“As soon as they told me I had the mutation, I thought: now I’ve got to tell my family,” said Carmen, the Latina with both breast and thyroid cancer. “That was one of the hardest things I’ve ever had to do.”
People who learn that they have (or may have) a mutation face dilemmas of whether to tell others, and if so whom, when, and how. A person divulging his or her genetic risk to a family member is revealing that, in fact, both of them (as well as other family members) are at risk. Hence, the potential discloser must weigh whether this information will benefit or burden listeners, and how to proceed. Individuals must balance moral responsibilities to family members against potential stigma and misunderstandings of genetics, generating dilemmas of whether to tell parents, siblings, offspring, and long-lost relatives.
These disclosures are important, but have received little attention. Genetic test results, once divulged, can clearly affect families in many ways.1 In general, family members do not always communicate genetic risks to each other,2 but only a few studies have begun to probe these realms.
Many barriers exist.3,4 Families are intricate social units, varying in norms.2 Most people prefer to disclose genetic information to a family member themselves, rather than have it done by a doctor.5 Yet individuals tell selectively.2
Overall, disclosure may be associated less with medical than with familial, psychological, and social issues.6 Many patients do not inform all their at-risk relatives about chromosomal abnormalities,7,8breast cancer,9 or cystic fibrosis.10 With breast cancer, disclosure may increase with various factors, including age, past history of cancer,9 motherhood, higher distress,11 having older children, having more open parent-adolescent communication styles,12being a carrier,5,13 and seeking support and medical advice.5,13 Several obstacles may hamper disclosure of genetic risks to extended family members.14
But genetic disorders differ from each other in critical ways. One study explored disclosure among individuals with four genetic versus four nongenetic conditions, and found that these two groups generally did not differ—both groups objected to a doctor disclosing information without their knowledge to other family members.15 Yet in this study, the conditions explored were heterogeneous. For instance, HIV was examined as a nongenetic disease, though it evokes strong privacy concerns that can make it resemble genetic more than non-genetic disorders.
Earlier research I conducted on disclosures of HIV found that individuals vary in what, how, and when they disclose. Some people disclosed indirectly or in code (for example, by simply saying “I have some problems with my immune system”).16,17
Yet research on genetic disclosure has tended to examine whether, but not what, how, and when these divulgences occur. How individuals at risk view and experience these issues, and how feelings of guilt, fear, shame, or discomfort affect disclosures have received little attention. In contrast to many other disorders, genetic disease invariably affects other family members. These revelations may then have psychological implications that can shape subsequent health decisions. For instance, obtaining one’s breast cancer mutation results can profoundly affect family members,18 but psychological distress may decrease after disclosing to sisters and increase after disclosing to young children.5
The health belief model (which suggests that health behavior is shaped by perceived susceptibility, disease severity, and costs and benefits of the behavior19) may help make sense of decisions about genetic disclosures, but has not been examined in this regard. As we have seen, individuals often learn that they are at risk only when informed about it by family members also at risk. Thus whether, when, how, and to whom an individual discloses information within a family may shape whether, when, and how these members make choices about whether to pursue testing or have children, or disseminate the information further.
Erving Goffman has described how individuals with stigmatized conditions generally struggle to manage such information, which can be hard.20 But with genetic disease, individuals manage for others, too, information aboutthese others. The sociologist Talcott Parsons has also described the “sick role” as entailing rights and responsibilities, exemptions from certain duties, and obligations to get well.21 People at risk for genetic disease must choose, through disclosure decisions, whether to put others and themselves into the role of being at risk, and what that means.
Overall, I found that every disclosure involves intricate decisions of what, how, when, why, and whom to tell. These issues arose across all three diseases.
WHETHER TO TELL
Individuals grapple with whether the inherent nature of genetic information mandates that they reveal this knowledge to others, and if so, who. Many feel that obligations exist to disclose to family members because the information affects these others as well. Yet this assumption that disclosure is necessary quickly leads to complicated logistical decisions and risk/benefit calculations.
At one extreme, a few people keep the information almost entirely secret—even from immediate family members. “I’ve told nobody,” Simone, the 29-year-old bookkeeper with the HD mutation but no symptoms, said, “except my husband. Not my siblings.” But such nondisclosers tended to lack visible symptoms. Visual evidence of the disease could itself reveal the diagnosis.
Many hesitate to tell family members, and would do so only if the latter specifically asked or wished to know. But questions then arise of how that desire for the information, if present, would be ascertained. “I would only tell my mother, father, and sister if they wanted to know,” Karen, the lawyer, said about her potential BRCA.
Yet within a family, hiding information can be difficult, if not impossible.
Family members can also readily betray each others’ confidences. In families, norms operate about both maintenance and betrayal of secrets. Information can also be considered highly fluid, and leak. Francine, an African American woman with HIV whose mother had breast cancer, but who has not herself had symptoms or testing, said:
I have a family of big mouths—we’re going to talk. We can’t hold water for nothing. So I need to be very selective whom I tell. If we are told, “Don’t tell that person,” we won’t tell that person. But we’ll tell somebody else. That’s just the way it is.
These norms can be powerful, and hard to change.
WHAT TO TELL
These men and women wrestle, too, with dilemmas of what exactly to tell their families—from suspecting that they might have symptoms or the mutation (even if they have already undergone testing), to admitting that they had begun genetic counseling, or gotten the result.
Not all told when they merely suspected symptoms. “Do I want to trouble my mother and sister if I have a little twitch in my hand?” asked Oliver, who decided to get a PhD despite having the HD mutation. “Probably not, unless I was fairly certain.” He feared that such partial information could serve merely to unnecessarily frighten others.
Individuals may divulge only ambiguous or partial information. A person may say just that he or she had started the counseling process, or planned to do so. Though asymptomatic, Linda, the art teacher, had assumed she might have the HD mutation, and thus
didn’t tell anyone in my family except my little sister that I was testing. She knew I initiated the testing, but she had no idea how far along in the process I was. They thought I was still in the counseling session, though I’d had the blood drawn. I never told my mother or stepmother. The night I found out I was gene negative, I told them. I didn’t want anyone . . . watching for signs of how I was doing. I had gotten good at obfuscating things, which I was never good at before.
She wanted to give both herself and others time to get used to the potentiality of a mutation.
Some revealed only that a disease was a possibility—even if it had in fact been diagnosed. They might admit that particular symptoms had developed, but not mention the diagnosis per se. For instance, some said “ataxia” (i.e., problems walking), which was nonspecific, rather than use the label “HD.” Similarly, with Alpha, individuals may choose to admit merely to emphysema, rather than their genetic mutation, or they might mention the diagnosis as a possibility but not as confirmed. HD symptoms were purported to be due to multiple sclerosis, alcohol, or “nerves.” Families may even encourage and defend obfuscation and deceit. Silence can in fact generate lies, since family members may ask questions. Evelyn, whose husband opposed her testing for HD, and who then consulted a psychic, periodically visited an HD clinic with her affected mother to get information and support.
My daughter said, “Where are you going?” I said, “The hospital.” My kids know I come here. They think it’s for cancer: “I’m going on a test study for people who are caregivers for people who are sick.” There is always that little white lie.
As she suggests, lies vary in size and degree—a “little” versus “a lot,” “white” versus “dark”—with different moral implications. A “white” lie suggests innocence and innocuousness—ostensibly making it less ethically problematic.
Though at first many try to hide evidence of a disease, at a certain point visible symptoms can preclude concealment. Walter, on disability from the government because of HD, and going to the gym daily, said, “I try and minimize my movements, so people won’t actually notice—so I can try and walk like normal people.” His goal of being seen as “normal” underscores how HD can otherwise be viewed as “abnormal” and stigmatized.
Patients with Alpha also often wish to hide symptoms of their disorder, but are not always able to do so. The point at which one needs to carry oxygen can be especially troubling, as it publicly signals disease. For breast cancer, too, patients may disclose only partial information—for example, genetic assay results, but not treatments. As we shall see, women with the mutation must decide whether to discuss with others the possibility of prophylactic surgery to remove breasts or ovaries. Reticence can result from expectations of conflict about whether they should choose or decline these frightening procedures. Mildred, who works in finance, has had breast cancer and bilateral mastectomies followed by reconstruction, but has not told her boyfriend that she has the mutation, and that doctors are urging her to excise her ovaries: “I know he would make me go for ovary removal. So, I haven’t told him. But the doctors keep asking me about the procedure.”
Disclosures also vary in the degrees to which they entail discussions of relevant details. Patients can find longer discussions threatening and overwhelming, and hence eschew these. When Tim, the lawyer, informed his siblings that he had the HD mutation,
They said “I’m sorry.” That was the end of the conversation. There really isn’t much left to say. They talk to me a little about getting tested themselves. But there isn’t a lot of back and forth about it.
His perception that there “isn’t much left to say” suggests not only the painful implications of the diagnosis, but the possibility of mutual avoidance of further discussion, given the pain it may cause.
HOW TO TELL
How to disclose proves difficult, too. These men and women have to gauge how to “prepare the ground” in advance, and over time, to minimize responses of shock. Disclosures can range from abrupt to gradual. People may find explicit conversation too threatening, and hence only discuss genetic risks indirectly or implicitly. Indirect discussion can manifest itself in nervous humor. As Bill, the asymptomatic, untested salesman who assumed he would get HD because he resembles his father, said:
My sister and I never speak about it . . . We probably will have that conversation one day. But I guess we speak about it without speaking about it. She might even say, “You know, we can get that disease one day.” I’ll say, “I know.” But we don’t get into details. We’ll just talk about our brother [who has HD] . . . and laugh about some of the crazy things he does.
