouse’s views. As we will see below, the outcome may depend on the nature and strength of each factor.

Members of a couple can disagree about these issues, clashing in their sense of responsibilities toward future generations and others. For instance, members of a couple can disagree about undergoing genetic testing before having a child. Evelyn, asymptomatic for HD, whose spouse opposed her testing, said,

I went back and forth with my husband. I kept telling myself: “I can’t have another baby.” We both wanted another child. But he said: we will not have another baby if you’re going to get tested first.

Her husband’s refusal to permit her to undergo genetic testing suggests the degree to which a couple can quarrel about these issues. Spouses can view these issues very differently from each other.

In a couple, power relationships may operate such that one member may overrule the other, who in turn may be forced to yield, or consider responding surreptitiously. Evelyn said about her husband’s desire to have another child without her testing:

He was so adamant! I was going to have myself tested, and if I came out positive, I was just going to say: No, we’re not having another one. I don’t know if I was going to admit I had the test. I never told my husband this, but I called [my OB]: “Can I come in for a blood test?”

While she felt compunctions about potentially passing on the mutation, he did not. Unable to reach consensus, she explored testing clandestinely.

At-risk individuals may believe that scientists will eventually develop treatment. As Evelyn said, “They swear that my children are not going to have to worry about it—that there’s going to be a cure.” Providers may not actually make such explicit assertions, but express optimism about the prospect of future treatment that individuals may then misinterpret.

Disagreements in a couple may reflect differences in not only desires for other children, but views of fate, morality, and the cosmos. Linda, the art teacher who abhorred the “HD nightmare” and tested mutation-negative, said that her husband wanted to risk having another child and felt they should not be too concerned about potential moral qualms.

While I was getting the testing, he was still saying he would be willing to have another baby without me going through with it. He thinks . . . you have to run a little rough shod over those kinds of things.

Doctors could impact these reproductive decisions in several additional ways as well, and could disagree with patients’ decisions. Linda said about her having a child before having tested for HD,

There was that awful moment when the doctor put two and two together: that we had had our son without having that test. I saw the look on her face. In a flash, I felt the full weight of her judgment: That I had done such a thing. That was excruciating.

In part, Linda felt rebuked because of her low self-esteem, and feelings of having deserved HD. Such perceived criticism engenders anger and, possibly, future secrecy. “Finally, I didn’t tell doctors the truth,” she added. “I wised up.”

For breast cancer as well, because of increased rates of recurrence, providers may implicitly or explicitly oppose desires to have children. Carol, who disregarded her boyfriend’s opposition to prophylactic surgery, said,

I would have loved to have had children, but it just wasn’t going to work for me. I was diagnosed at 30. The doctor said, because I had breast cancer, “You shouldn’t get pregnant.” Four years after the chemo, I actually did get pregnant. My doctor freaked that it would bring back the breast cancer. I had an abortion because everyone said I shouldn’t have a baby. There went my only chance.

She understood the doctor’s logic, but remained rueful and frustrated, given her strong desire for a child.

GUILT AND BLAME

Stresses arise concerning not only future reproductive decisions, but past ones as well. However, since what has already happened is too late to change, parents can end up feeling guilt and blame. As suggested earlier with regard to views of disease causality, occasionally, affected offspring do indeed blame their parents. Bonnie’s sister, who has breast cancer, faults their mother for the disease. As Bonnie explained:

They have a very complex relationship. “If Daddy didn’t marry Mommy, I wouldn’t have to deal with this.” I don’t feel that way. If Dad didn’t marry Mom, we wouldn’t be who we are. She thinks it’s solely genetic: that because my mom had cancer, my sister will. I don’t agree.

Bonnie’s sister needs to assign blame far more than does Bonnie, who has been disease-free. Causal understandings of a disease can thus also shape emotional responses to it, such as regret and culpability.

Parents may indeed feel very badly about having passed on a mutation. Chloe, the 28-year-old secretary who feared she was turning into her father, said,

My sister has three boys, and got HD, but says that if she knew then what she knows now, she would have gotten the test, and had an abortion . . . She feels guilty — like she passed it on to one of the boys. But there’s nothing she can do.

Those who have had children without testing may later feel regret about having done so, even though their children remain of unknown genetic status. Linda feels this way because she had a child before learning that she lacked the HD mutation.

I could not believe that I put my little boy at such a risk. I wanted to have another baby, and knew I could never ever do that again in the same way I had. It seems like the most irresponsible thing. At this point, since I had a child, I was determined to make sure I dotted every “i,” crossed every “t,” to make sure he was taken care of. I was no longer going to play so fast and loose. It was fine to do it with myself, but suddenly to have done it with him was unacceptable.

Yet outsiders, including members of the same family, may feel that such guilt is unwarranted, since the parents did not know of the danger.