Bill felt they should discuss it more, but the topic was too personally threatening—even though doctors have told him that if he hadn’t developed HD by now, at age 36, he probably will never do so. Still, given the threat, he saw his family as delaying conversations, rather than permanently preventing them. They communicate implicitly—for example, tacitly suggesting mutual anxiety and unease.
Familial reticence can reflect larger cultural or religious tendencies. For instance, taboos about disease and sex can impede discussions about breast cancer. “For my Catholic family out in the Midwest,” said Joyce, a Catholic woman with breast cancer who works in a spa, “cancer is a bad word. Talking about breast cancer is like talking about sex. We whispered.”
Issues arise concerning why tell or not tell, shaped by who was being told. Separate though related reasons to tell or not tell emerge with siblings, parents, children, and extended family (cousins, aunts, and uncles). For many, the very meaning of genetic disease is that other family members are at risk, yet the issues involved in disclosure differ somewhat by categories of relationships. Still, certain questions and concerns are shared.
Once symptoms appear, patients may disclose because to do so has become both unavoidable and essential for coping. Georgia, a journalist with HD symptoms, was told only three years ago by her mother that the disease existed in their family. “I don’t really think I can live a normal life,” she said about her diagnosis, “unless a few people close to me know.” She needed support for the multiple stresses the illness presented.
Generally, family members were thought to have a right to know if they were at risk. Hence, many people disclosed because of perceived responsibilities to the health of their family, to enable these others to pursue appropriate medical care and family planning, if desired. Disclosure could facilitate avoidance of potential transmission of the mutation to future generations. Adult offspring felt that their parents, even if not wanting to find out more about a deleterious gene and deal with it themselves, had an ethical duty to divulge it at some point.
Disclosure can also occur unhesitatingly because it is felt to be a cultural or familial norm. Family members may simply expect to be told. Though some families are taciturn, others are far more communicative. Pablo, the Latino artist, said about HD,
We like telling people, especially in my country. Because one day my father will be dead, and why was he dead? Why didn’t they tell us? The whole family knows. We have to be totally . . . honest, or they will never forgive us.
His lack of symptoms or testing also make disclosure easier for him.
For breast cancer, too, disclosure can occur to try to get used to and accept the diagnosis. Karen, the lawyer, revealed her breast cancer to others in order to remind herself of it, help her cope, and “normalize it for myself, and people I interact with. But sometimes, I get the heebie-jeebies around it, related to lesser life expectancy, and stigma.”
Historically, over time, these cultural norms and taboos about discussing disease can shift. In the recent confessional culture of Oprah, Jerry Springer, and Facebook, openness may be spreading. An older generation may have kept mutations more of a secret, as these were less understood, and perhaps, as a result, more stigmatized. As Ginger, a 60-year-old medical secretary with Alpha, said, “My father’s mother died in the early 1900s. My family doesn’t know why. People didn’t talk about things then.”
WHY NOT TELL
Individuals may decline to tell others, particularly elderly parents, to avoid burdening them. But tensions can then surface. Desires to avoid encumbering others commonly stemmed from prior experiences and interactions, often tinged with guilt. The implications of a disease, since it is genetic, may already overwhelm elderly parents. Charles, an accountant at a large Chicago company and a former smoker, did not tell his mother he had Alpha, though she suspected it. Families may intuit a member’s illness, but still not broach the topic—respecting the patient’s privacy. He chose to hide the information, but doing so carried a large cost.
I didn’t want to worry her, so just kept silent. She was pretty smart, so I thought she eventually suspected. If it was a nice day, people would go for a walk. I usually wouldn’t. She never asked me what the real problem was. She was very perceptive, but also very sensitive. I think she felt that if I didn’t want to tell her, she wasn’t going to pry. One time, I went to help her wash her windows, and got short of breath. She finally said, “Look, that’s enough.” But we never talked about what really was wrong.
Fears of troubling parents may also reflect guilt over having disappointed them in the past. Charles did not want to disturb his mother, but also felt badly about his drinking, which had upset her. “I was a wild young man,” he said. “She would never go to sleep until I was home.”
Others fear that parents, if told, might also feel remorse—in part because of having transmitted the mutation. Such feelings may not be rational, but persist. Jim, the physician who described some relief at learning he had the HD mutation, nonetheless said:
It was hard to tell my father, not because of privacy, but because he felt guilty . . . that he might have passed it on . . . the doctors [had] told them they shouldn’t have any more children.
Shame, fear of stigma, and desires “to keep up appearances” can also impede disclosure.
Barriers exist not only to disclosure, but to ongoing discussions following revelations of family risk. Joan, the psychiatrist with a strong family history of breast cancer (including her daughter) who herself had no symptoms, but tested to “educate” her family, said:
Our family doesn’t talk about this. If I said to one of my daughters, “What are you doing about your increased risk? Your sister has breast cancer,” she would say, “Shut up, Mom.” My mother was farm family pioneer stock. I never saw either of my parents sick. If you were sick, you went away, and came back when you were better. You weren’t paid attention to when you were sick. I saw that as “death with dignity”—stoicism.
She bemoans this reticence in her parents, but sees it in her daughters as well.
Histories of interaction in a family may also restrain disease communication. Certain family members may be estranged. Sarah, the computer programmer, has an extensive family history of breast cancer. If she had the mutation, she would tell most, but not all, of her family—since she hasn’t seen her sister in five years. Several individuals feel that if their disease were not genetic, they simply would not contact estranged family members about it.
Due to long-standing hostilities, family members may interact but not be supportive, further undermining potential disclosures. Francine, whose mother had breast cancer and who has not herself had symptoms or testing, said that in general her mother communicates very little to her.
She just doesn’t talk to me. Because she knows I’m—I wouldn’t say judgmental, but straightforward. I’ll say, “Why are you telling me this now? Why didn’t you tell me before?”
Family members may also announce that they don’t want to know—for example, to avoid jeopardizing their insurance. Yet such mutually agreed-upon silence can be hard to maintain. The desire to not be told can also complicate communication and interpersonal dynamics. Family members may have difficulty censoring their conversations. Laura, the graphic designer who inferred her mutation from her genetic counselor’s decision to have a trainee sit in, initially didn’t want to know her mother’s test result. That way, if an insurance company asked, Laura could honestly declare ignorance. Yet genetic results can become the stuff of family conversation in ways that are difficult to screen.
Dilemmas arise, however, of whether one should always respect others’ wishes not to be told. Desires for silence can themselves vary from explicit to implicit, and from more to less legitimate. Laura added:
My mom didn’t want to know my sister’s results. I thought, “Should I tell my mom that I have the mutation?” She never told me not to tell her. I didn’t know if I was different. Or if she just didn’t have the courage to tell me not to tell her. Or if she just assumed I would not tell her.
Laura struggled with these possibilities, illustrating how these decisions are shaped by perceptions of complex family histories. Slowly, she broached the topic with her mother, but highlights the intricate choreography involved—assessing only indirectly her mother’s wishes regarding others’ disclosures.
I told her that she had never given me the direct impression that she didn’t want me to tell her. I decided to take part in research—so that slowly opened the door for the conversation.
In the case of HD, psychiatric symptoms can further hamper disclosure. Individuals have to assess whether family members, because of age or psychological fragility—due in part to possible symptoms—can handle the information. Hence, within a family, certain siblings may know of an individual’s test results while others do not, forcing those who know to maintain secrecy. Siblings can vary widely in their perceived emotional vulnerability and resilience, and coping styles—for example, taking more emotional versus rational approaches. Simone, the young asymptomatic bookkeeper who only learned of HD when getting married, said about her siblings, “When bad news comes, they cry and don’t ask questions. Immediately, they think of the worst . . . I am definitely more organized and together.” Nonetheless she, too, had been upset, surmising her mutation from her counselor’s face, though presumably still better able to cope.
Even within a family, shame and stigma can decrease disclosure. Especially with HD, stigmatized psychiatric symptoms can perpetuate concealment. Even without symptoms, HD risk can be too troubling to discuss, in part since psychiatric symptoms can generate discrimination and fear. These symptoms represent loss of control, and are not fully treatable. Psychiatric symptoms can impede disclosure either directly (through symptoms) or indirectly (through stress that ensues). These problems can strain a family, further hampering openness, discussion, and the interactions of parents, spouses, siblings, and children. Consequently, family members may appear insensitive or not fully supportive. HD can also impede good parenting, compounding these difficulties. Parents themselves often encountered problems growing up because of HD in their own families of origin.
WHOM TO TELL
Whether, what, how, and why to tell can vary depending on who is told. Certain pros and cons are similar when one is deciding whether to inform siblings, parents, or children. Yet certain differences also surface.
Siblings, for instance, may immediately inform each other, since if one has the gene, the others are also at risk. On the other hand, obstacles related to the nature of the relationship could also block these divulgences. The most troubling disclosure could be to a sibling who might then have the mutation as well. At the same time, siblings may not fully grasp the information and its implications. Yvonne, who eventually had lung transplants and now wants to move to the South, initially understood little about Alpha. She thought that because she had it, her sister would automatically do so as well. Patient education about these issues can take a while: “I thought: now she’s going to have it because of me. My sister and I are so close. I felt embarrassed—that I was the one giving it to everybody.” She feared being blamed as the messenger of bad news. She suggests here, too, a common misunderstanding that we will explore later: that a genetic disease in a family means that everyone in that family will get it, or have a very high chance of doing so.
Perceived vulnerabilities may also block disclosures to a particular sister or brother. Siblings may simply not want to know because of anxieties concerning their own risks. Simone, who deduced her mutation from her counselor’s face, asked her brother, “Would you want to know if I’m positive? He said no.”
Thus, a person who learns of a mutation might approach each sibling differently, based partly on perceptions of their resilience and possible early symptoms. Family members were felt to have a right not to know, if they so wished. Yet desires for such ignorance could verge on minimization or denial, which could pose problems, too.
When long-standing tensions exist between siblings, old resentments and hostilities have to be weighed against altruistic concerns for their health and that of their offspring. Yvonne didn’t communicate with one brother, but had to overcome that estrangement to inform him and thus his children of her Alpha mutation. The medical benefits of the knowledge compelled her.
I don’t speak to him, but just had to call him: “You’ve got to get your kids tested.” Just because he’s a jerk doesn’t mean that his kids don’t need to find out. If they catch this disease early, they can control it—by never smoking, and by taking Prolastin.
Other siblings may be closer, but simply not feel much ethical obligation to each other. They may interact only casually, and disclose only incidentally, in passing. Charles, the accountant and former smoker who never discussed Alpha with his mother, did not think of telling his brother about it. Prolastin was not yet available, and his family rarely discussed the disease.
I didn’t tell him when I first knew. One day he mentioned that he sometimes got short of breath when he played tennis. So I said: “Maybe you ought to get tested.” That’s the only time we really discussed it.
His brother turned out to have Alpha, too.
Importantly, lack of intra-familial disclosures may occur in part because physicians do not mention or encourage such communication. Charles continued, “I started to see a specialist, who asked if I had any siblings. I never really focused on: ‘Maybe my brother’s got it, too.’ I never really thought: ‘Maybe I ought to tell him.’”
Patients face troubling questions about disclosures to offspring who are young adults—from late teens to early twenties. Patients rarely if ever told young children, but had to balance protecting older offspring from the stress of the information versus helping them cope and possibly take preventive measures.
Disclosures to children can be the most difficult aspect of learning that one has a mutation—far more than one may anticipate. As Albert, the policeman, said about his HD mutation,
The hardest thing was: how do I tell my kids? I didn’t think it was going to be that hard. But I didn’t know how they were going to react. I didn’t want it to affect their whole lives negatively. One son dwells on it, and thinks he has it.
This son may or may not in fact be manifesting early signs of the disease.
For breast cancer, too, disclosures to offspring can be the most difficult aspect of learning one has a mutation. In general, parents want to avoid worrying young children about information that won’t affect these offspring for a long time. Isabelle, as a social worker, is highly sensitive to these issues.
My kids are 16 and 20, and know I had cancer, but I don’t tell them, “Oh, I have this gene, and you might have it too.” I haven’t really discussed that with them. I try to be reassuring. I think they know I have the gene, but I don’t think they realize that they may have it. At some point, I’ll have to talk to them—that they should get tested . . . But why make them more anxious and have that hang over their heads—they’re still kids, and there are no real benefits.
She made careful risk/benefit calculations about disclosure—the potential harm to them (i.e., anxiety) versus the lack of current benefits to them. She thus divulged to them her risk, but not theirs.
Parents also face challenges in disclosing even to offspring who are 18 years of age or older. After having breast cancer, Beatrice, the Latina math teacher, tested in part for her 18-year-old daughter’s sake. But Beatrice, despite her matter-of-factness about medical risks, is less certain about the moral issues involved. She remains unsure how she would have informed her daughter if the test had turned out mutation-positive. “I’ve never lied to my kids,” Beatrice said. “I knew I would tell her, but didn’t know how.”
WHEN TO TELL FAMILY MEMBERS
Decisions of when to tell these family members pose quandaries, too, and get shaped by varying time frames—for example, the life cycle of the family member who is told, and the medical course of the informer’s disease. Within families, concerns about disclosure tended to increase at critical life junctures of at-risk individuals—at points of marriage, engagement, or having children.
Many wait to disclose until they have definitive answers to convey in order to resolve uncertainties and family members’ consequent worry. As suggested earlier, disclosures to others can thus occur not at the initiation of the testing process, but at its conclusion—when the test result is available.
Others do not readily volunteer the information, but divulge it only if and when asked or forced to do so. Disclosure may occur only after symptoms or treatment become visible and nondisguisable. Ori, the Israeli woman with breast cancer, told her younger daughter only right “before she got home from college, because I was bald.” Ori subsequently tested to encourage her offspring to monitor their health more closely.
Though careful plans may be made concerning how and when to disclose, advanced decisions can be hard to carry out. Instead, the information can simply leak or get blurted out. Ron, the motorcyclist, didn’t tell his mother about his HD mutation, partly because his twin had committed suicide. But “then we had an argument and I told her, which is exactly what I did not want to do,” he said. Especially without symptoms, the revelation that one carries a mutation can shock others who have seen the disease in other family members as well.
Patients encounter dilemmas, particularly with children, and have to assess the maturity of each child over time. Predicaments arise especially concerning the age at which adolescents should be told. Carmen, the Latina with both breast and thyroid cancer, decided that she would disclose her mutation to her daughter “as soon as she starts getting her own breasts. Sometimes she asks about my scars. I tell her, ‘Mommy was sick.’ One day, I’m going to have to explain it.” Yet many parents continually seek to postpone that fateful day.
Relatedly, a patient may disclose to children in waves—often spread out over a decade or more—since offspring may be different ages. However, patients’ perceptions of a child’s ability and need to understand a genetic risk and its implications may not be wholly accurate, distorted by parents own needs or desires to minimize or deny the illness and protect their kids.
Though young children may feel overwhelmed by a parent’s illness, utter silence can hurt as well. Ongoing concealment may end only inadvertently when children accidentally discover the information. At least initially, children may be too young to comprehend, but later might be able to do so—though parents might not recognize this change. Bonnie, the 24-year-old at risk of breast cancer, said that her mother had at first hidden the diagnosis, and discussed it only when Bonnie confronted her about this silence. Disclosure can be indirect and involuntary. “I was 12,” she said. “I walked in while she was changing and saw her scar. ‘How’d you get that?’ She was like, ‘Well, you know . . .’ She tried to explain it the best she could.”
Such leaks may be impossible to prevent. Joyce, who worked in a spa, resided with her 8-year-old daughter and was receiving chemotherapy for breast cancer. Joyce fears what would happen, if she dies, to her daughter. She does not think her daughter would handle the information well (that Joyce, though without the BRCA 1/2 mutation, had breast cancer and a strong family history). But Joyce realizes that the information may nonetheless be leaking out.
I haven’t talked to her directly. She might have overheard me on the phone. We live in a one-bedroom apartment, and there isn’t tons of privacy. I was sleeping with my wig on, for fear that she would wake up. What if I die?
A few learned about their risk as relatively young children, and vary in how they later viewed their parents’ decision to disclose at that point. Certain information can be helpful, even if frightening. Roger, who tested after he drove his car off the road, said:
I was 10 when I first found out about HD. I was very stressed out about it, depressed, unable to sleep . . . It was really tough, hearing that I was at risk for it. My mother told me that she had had children because there might eventually be a cure . . . it was very tough—the fact that I might get a disease like my mother . . . Me and my sister were able to understand at 10 . . . My mother first showed symptoms when we were eight or nine. My aunt also had HD, and was 15 years older than my mother, so they were able to tell us that “it’s probably going to be like that.”
He thinks it was appropriate that he was given information when he was.
Looking back, it was right. She just told me about the disease so that I could understand. My pediatrician did the same. He could have told me all these facts. But he just told us in a way we could understand at ten: that there is a fifty-fifty chance, so we were able to understand about our own risk, and what to expect with our mother.
Here again, who is told can shape what is told (e.g., young children can be given age-appropriate information). Ironically, the fact that the disease is genetic, and thus visible in other kin, may make it less abstract and more understandable, though still frightening.
In retrospect, others felt they were told too early—that they were too young for the information they were given. They distinguished between knowing about the disease in general (i.e., that it affected a parent) versus knowing that one was at risk oneself. “It was a lot to put on my shoulders,” said Antonia, who learned about her HD risk at age 15 and subsequently became a neuroscientist. “But my dad thought I was up to the task. It made me older than I should have been. I grew up very young.” She now feels that 15-year-olds should not be told. Yet the age at which one is old enough may not be clear.
For breast cancer, too, children may have difficulty comprehending the disease in a parent and its implications for them. Bonnie, who as a girl saw her mother’s illness, reported:
My mother had breast cancer when I was eight. Around 12, I started understanding it more, and coming to terms with it. As I got older, I learned in biology classes that it’s hereditary.
To determine when one is “mature enough” is difficult since children vary widely in their emotional and cognitive development. For adolescents, the meanings of a parent’s disease can also gradually change from a parent being sick to being at risk oneself.
In contrast, others felt that they were told too late. Disclosure may not occur until an offspring’s marriage—transpiring only then so that prospective spouses might know about it before they consider having children. Simone, the bookkeeper who only learned of HD when getting engaged, said:
Growing up, I was aware that MS was in the family. Then, I got engaged to my husband. My mother said—like she had been keeping a family secret—that it wasn’t actually MS, but HD. She wanted to tell me before we got married, because she didn’t want my husband to marry into the family when thiswas there.