Regrets may be stronger for HD, given its higher penetrance and lack of treatment, than for breast cancer or Alpha. Yet regret may nonetheless arise for these other diseases, too, in part because of the threat of a parent’s relatively earlier death. As Isabelle, the social worker with breast cancer and the mutation but no family history, said,

When I had cancer, it was the first time in my life that I said, “I wish I didn’t have kids.” Now, I don’t feel that way. But when I was in the throes of having cancer and not knowing, “Am I going to be fine?”, it was very scary . . . I thought, if I didn’t have kids, this would be a whole different experience.

The fear of possible guilt in the future if they had kids led some to avoid having children at all.

The guilt of having unwittingly transmitted the disease to one’s offspring can be overwhelming. Simone, the 29-year-old bookkeeper, said about her father, “When they told him HD was genetic, he couldn’t live with that. He lost all interest in living.”

Questions arise of whether one should feel guilt about passing the mutation on to one’s children. As we saw earlier, regarding blame, such guilt can persist even when it is seen as irrational.

Yet others feel that such genetic transmission is not culpable, since the tests are still new, and have only recently become available. Gilbert, the factory worker who might not have married his wife if he had known her family’s psychiatric history, nonetheless said about Alpha,

I don’t fault anybody for this. My parents couldn’t have known, because they didn’t discover it until ’63. So they didn’t have any informed basis on which to decide whether they should have children. So, I don’t wish that my father or mother had married somebody else.

The absence of knowledge confers innocence: he might have avoided marriage if he had known, but would not blame parents who had unwittingly passed on the disease.

Still, uncertainty hovers as to how future generations would view present decisions—the fact that tests now exist, but might not be used. Potentially in the future, children could blame parents for not having prevented transmission of a mutation—which further deters some interviewees from having children.

To blame parents was felt to be absurd, since disease is inevitable and parents transmit many genes—good and bad. Chloe, the 28-year-old secretary without HD symptoms or testing who feared she was becoming like her father, felt that he had nonetheless given her “a lot of other good stuff . . . Even though my life’s been a little rough, I still like my life—who I am.”

In addition, some avoid blaming parents because the latter experienced their own struggles and difficulties, and blame would thus be unfair. Perhaps disease transmission could have been prevented, but these parents faced other exonerating problems. Carol, with breast cancer and a mutation, was not angry with her mother or grandmother for transmitting their mutation because “they had really horrible lives.”

Others do not, in the end, fault parents, but the lack of a scapegoat can make a disease with strong genetic components harder to deal with. As Gilbert added about his Alpha,

I don’t blame my parents, but find this disease much more difficult to live with than something I caused myself. I would much rather have something that was my fault—because I’m willing to take the consequences of my actions. This is not my fault.

RELIGIOUS AND POLITICAL ISSUES

These dilemmas clearly relate to much broader religious and political views as well. Facing the terrible potential costs of these gambles, some seek spiritual consultation. Several simply decided that whether or not they got pregnant and had a child was God’s will—not theirs. Chloe said,

I don’t think God gives you anything you can’t handle. That’s why I don’t know if I could deal with an abortion—because why would He give me a baby that has HD if I can’t handle it? It’s just too much to think about.

Given the complexity of these issues, the feeling that what happens is “all in God’s hands” can offer sustenance. In part, for God to give Chloe a problem she could not handle would suggest that she was being punished—an idea that was anathema to her.

One’s own moral intuition can also mutually support or compete with one’s larger political beliefs. A sense of broader social responsibility can lead one to oppose having a mutation-positive child because of the eventual costs to society. “It seems unfair to ask people to forgo childbearing,” said Karl, who lacked the mutation. “But at the same time, you’re burdening society with people who are going to get sick.” Still, these men and women, despite or because of their varied and often confusing experiences, generally feel ill-equipped to comment adequately on these larger political issues. Karl concluded that those questions were “a little too big.”

CONCLUSIONS

These individuals face a range of reproductive dilemmas, balancing personal and moral factors. They confront quandaries of whether to get pregnant and deliver, have fetal testing and abort if the fetus is positive, screen embryos, adopt, or have no children. In confronting these decisions they weigh numerous colliding desires and concerns. A sense of responsibility can embody conflicting notions that have to be weighed against both each other and additional competing factors, posing one’s own needs and desires against those of spouses and larger moral concerns. Broader ethical issues and perceptions of the best interests of current or future offspring can clash. Thus, quandaries arise of how much and to whom to feel responsible, and whether one should end the spread of the disease or follow particular religious or moral dictates (e.g., about abortion). A schematic “model of responsibility” has been suggested in which, in part, one establishes oneself as a “responsible decision-maker.”20 Yet the men and women here highlight complex tensions that can be involved. Moral decisions are frequently disputed and murky. The perceptions of others may conflict with an individual’s own moral views.

Not surprisingly, over time, with each pregnancy, some individuals were uncertain or changed their perspectives—they may have taken a gamble with a first pregnancy, but subsequently became more cautious, using PGD or avoiding additional pregnancies altogether. Family members also frequently voice preferences and pressure individuals about these choices. Though the interviewees here are mostly pro-choice, many say they would not undergo abortions themselves, and have qualms about aborting a fetus because of a mutation. Thus, varying notions of social and moral responsibility lead to different pro-choice stances that are not always unequivocally pro-choice but depend on the specific situations involved. Many interviewees here are pro-choice but anti-eugenics, suggesting that social concerns about eugenics could outweigh feelings about autonomy and individual rights. Indeed, women undergoing abortions have been found to experience complex emotions related to socioeconomic status, self-efficacy, guilt, blame, and beliefs about the fetus.23

Individuals weigh pros and cons concerning their decisions, but moral values about eugenics and current and future children also influence these choices. While rational decision models have been put forth, the individuals here highlight key emotional, moral, unconscious, and imagined factors as well. A range of other social and psychological factors also affect whether these interviewees either seek or eschew information about their future children. A person’s earlier reproductive decisions may affect later ones, but sexual behavior is not always planned and reproductive decisions are generally dyadic, not unilateral. These men and women thus underscore the limitations of theoretical models in this area, and the need for developing appropriately nuanced understandings of these complex, multifaceted issues.

Decisions about conflicting ethical dilemmas are rarely a simple choice between good and evil, but more often involve weighing competing ethical goods.24 People have to balance responsibilities toward others against their own needs. The men and women here frequently have difficulty knowing how to resolve these conundra. Given the complexities of these issues, these choices may not always be consciously determined. Rather, some pregnancies occurred without planning, or before genetic risks were fully known or acknowledged. Unconscious psychological defenses such as denial can affect these outcomes. When couples disagree decisions may be deferred, one party may prevail, or a compromise may be reached. Notions of responsibility toward others are in part subjective, involving interpretations and applications of moral principles that can vary. Thus, though individuals may present themselves as acting responsibly,20 more complex and nuanced questions emerge here as well.

Several specific issues arise concerning PGD—the use of which appears limited by cost, and knowledge of its existence. The fact that not all at-risk individuals know about this procedure highlights the need for more education about it. Yet understanding such reproductive technologies can be difficult. PGD also remains controversial, and along with the use of other reproductive technologies—abortion and stem cell research, for example—has fueled intense political debate due to fears, religious beliefs, and moral objections. PGD has been outlawed or strictly regulated in several European countries,25and is debated in the United States.26 If use of PGD increases in the future, concerns arise that norms may change to the extent that its use may become expected. Some parents wonder if they will be blamed for not using this procedure and then having mutation-positive children. Individuals born with mutations for particular diseases may therefore encounter increased stigma.

In upcoming years, as more tests become available, patterns of and reasons for abortions may also change. Among multiple reasons for seeking abortion, women commonly mention wanting to postpone or stop childbearing, and socioeconomic factors. Only 13% of women in the United States in 1987, and 7% in Australia in 1992 cited the possibility of a fetal defect.27,28 Yet with the spread of genetic testing, that proportion may increase.

Awareness needs to increase of how reproductive decisions are made within the complex dynamics of couples. Most doctors would like to be involved in post-test counseling and support,29 but may not have the training or expertise to do so. Providers need to be able to raise and address these topics with patients and couples as part of medical care, and learn how to do so. Currently, doctors may work closely with only the one at-risk individual, yet spouses may disagree about these reproductive choices, posing dilemmas of how providers should address and mediate spousal conflicts. If a husband insists that an at-risk spouse not get assayed before becoming pregnant, should providers intervene and support the at-risk individual’s insistence on getting tested? If the disagreement persists, does the woman or the at-risk individual have more decision-making power, or should the decision be entirely mutual within the couple? Though the principle of autonomy can dictate that these choices be left wholly up to the individual, questions arise of whether providers have—or feel they have—ethical obligations in these decision-making processes, and if so, what. Dilemmas emerge of whether, when, how, and to what degree clinicians should inform at-risk individuals or encourage them to consider these various reproductive options. Arguably, genetic counselors and other providers should ensure that at-risk individuals are as aware as possible of the existence and availability of PGD.

More psychosocial services may help at-risk individuals confront these quandaries. The fact that these dilemmas can hamper at-risk individuals in entering or maintaining committed relationships further underscores the need for psychotherapeutic services to help in confronting these issues. Indeed, couples therapy may be helpful in decisions about not only genetic testing,30 but reproduction as well. Providers may focus on whether to undergo genetic testing—not how to make reproductive decisions. The Huntington’s Disease Society of America advocates a team approach, but it is not clear how these issues in fact get addressed: by whom, when, how well, and to what degree.

The fact that those with genetic disease may face obstacles in being able to adopt children poses important policy concerns. The 1994 Federal Uniform Adoption Act provided some general guiding principles,31 but gray areas exist in how agencies evaluate the physical and mental health of prospective parents. Anecdotally, at least some adoption agency application forms inquire about genetic disease in the family.

As whole genome testing becomes more prevalent, infertile individuals, without known genetic risks, who seek IVF, may be offered PGD as well. More genetic tests will surely become available—including those for incompletely penetrant diseases and genetic modifiers (which are normal variants but might influence treatment response or disease progress). Hence, these issues are becoming increasingly important, and these men and women underscore challenges that increasing numbers of others will no doubt one day face as well.