Parents might not tell adult children at risk who might then have children, unaware of the risk. Keeping HD secret, and then disclosing too late, can incur subsequent resentment. Simone was angry both at her mother’s nondisclosure and view of the disease as shameful:
Now, when we’re 24, we find out that they’ve been lying to us our whole lives. I’ve been dating my husband since I was 16. So, if she wanted to make sure we didn’t get serious, she should have told me way back then.
With breast cancer as well, offspring may be angry because they feel they were told too late. Due to long-standing family dynamics, parents may have difficulty resolving conflicts between protecting versus informing offspring, and do so poorly. Susie, who worked for an HIV organization and had benign ovarian cysts but no breast cancer or mutation, found out late about an extensive family history of the cancer: “My dad and his mother and sister never talked to me about it. That pissed me off. Maybe they were scared. I got an email from my cousin, who had decided to tell everybody.”
As we saw earlier, responses to first learning one’s genetic risk vary from fear and avoidance to acceptance, testing, and further disclosure. At times, the health threats that family members feel can limit their sympathy for each other. Families—themselves all at risk of the disease—may fail to support fully, and may even ostracize an ill member. The diagnosis can threaten and disturb other family members, distancing them from each other. Dorothy, wheeling a metal oxygen tank and awaiting lung transplants, felt that since being diagnosed with Alpha, she has received little comfort from her family. “No one has said, ‘Gee, this is awful. I’m really sorry.’”
Children’s reactions may be more complex, given various stages of cognitive and emotional development and dependence on parents. Offspring may range from angry and sad to appreciative and supportive. Yet adult children may react adversely to bad news, and simply not want to talk about it. Diane, the Spanish teacher who woke up to learn she had had a mastectomy, found that her 37- and 38-year-old daughters—for whose benefit she had tested for the breast cancer mutation after she had the disease—did not want to discuss it at all.
They don’t even want to approach the subject. I have tried. One said her life was stressful enough. She didn’t ask me about the results. Since it was negative, I mentioned it. She said quickly, without wanting to discuss it, “Oh, good.”
Diane’s own stressful cancer and treatment no doubt frightened her daughters.
Since offspring may distance themselves, parents may simply not know their adult children’s reactions. They just do not discuss these issues together. Albert, the policeman who tested to guide his children’s reproductive decisions but was too late in doing so, said that his oldest son now doesn’t mention HD to him. “We haven’t talked about it in months. I don’t ask him how he’s feeling about it. He won’t bring it up.” The implications of Albert’s test result—that his children may have already passed the mutation on to his grandchildren—are too disturbing.
Adult children may also hide their reactions from their parents—outwardly behaving supportively, while inwardly feeling distraught. As Sherry, a waitress with breast cancer but no family history or testing, said, “I told my oldest son, ‘I was so happy the way your brother took it.’ He said, ‘The way he took it? He got off the phone with you, and called me, crying his eyes out, cussing.’”
TELLING EXTENDED FAMILY MEMBERS
Separate though related quandaries emerge of whether to contact extended family members—from cousins, nieces, and nephews to “long-lost” relatives who may unknowingly be at risk. Such contact can constitute the only notification these long-lost kin receive that they are in danger. Yet compared with immediate family, moral obligations and social rules here are often vague, since these relationships are more fluid and far less socially prescribed. Consequently, these decisions necessitate the complex weighing of one’s own right to privacy versus one’s responsibilities to these extended kin.
In general, ethical obligations are clearer to immediate than to more distant family, but ambiguities arise. Social obligations to distant families may be far less because, as evolutionary biologists point out, one shares fewer genes with extended than with immediate family members. Therefore, biologists argue, the bonds of responsibility and concern are diminished as well. The greater the genetic connection, the greater the social and moral bonds, since, as the biologist Richard Dawkins avers, genes seek to replicate themselves.
Yet here the presence or absence of one specific mutation, not the overall percentage of one’s genes, is important. I may share only 1/16th of my genes with my first cousin once removed (my cousin’s child), but that small fraction is critical if it contains a lethal or treatable mutation. Whereas I might otherwise communicate little if at all with these extended relatives, genetics heightens the reasons to do so. An individual may only learn of his or her risk of having a mutation after being informed of that fact by a long-lost relative. As suggested earlier, one person’s disclosure is another person’s initial discovery of risk. Such communication can be vital, if not morally obligatory.
The odds that such discourse occurs may be tenuous, due to a series of social and psychological obstacles. Surprisingly, disclosures to extended family members have received little if any attention. Yet these issues will be increasingly important as more genetic markers are identified—even if these have only partial penetrance or predictiveness. Indeed, the potential mixed and ambiguous meanings of markers—that they may have only limited clinical utility—can exacerbate difficulties in deciding about seeking, receiving, and interpreting such results.
Individuals here range considerably in whether they try to contact extended relatives, and how, what, and when. A patient may hesitate to inform nieces and nephews—who may be young adults, just starting their independent lives—and leave these disclosures to aunts and uncles. Many individuals thus tell their siblings, but not the latter’s children, deferring to these parents’ judgment. A woman may tell her brother about her breast cancer only because he has daughters (since their risk may increase as a result). But quandaries also arise of when exactly to tell such a brother or his daughters—whether and when to inform young adults. Generally, one feels more responsibility to one’s own offspring than to the offspring of one’s siblings (nieces and nephews)—for whom one’s sibling has primarily responsibility. Mildred, who works in finance and had breast cancer, the mutation, prophylactic mastectomies, and breast reconstruction but had not told her boyfriend about her mutation, added:
Someday, I’m going to have to tell my brother, because he needs to tell his daughters. It’s not my place to tell my nieces. They are not even 20. I would wait until they get older. I don’t have a specific date or time. It’s pretty heavy to tell a young girl: “Have your ovaries removed.”
Yet even if not close, extended family members may proceed to contact each other—despite obstacles of social or geographic distance. Altruism can prompt patients to go to great extents to notify long-lost relatives whom they know barely, if at all. Still, the information may not be acknowledged or well-received. Genetic information may get disseminated by email, and lack sufficient details or context. Susie, who worked for an HIV organization and had benign ovarian cysts but no breast cancer or mutation, described how she had learned about the disease in her family:
My cousin in California emailed me, saying she had just found she had one of the BRCA genes . . . She talked about various surgeries, which scared me. I’m not used to getting medical updates by email. She’s wonderful, generous, open. But I was shocked. I didn’t know what it was, or what to do about it. So I sat on it for a long time—two years.
While Susie was glad to be contacted by this cousin, others do not even consider informing extended relatives who may be at risk. To avoid such contact can help one minimize the impact of the disease. Karen, the lawyer, has sought neither testing after her breast cancer nor contact with any relatives about the disease. “My cousins are all dead. There is a next generation, but I have not thought to find out about them,” she said. “It’s willful, reckless ignorance on my part.”
Other individuals consider or attempt reaching out to distant relatives, but encounter obstacles. Patients may simply not be in close touch with such relatives, or know how to find them. These relatives may be hard to locate, which also thwarts the ability to obtain a complete family history.
Many people simply know little about their extended family, further justifing noncommunication. Geographical distance can perpetuate social distance. Conversely, geographic proximity can increase social closeness. But even after being contacted, additional communication may not occur. The phenomenon of long-lost relatives can be mutually fueled and reinforced. “It would be like contacting a stranger,” Karl said, concerning HD in his family. “We’re connected in having a family history, but I don’t have an emotional connection to them.” He underscored the distinction between biological versus emotional links—particularly concerning a disease with psychiatric symptoms that can impair interactions.
Similarly, some know of cousins, but simply do not feel close enough to warrant disclosure—raising questions of what determines this threshold of communication, and how one assesses it.
Individuals have to balance upsetting versus warning relatives. Genetic information, especially if it is not definitive, is often easier to not mention. Anna, for instance, a secretary in her forties, has diabetes and a strong family history of breast cancer, and a breast lump that turned out to be benign. But she did not tell her cousins about the lump, since the diagnosis was not yet clear. She valued not scaring them more than warning them.
Misunderstandings about test results can also mold these decisions. Samantha, the actress with breast cancer, lacked the mutation, but her doctors recommended that her cousins be carefully monitored. Still, she did not tell these relatives,
because they’re going to worry, and then cause cancer just by worrying about it! One cousin is a worrywart. Mammograms are full of radiation. And I don’t think I got cancer because of genetics. If got a positive result, I would have told.
She balances here her sense of her cousins’ emotional vulnerability, and her belief that her cancer resulted from the environment, not genes.
An individual may also avoid telling extended family members because of concerns that these relatives would then be too solicitous or overbearing, further reminding the patient of the disease and its worst possible implications. Vera, the Asian executive with breast cancer and a mutation, did not tell her extended family because she feared that they would all visit and be too present. Desires for independence can thus perpetuate silence.
Only my immediate family knows. Otherwise, everybody would have visited me in the hospital. It would have been crazy—too much to deal with. Everybody is calling my mother now every day. I need a break.
Those who decide to disclose to extended relatives then have to assess how to do so. Letters and emails can be troubling to both send and receive, because the information may be out of context and utterly unanticipated. The ideal tone of such missives can be hard to achieve. For conveying this complex and sensitive information, email is increasingly used, but limited. Face-to-face interactions may be best, but sometimes avoided because of upsetting emotions.
WHAT TO TELL EXTENDED FAMILY
People face dilemmas of what to divulge to not only immediate family, but more distant relatives as well. Social distance can lessen the amount of information conveyed. Moreover, concerns within immediate families that the information is too stressful may lessen with more distant relatives. Patients may expect, too, that distant relatives will provide less social support than would close family. Distance can thus be mutually reinforced.
Distant family members may also be unsure how to reply to the information, and what kind of support to offer. Given various obstacles, warnings to long-lost relatives may get ignored—letters are discarded or put away, all but forgotten. As Evelyn, whose husband opposed her testing, and who then had consulted a psychic, said:
The day I learned about HD in our family, my father gave me a letter from my mother’s first cousin saying someone had HD, was there anyone else in the family showing signs? This letter had been written years before. It had been in his drawer three, four years. My parents had ignored it, and not gotten back to the writer, which I found appalling: someone in our family is reaching out for help! You knew this was in the family, and you just chose not to tell us!
This secrecy contributed to her desire for knowledge, and for getting tested despite her husband’s opposition.
Disagreements can occur about not only whether to inform nonimmediate family members, but how to reply to the information once received. With distant (versus close) relatives, the social and hence ethical bonds are generally weaker, resulting from, and leading to, less knowledge of these relatives’ reactions—even whether they then get tested.
Extended family members may simply not want such communication—refusing to deal with the information and not responding even when urged to do so. Roger, who tested mutation-positive for HD after his car swerved off the road, said, “My sister tried to contact our cousin three to four times, but he won’t return her calls. He’s probably scared.”
Family members may explicitly instruct members not to inform particular relatives. Simone, who learned of HD in her family only when she got engaged, said that her uncle “told my mother, but didn’t want his kids to know. I was not to speak to them about it.” Simone railed against this restraint.
In short, while distance in the relationship may reduce the sense of responsibility to aid one another’s health, genetic information often prompts reconsideration of these norms. With a mutation, which may be shared, many people feel that these social bonds should increase much more than otherwise.
Tensions emerge, too, in telling in-laws. Not at risk of the disease themselves, in-laws can nevertheless be emotionally affected by a mutation in a family. However, they may misunderstand, be prejudiced, and even disapproving of a family—and its genetics—into which they have married. The discovery that a daughter- or son-in-law has a mutation can prompt stigma and discrimination. Mary, the housewife, had early symptoms of HD and was terrified that her in-laws would find out and condemn her.
Even before I knew I had this, my husband’s family was very judgmental . . . Now, it’s even harder. His father said, “I wish I had a daughter-in-law that smiled.” Their house is spic and span. I don’t clean. So I don’t ever want them to know about the HD. If they found out, they would try to get my kids: “I knew she was crazy.”
However, odd configurations of concealment and silence can then ensue. She didn’t want to tell her in-laws, so she agreed with her husband that she wouldn’t tell her family of origin either. Yet she then surreptitiously told her family.
Labyrinths of secrecy can result—as to who else possesses the information. Mary continued:
If my husband knew that so many people in my family knew, he would be upset. I didn’t tell him that I told my sister. He figured it out; and I got caught in a web of lies. I don’t know whom I told and didn’t tell. She was laughing at inside jokes—maybe I tripped, or did something wacko—that she could only have gotten if she knew . . . He still thinks no one else knows. But my sister told her husband. He knows that my husband doesn’t know that he knows.
Thus not only knowledge of a mutation, but also knowledge of who else has the knowledge, can be concealed. But such secrecy can be hard to maintain, necessitating further ruses. Mary tried to disguise her symptoms in part by smoking marijuana, and blaming any questionable behavior on the drug: “Everything HD-related I do—tripping or falling—I blame on pot . . . I can just say I’m stoned.”
Yet as symptoms develop they can be hard to hide, making such silence increasingly difficult. In-laws can be unsympathetic. Patients may confront misunderstanding and judgment from siblings’ in-laws as well. As Roger, who tested when he veered his car off the road, added about his HD:
My sister’s in-laws don’t know I have the disease. They’re closed-hearted, and wouldn’t understand. The last time I saw them, they asked me why I’m eating so much. My sister said, “Oh, his metabolism has always been high.” But next time, my other signs are going to be much more obvious. I can’t hide it much longer.
As suggested earlier, a patient’s diagnosis might be disclosed not by that individual but by another, without the patient’s permission. An informed individual may tell other family members, constituting “secondary” or third-party disclosure. Disagreements can occur as to who should or should not be told.
A few patients, in disclosing to others, specifically forbade the listener from spreading the information further. Evelyn, whose father had for several years hidden a letter from a relative about HD, and whose husband opposes her testing, described the continued secrecy in her family: “My aunt was adamant: do not tell my children.” Evelyn agreed to keep silent, since she felt her relationship with these cousins was not close enough to obligate such communication.
Yet many individuals either fail to foresee or try to forestall such third-party revelations. Alternatively, such secondary disclosures may occur despite a patient’s efforts to prevent these.
When such extended disclosure occurs, despite attempts to block it, patients, as well as those who were told by the patient and then informed a third party, have to decide how to react. Information, once leaked, can spread even wider, taking on a life of its own. The secondary discloser may have sworn the third party to secrecy, but in vain. Within families, the flow of information and knowledge of this flow can become complex. Trust has been betrayed, but the consequences may or may not be serious or harmful. As Sherry, the waitress with breast cancer, said:
My oldest son told his father-in-law—a doctor, who then called me. Then my son called me. I told him that his father-in-law had phoned me. He said, “I’m so angry at him! He wasn’t supposed to tell you that I told him!”
TESTING FAMILY MEMBERS
People face dilemmas about not only whether to disclose genetic information to family members, but whether to encourage these relatives to pursue testing, treatment, and prevention. A patient who discloses to relatives must then decide whether to push them to test, and if so, to what degree and when. As we saw earlier, in deciding whether to undergo an assay or not, individuals often confront family members’ needs and pressures. Individuals tested not only because they perceived on their own that to do so would help kin, but because these relatives explicitly requested, and even pushed for an assay. While decisions to test oneself entail weighing altruism against autonomy, decisions to pressure others to test pose dilemmas about the degrees of responsibility, paternalism, and authority one feels towards others. Conflicts arise since decisions of how much to push vary with each disease, based in part on epidemiology, preventability, and treatment. Adults have to balance competing desires and responsibilities against perceptions of these others’ rights. This pressure may prompt a person to undergo testing, or it may only trigger resentment.
At times, such encouragement could be straightforward and noncontentious. For HD, some want a parent tested so that neither they nor their kids will have to undergo testing themselves. Evelyn said to her mother, “I want you to be tested for us.” If her mother was negative, Evelyn’s kids would not be at risk.
For breast cancer as well, a mutation-positive test could trigger desires to test a parent—to see which side of the family the marker came from, and therefore who else might be in danger. If she had been positive, Beatrice, who assayed her genes in part because she had finished having children, would have tested her mother to know whether to contact cousins on the other side of her family: “If it’s from her, then we don’t go any further. She was an only child. But if she’s negative, I have to call my cousins on my father’s side.” As a math teacher, Beatrice felt more comfortable than many other interviewees pondering these decision trees.
Yet these assessments of others’ risk through third party testing can incite conflict. These third parties may refuse testing, viewing the risks and benefits of the information differently than do the two other parties involved. Given the tradeoffs, a relative may feel imposed upon, and have to balance his or her own rights and desires against perceived obligations to family members.
Contentious issues remain concerning how much to exhort adult offspring or family members to undergo testing. In part, the decisions hinge on what could be done if a genetic mutation were found. Yet even here, family members often dispute whether the advantages of knowing indeed outweigh the disadvantages. Many adult children choose, at least for long periods of time, not to be tested. Parents then have to decide how much to continue to push. Ethical quandaries can ensue in balancing one individual’s right to postpone testing against another’s desire to know whether the first individual has a mutation. Finances and differing insurance plans can impel a person to goad a family member to test. Yet usually at a certain point, when meeting with resistance or refusals to test, such pressure eventually ends, though both sides can remain bitter. Arlene, a nurse in her forties who had also studied religion, had breast cancer in her family—including her sister—but was untested and asymptomatic. She said:
My sister chose not to do genetic testing. That’s her choice, but it affects the entire family. It would have cost me $3,500. If she tests, then everybody in the whole family can test for $350. If she had been positive, and I had been negative, it would put my odds way down. I offered her the co-pay of $250. But she said no. It’s a control issue. Some people would rather not know. Yet you have to look at the overall good of the family, over the good of one person. I had to respect her right. But, if she chooses not to have it done, I pray that my insurance company would either let me test, or just approve me to have a bilateral prophylactic mastectomy.
Those who already have had symptoms may face less discrimination, and have their insurance cover testing costs. Free and anonymous assays are often available through research studies, but family members may still refuse these. Other family members may feel powerless to alter this decision. Ginger, the medical secretary, had a son who was a geneticist and refused testing because of the emotional and logistical threats of having Alpha. “He’s worried about finding out he’s got an abnormal gene,” she said. “I can’t force him.” In the end, the decision was his, but she continued to urge him.
A parent may push for offspring to test in part because of regrets over having transmitted or exacerbated the disease. Barbara, a part-time professor in her fifties, said that due to her Alpha,
When I see my daughter get a cold, I feel guilt. I smoked around her. I’m trying to be forceful, but the doctors are very aware that testing is not something to do lightly, because of potential discrimination. They think maybe we should wait, and let her decide for herself.
Despite the doctors’ remonstrances, Barbara remains worried and pushes, in part because of her remorse about having exposed her daughter to harm.
In the end, many demur from trying to sway other family members—even adult offspring—because of perceived limitations in the ability to do so. Dorothy, the former TV producer, carting oxygen and awaiting lung transplantation, tried to persuade a male cousin to check for Alpha. But given the low probability of her success and possible negative repercussions, she ultimately gave up. “He’s in denial,” she said. “He just can’t accept that a horrific genetic disease could be in his family. He came over with a book of Old Testament sayings and said, ‘Pray for a miracle.’”
Questions emerge, too, of how much to try to affect the degrees to which others engage in preventative behaviors. With Alpha, an individual who learns that he or she is at risk or has the mutation can then avoid smoking and environmental exacerbants. For breast cancer, an individual with a mutation can pursue more vigilant medical follow-up, and consider prophylactic surgery. Adult offspring with the HD mutation can consider PGD prior to having children themselves.
For Alpha, testing relatives is important because of the rarity and hence low awareness of the disease, but dilemmas then arise of whom to encourage (cousins, nieces, and nephews) as well as when, how, and how much to do so. Some readily seek to test their offspring, who may then learn their gene status and make appropriate lifestyle choices (e.g., not smoking). A mutation-positive test result can potentially motivate prevention. Betty, the designer with Alpha who carries an oxygen concentrator, said, “It is good for a kid to know: if you’re a chemist, wear a mask. Pollution makes things worse. When you have a bronchial infection, get antibiotics, so you don’t have scar tissue.” The burden and inconvenience of the disease impels her to urge others to engage in prevention.
“Whenever my granddaughter has a cold, I think she has Alpha,” said Barbara, who feels guilty that she had smoked around her children. “When she was born, she had jaundice, which is an indication. I’m hyper-vigilant, looking at her.” Conversely, a mutation-negative result can lower anxieties.
Yet testing children can lead to discrimination and distress. A child found to be a carrier for Alpha can do little about it, and faces potential stigma.
At times, an individual may seek to assay others against their will. Some patients quickly tested their offspring without considering the potential harms. Many saw their decisions only in retrospect as premature or ill-advised. Testing of children can also result from lack of understanding or education about the genetics involved. Gilbert, an electronics factory worker with Alpha, said:
As soon as I found out, I tested my children. I never gave a thought to privacy, or whether an employer could find [out]. It wasn’t a conscious decision. Is it more important to know your status as an Alpha or to worry about privacy?
Given these disadvantages of directly testing children, other patients sought alternatives. With Alpha, labs can assess an individual’s blood levels of the enzyme Alpha-1 antitrypsin directly, rather than the presence of the mutation itself. This phenotypic (rather than genotypic) gauge can help determine whether the individual has the mutation, and if so, whether they are homozygous or heterozygous. But this test is not necessarily accurate. Nonetheless, patients may analyze their offspring’s blood for this enzyme. With Alpha, all of a homozygote’s parent’s children are by definition at least heterozygous (i.e., carriers), and hence at risk of symptoms themselves. Whether these children are homozygous or heterozygous depends on whether the patient’s spouse has the mutation or not. (As described earlier, heterozygous carriers may have symptoms, though less severely than homozygotes.)
Some seek to test their offspring so that the latter will know before having children themselves. Benjamin, as an engineer, was very aware of the statistical odds involved:
I had my kids before I knew. I tested their Alpha level. It was in the median range, so they’re probably carriers. The odds are about 3% that their spouse is also a carrier, though neither of their spouses has been tested.
He checked their Alpha levels because they had asthma. Such a level may not lead to discrimination—even in their medical chart—since a carrier’s level can still be normal. Nevertheless, it may signal that a person is at risk, and could thus potentially attract insurers’ concerns.
To avoid the disadvantages of testing a child directly, others seek to test their spouses. For Alpha, as a recessive gene, if a homozygote patient’s spouse is a mutation carrier, 50% of their offspring will be homozygous. If the spouse has no mutation, offspring will be heterozygote, not homozygote, and may have no symptoms. Therefore, some patients tried to assay their spouses rather than their children. Gilbert, the factory worker, added “I had my younger son test his wife for Alpha when he got married. She doesn’t have the mutation. They will test the new baby and find out whether she’s a carrier.” His daughter-in-law agreed to test because she could do so anonymously through a research study.
Yet problems arise because parents may be divorced, and awkward scenarios can then ensue. Jennifer, the schoolteacher diagnosed with Alpha after her son was, does not want her grandchildren tested because of possible discrimination. Her daughter-in-law could be tested instead, but has divorced Jennifer’s son. Jennifer now plans to test her grandchildren herself.
For years I tried to have my daughter-in-law tested, so that we would have some idea about the children. But she doesn’t get how serious it might be. They have now divorced. I had the children with me for a week, but was remiss, and didn’t have the testing kits from the Alpha Foundation that are guaranteed private. I will have these when I see the kids at Christmas.
The fact that she wants to test them, and almost did so without their parents’ knowledge and consent, is troubling. What exactly she would do with the information—whether she would tell the children the results, and if so, when and how—is not clear. Again, genetics creates difficult and unforeseen scenarios.
Community organizations may also make recommendations about whether additional people should be tested. One major Alpha organization at first advocated that everyone at risk be assayed, but then altered this position because of discrimination concerns.
Some people want to test deceased relatives. After his twin committed suicide, Ron faced this issue, which precipitated complex intra-familial tensions, anger, and guilt. Quandaries emerged over who had the rights to take genetic samples from the deceased, and what to do if kin disagreed.
I managed to get a DNA sample off the coroner. I can’t actually do anything with it because the sample is part of what my brother “is,” so is owned by his wife. She’s chosen not to have it tested. It’s a difficult situation. If we knew one way or another, it would give us some indication of whether his children are at risk. They’re nine and 11—getting to the stage where she has to make decisions whether she’s going to tell them about HD or not. At the moment, they know nothing about it. She’s remarried, trying to ignore the situation. She’s a Baptist, and decided that God told her it was the right time to test the sample. But then she decided not to do it.
Guilt and complex family dynamics can complicate these issues. As Ron continued:
She threw my brother out of the house. That’s partly why she doesn’t want to test his DNA. If he was positive, it’s not only a problem for the kids, but also that he got sick and she threw him out.
These dilemmas of family testing and disclosure emerge prominently, too, with other disorders—for example, sickle-cell disease. For that diagnosis as well, testing can occur without disclosure. Roberta, the former nursing student with breast cancer, said that her daughter-in-law was a sickle-cell carrier. Roberta’s granddaughter was tested for this blood disorder but not told the result.
My daughter-in-law has the trait. My son does not. They wondered about my granddaughters. When one granddaughter was five, they found out she has the trait. Now, she’s 11. It doesn’t affect her health at all. When she gets married, if she needs to know, they’ll tell her. But should she be told when she’s 18, or wait until she’s married? The family rule is always: if you ask a question, you get an answer. But if you don’t need to know, we don’t bring it up.
If the information can prompt prevention or treatment, testing and disclosure appear potentially important, perhaps even mandatory. Roberta also suggested here the presence of family “rules” concerning such openness and secrecy.
Yet degrees of biological and social closeness to a relative also shape degrees to which testing is encouraged—particularly with extended family members with whom obligations are less clear and strong. Dorothy, the former TV producer awaiting transplants, feels she has a responsibility to inform relatives about their Alpha risk, but not necessarily to follow up. Even with siblings, she feels she should encourage testing only slightly: “You just send them the information. That’s the end of it. You can’t push more than that.” Similarly, Benjamin, the engineer, tested his own kids but not his cousins for Alpha, and accepts the latter’s refusals.
Others, due to their own ordeals, do not contact or pressure relatives to test—particularly extended family members. Carol, who after having breast cancer and the mutation aggressively underwent prophylactic removal of her breasts and ovaries despite her boyfriend’s objections, feels restrained in how much she can encourage others to pursue their own health:
My cousins should be tested, but don’t even go to the doctor. I should push more. I could wind up saving a life. But I haven’t called. I have other things going on. Many of us could help save someone’s life, but instead have this and that to do. At the end of the day, I’m tired.
OTHERS’ PREVENTIVE BEHAVIOR
People thus face dilemmas about how much responsibility they have to aid the health of others—to push family members not only to test, but to follow preventive health behaviors. Since prevention can be hard, questions arise of how much to try to change others’ lives and activities. Relatives may balance benefits and costs of prevention very differently, producing conflicts. As Gilbert, the factory worker, said about his brother’s risk for Alpha:
My brother quit smoking, but hangs out at a smoky local bar. God knows why he would risk second-hand smoke. But he wants to live his life and enjoy himself. If he loses a couple of years, so be it.
In the end, Gilbert disagrees with but accepts his brother’s priorities: “His social life revolves around those bars. If you took that out of his life, it would not be a good life.”
A consensus emerged that ultimately, relatives have a right to continue to engage in unhealthy behavior—but that the decision should at least be conscious and informed. Gilbert similarly tried to push his children to quit smoking, but to no avail.
They are carriers and smoke. I talk to them until I’m blue in the face. They can’t give it up. I finally decided to stop badgering them. If it costs them five years of life, they know the consequences.
Beliefs about the precise benefits and efficacy of certain preventive health behaviors may also vary. Individuals often confront difficult personal tradeoffs about their own mutation and that of others. Diane, the Spanish teacher who woke up from surgery with an unexpected mastectomy, hoped in vain that her daughter would follow more alternative treatments.
I believe in a holistic approach, more than stuffing yourself with antibiotics. My oldest daughter drinks wine every day, which is really bad. She should abstain from dairy, chocolate, alcohol, smoking . . .
Yet generally, in the end, these interviewees concluded that they could do little to alter others’ refusal or denial.
Parents may feel frustrated that their advice is ignored, which can be part of larger intra-familial tensions. A parent cannot control adult offspring’s health decisions, and pushing too hard can prompt resentment. Kate, a former nurse in her seventies, said:
I’ve been trying to get my two daughters tested for Alpha. They’re not interested, and they smoke. I say, “Burning up those sticks again . . .” “Awww, mom!” My youngest daughter is now smoking more.
Clinicians can also shape these disclosure and testing decisions. Yet while physicians may try to affect whether and what information gets disclosed, their perspectives may conflict with those of the patient. As Evelyn, whose father had hidden a relative’s letter about HD in a drawer, said, “My doctor talked to my mother, grandfather, aunt, and uncle, and they all decided not to tell the kids. That was so wrong!”
But providers were often seen as falling short because they did not prepare patients to address disclosure decisions—that is, who or what to tell.
Questions also arise of whether providers ever have a responsibility to notify a patient’s relatives about a serious genetic risk, if the patient refuses to do so. This scenario of pitting patients’ rights to confidentiality against physicians’ broader social obligations arose in the Tarasoff case,22 in which a psychiatrically ill university student murdered his girlfriend after disclosing thoughts about doing so to his psychologist. The psychologist notified the campus police but not the girlfriend, and was found liable. Most interviewees in this book opposed a doctor breaching confidentiality, particularly with HD, and felt that physicians were obligated not to do so. “It’s supposed to be confidential just like with a lawyer or a priest,” Tim, the lawyer with the HD mutation, said. “I don’t think doctors can do otherwise.” Yet judges have ruled that physicians at times have a duty to warn third parties about genetic risks.23
A few individuals draw finer distinctions. Gilbert, the factory worker with Alpha, feels that doctors should tell siblings, but not spouses. He recognizes that doctors could still face challenges, however, concerning how they learned of the patient’s risk.
I would support doctors telling the siblings. The catch-22 is: if these siblings ask the doctor, “Why do you think I might have it?” then the doctor is faced with, “Well, I tested your brother, and he’s got it.” That’s not kosher: breaking confidentiality. I think the doctor can only say, “Well, I have reason to believe you may have this particular problem, and I recommend that you get a test.”
IN SICKNESS AND IN HEALTH: DISCLOSURES IN DATING
At-risk men and women who are single and seeking long-term relationships face added challenges. Dating is critical to establishing an ongoing supportive relationship and having children, yet in these contexts, disclosures of genetic information can be fraught. Painful rejections can occur.
Spouses are important sources of social support for maintaining long-term physical and mental health24,25 and coping with diseases.26,27,28 Unfortunately, not all spouses cope well with their partners’ illness, and declining health can lessen marital quality, and thus social support.29,30 How, then, do individuals pick a partner who will hopefully stay with them in sickness and in health?
Surprisingly, in general, little research has been done on whether health issues affect dating, and, if so, when and how. Several psychosocial studies have explored aspects of dating and spouse selection, suggesting the existence of “assortative” mating, whereby people tend to choose spouses similar to themselves. This research has examined sociodemographic factors in selection of prospective mates, focusing on age, race, social class,31,32 and physical attributes such as weight, height,33 and attractiveness.34 Studies have suggested that premarital relationships may evolve early, or progressively over long periods.35 But research has neglected the potential roles of medical or genetic issues.
In dating, two members of a couple decide whether to make unique and extraordinary investments into each other’s lives. Unlike friendships, dating could lead to offspring, raising the stakes enormously. Yet in dating, at least initially, the two individuals are usually strangers. They then closely and carefully assess each other.
How do two such individuals broach the topic of genetic risks that may be stigmatized, and cause disease and death in themselves and potentially their future offspring? What challenges do they face, and how do they address these?
These men and women struggle with a series of conundra of whether to disclose to dates, and if so when, how, what, and why. Many fear or face rejection. Questions arise of what ethical obligations, if any, they have to disclose, and how to decide.
To avoid these dilemmas, some choose to forego dating altogether. Even in the absence of genetic risk, dating is difficult, involving fragile and confusing choreographies; mutual trust and social, and thus ethical, bonds develop to become the most important of one’s life. Disclosures of mutations can exacerbate these challenges.
Whether to Tell Dates
Once these individuals decide to get married, they generally feel obligated to tell their prospective spouses. Many value privacy, but feet it is now limited, especially since their future children’s health may be at stake. As Kate, the former nurse with Alpha and two grown daughters, said:
If you’re going to get married, your genetic make-up may affect not only your wife, but your children. You have an obligation to tell your wife—certainly if you’re going to have children. A person is entitled to genetic privacy, except as it affects somebody else.
Kate’s reasoning, though, implicitly raises questions of whether this obligation to tell is less if one does not wish to have children, and, if so, to what degree it is then lessened.
Moreover, in dating, before deciding to marry or enter long-term committed relationships, multiple other questions and uncertainties surface. People have to balance perceived obligations to disclose against potential risks of rejection. These individuals often debate what to do, gauging the long-term potential of a relationship against the risk of rebuff. According to Rhonda, the 31-year-old single nurse who at age six had seen her mother’s breast cancer and later herself had the disease, a mutation, and a mastectomy,
When you start a relationship, you think, “Now I’m going to have to tell this person. Is this worth it?” I dated men where it has come up very early on, and I realized this is not the person for me. That’s fine. If I need to tell, I will. If not, I won’t.
Genetic risk can thus force considerations about the seriousness of the relationship far earlier than otherwise.
Why Tell Dates?
Those who told did so primarily from a sense of ethical obligation to their prospective mate. Some readily told their partners because of having known and trusted them for a relatively long time—often, prior to the first official romantic date. As mentioned earlier, Tina quickly told her future husband about her HD risk because they had known each other for an extended period beforehand. The fact that he had revealed personal information to her, and that she felt asymptomatic, facilitated reciprocal disclosure.
Within the first 24 hours after our first date, I told him, “You’re going to meet my dad, he’s a mess. He has this awful disease. So does my grandmother. I could probably have it, too, and could maybe give it to my children.” He had had a girlfriend who died in his arms of cancer a few years before. He had told me about that before we even got together.
Disclosures can thus mutually facilitate each other, and both result from and enhance trust. Similarly, individuals may disclose in order to avoid any perceived dishonesty or lack of trust.
Many think that divulgence is morally obligated because their future children’s health may be affected. Conversely, several feel that disclosure is easier if the prospective spouse is uninterested in having kids. Ron, with the HD mutation, said, “If she wants children, then our relationship won’t go anywhere. I’ve had a couple of relationships with women who had already had children—that’s the simplest.”
Similarly, for women, the pressure to disclose can diminish after their child-bearing years. As Patty, the fashion designer untested and asymptomatic for HD, said:
Because I’m 43, this weight is now taken off my shoulders. It’s safer: when a guy meets me, he doesn’t usually think of family. I wanted kids, but hit 40. Maybe HD pushed the idea of kids out of my life.
As in other kinds of relationships, disclosures may also occur because genetic risks or symptoms can simply no longer be concealed. Georgia, who has symptoms of HD, but no testing, told her boyfriend because she’d otherwise have “to lie about why I lost jobs.” At a certain point, disclosures may simply be impossible to postpone, because of evident signs of disease or treatment.
Why not Tell Dates?
Given potential rejection, disclosure can be difficult even when one is in a relationship for an extended period of time. With romantic partners, disclosures can lead to painful emotional break-ups. In dating, rejection can be more painful than in many other types of social relationships—in part because hopes can be so high. As Ron, whose brother committed suicide, reported: “One girl simply said to me, ‘I can’t go out with you anymore.’” He felt “she was a bitch,” and remained bitter because of both what she decided and how she told him.
Rebuff can result from not only symptoms, but treatment effects as well. Prophylactic removal of breasts or ovaries can engender negative responses. Diane, the divorced Spanish teacher and mother of two daughters in their thirties who woke up to find she had had a mastectomy, said:
I’ve had bad reactions from lovers. The mastectomy is hard for me to deal with. So naturally, it’s going to be hard for someone else. I don’t feel comfortable with it, even after all these years. So, I stay alone.
Rather than disclose, she chooses silence, and with it, singlehood. Individuals’ views of their genetic risk or disease—particularly if negative or uncomfortable—can thus shape prospective mates’ responses. Many (but by no means all) women undergo reconstructive surgery after mastectomies, but it can remain noticeable, affecting patients’ views of themselves and fears of the reactions of others. Diane underscores, too, how issues of dating can be difficult for older as well as younger people.
What to Tell Dates?
As with other relationships, dilemmas surface of what exactly to tell dates—how much detail about the genetics or disease to provide. But whereas family members may themselves also be at risk, that is not the case with dates. Instead, many people try to minimize the potential risk to themselves and their potential descendants. Types of disease, degrees of risk, and likelihood of impact on future offspring can again play key roles. Alpha, for instance, which is treatable, may be easier to divulge than HD, which is not.
At times, people decide to offer only partial or incomplete information. For any given disease, it is easier to say that one is simply at risk rather than that one in fact has a mutation. The latter appears more frightening in its greater definitude. “I used to be able to say that I was merely at risk,” Ron reported. “Now, I don’t have that option. I still seem to be without any signs, but don’t want to be dishonest.” He wanted to provide the “whole truth”—that is, the most complete and up-to-date information.
Individuals might also say that a disease is “in the family,” but not that it is genetic. An individual may disclose not that he or she is at risk, but that a relative is. Bonnie, who at age 12 saw mother’s breast cancer, said about her sister, who had been rejected:
Now she’s seeing somebody who is crazy about her. But she still hasn’t told him. She said to him, “My mom is a breast cancer survivor.” So she had relief that he would kind of understand. I don’t know if she’s going to tell him about her ovary and breast removal.
But does he ever have a right to know? One could argue that if they are about to get married, her continued silence could represent a lack of full openness and honesty, and thereby an implicit violation of trust. But at what point does she need to tell? When might her reticence undermine his faith in her? In developing relationships, perceptions of trust are crucial because they are seen as signs of larger issues. Arguably, assessments of trustworthiness are more critical than in other, longer relationships.
Individuals face dilemmas of exactly how much detail to provide concerning not only the eventual lethality of a mutation, but also the potentially long period of disturbing symptoms that can occur and burden a spouse. At a certain point, one may decide to instill a sense of these difficulties, but these harsh details can be difficult both to describe and to hear, and can impair a budding romance. Ron, whose brother committed suicide, continued,
I’ve never gone out with a girl where I’ve thought: she understands what 20 years of me dying is going to be like. I’ve tried to make them understand: if I start exhibiting symptoms, all bets are off. I don’t want to be in a relationship under those circumstances. I think I’d kill myself if I got sick.
He raises a question of how much one is responsible for conveying the harshness of the possible future, especially since it may not in fact transpire. These issues surface prominently for HD, but may appear with other disorders, too.
In particular, people must decide whether, at least initially, to provide information concerning reproductive implications, and if so exactly when, what, and how. Some, but not all, of these men and women were aware of the possible use of PGD to prevent transmitting mutations to offspring. Yet this procedure is expensive and complicated. Nonetheless, a few interviewees offered such information to dates. Simone, the 29-year-old bookkeeper who only learned of HD in her family when getting engaged, felt that at-risk individuals who were dating should tell prospective spouses about the technology: “You’re going to have to take into account: you can have kids, but this is what you’ve got to do to ensure they don’t have this disease.”
Relatedly, questions arise of how to tell—for example, how best to frame the information. Many tried not just to give bare medical facts, but to cast the news as positively as possible, or at least to avoid presenting it entirely negatively. “Usually I email the girls I date good news,” Ron said, “as well as bad.”
When to Tell Dates
The extraordinary need for trust while dating also shapes decisions of when to tell. Many grapple with dilemmas of when to disclose particular bits of information. Fears arise of telling either too early or too late. But to gauge the most appropriate moment can be extremely difficult. Tim, the lawyer with the HD mutation but no symptoms, wrestles with this question.
I wonder: when is the right time to tell them. I don’t want to tell them right away, because it’s just odd. But I don’t want to get married to the person and they don’t know yet—it would be a betrayal of trust not to tell them for so long . . . Since I found out, I’ve been on dates, but nothing has really developed such that I’ve felt obliged to tell them. It’s an important moral issue: not to tell someone too late in the relationship. I worry about doing the wrong thing.
He struggles to avoid both the social awkwardness of raising the topic prematurely and the moral reprehensibility of unduly delaying. But ascertaining the right time is hard.
To make this decision, especially when it could in itself influence determinations of the seriousness of the relationship, some people develop their own set of rules. A few people establish predetermined periods after which they will tell. These rules may be firm or flexible, automatic or dependent on other assessments. Ron eventually concluded that for HD, disclosure within two weeks was appropriate.
I don’t want to get into a situation where somebody becomes attached, and doesn’t understand the situation. The last thing I would want is: a couple of years into a relationship, turn around and tell them. I don’t know whether my approach works in my favor or not. I started dating somebody last week. She’s 32. I don’t know enough about her yet to really know what she wants in life. The last woman I went out with was 37 and had children. That was a little bit easier.
To understand another person’s desires and preferences requires time. However, prospective spouses may also not yet have figured out such long-term wishes regarding relationships and children.
While Ron usually waits two weeks, others establish more subjective benchmarks. Gilbert, the 61-year-old factory worker with Alpha, would tell if and only if the relationship appeared to him to be serious or have long-term potential.
I wait until I see whether . . . I might be interested on a longer term basis. I didn’t bother telling anybody, until I met someone I wanted to date steadily . . . At that point, I would explain: “If this is a problem, then you should say so, and move on.” I never had anybody back out because of it. Most women—maybe the kind that I picked—would be understanding.
He suggests too, however, that he chooses women who would be less likely to reject him.
Others vow to resolve these tensions by telling (or deciding they will tell) only if asked. Kym, the South Asian physician with a strong family history of breast cancer but without symptoms or testing, said she would tell a date if the topic came up, but would otherwise not volunteer the information. In part, the implications of her family history are less relevant than if the disease were HD. Thus, the degree of penetrance of the mutation can affect the moral calculus. She may also feel less obliged to disclose since she herself has had no evidence of disease. The imperative may hence be less than for those who have a mutation or symptoms.
Yet family histories can readily get discussed on dates, and include aspects of relatives’ lives that can lead to or even necessitate these divulgences. Ron, whose twin committed suicide, said, “With the girl I’ve just met, the ‘tell me about your family’ discussion is going to be next. Unfortunately, with my family, it’s messy: especially if I have to say I had a twin.” One family fact can thus unspool others. Eventually, a significant other usually also meets one’s family members.
Others simply resolve to avoid these revelations as long as possible, ending the relationship itself if the truth needs to come out. A few wait until after they break up, and disclose to these former partners only then, as mere friends. Patty, 43 and divorced, who pushed her HD risk “under the rug,” added,
I can’t tell guys I date. I won’t let them know, unless I get very close. The topic of my mom doesn’t come up. I just describe her as aging a little—forgetful. Not many people meet her. I just figured: if I ever get really close to someone, I’ll deal with it. I have to make sure the guy falls in love with me first, before I tell him I’m defective [laughs]. I tell them after I date them, so that they stay my friends [laughs]. A guy I dated six years ago is one of my best friends now.
She disguises the truth—that her mother has HD, not just memory problems. Patty does not feel that providing only such partial knowledge is morally wrong, because she is not close or strongly bound to these men. Thus, she is able to obtain a degree of closeness and support, even if it limits the ultimate nature and extent of the relationship. Yet humor cloaks deep pain and moral uncertainty. She suggests that she will confront disclosure fully in the future if she needs to—thereby postponing decisions about these issues now. Thus one can date but remain somewhat distant, not wanting relationships to develop beyond a certain point.
Reactions from Dates
As mentioned, rejection does not always result, and in fact can be surprising and impossible to predict—coming at times from individuals who patients anticipated would be understanding. Bonnie’s sister had been spurned by a boyfriend—a physician—because of the disease and a prophylactic oophorectomy and mastectomy. The unexpectedness of such rebuffs makes them even more wounding. This sister
told a boyfriend that she had had cancer, and he flipped out. A week later, they broke up. He was a doctor, but doesn’t know how to react to cancer! Here’s a potential wife, but she’s got cancer. He doesn’t want to marry someone who’s going to die. I said, “You’re better off without him.” But it was traumatizing to her.
When rejection happens, several factors may be involved. Perceptions of the severity and implications of genetic risks vary widely. Rejections occurred particularly with HD, and mastectomies and oophorectomies due to breast cancer. In contrast, being at risk but untested and asymptomatic can be less frightening than having symptoms, the mutation, or invasive therapies. Generally, individuals who appear wholly healthy find that their risk alone appears less likely to precipitate a break-up. Serious disease in a potential spouse’s family can also potentially reduce the likelihood of rebuff. Such individuals may more readily accept disease, even HD, understanding and countenancing the risk—though not always.
Alternatives to Disclosing: Not Dating
As suggested earlier, potential rejection leads some to hesitate to date, or to avoid it altogether. Diane, the 66-year-old divorcee who had an unexpected mastectomy but no mutation, observed that “it’s difficult enough to have a meaningful relationship, anyway . . . Some women are very brave; others are not. Some men are very compassionate; others not.”
Not surprisingly, such avoidance of dating altogether transpires among individuals at risk for HD as well, and may be partially unconscious, or a manifestation of deeper anxieties. Tim, the lawyer, has not been in a relationship since he learned he had the HD mutation. The prospect of having to divulge his risk of HD appears to impede his dating, but he has difficulty acknowledging that that is the case.
Since I found out, I haven’t been intimately involved with anyone. I ask myself: at what point do I have to tell someone? I can’t just lay this on someone on the first date. I’ve only been on a few dates, not anything that has developed into a full-blown relationship.
He cannot bring himself to go on more than a few dates with any particular woman because he would then feel obliged to tell her. He fears painful rejection. Rather than not dating altogether, he simply eludes going on more than a handful of dates with any one person.
Third-Party Disclosures in Dating
When an individual has not disclosed to a prospective mate, external others may wonder if they should intervene in some way—either pressing the individual to tell, or revealing the information to the potential partner themselves. At times, people feel that a sibling should disclose to his or her significant other. Antonia said that her brother’s current girlfriend may know about their mother’s HD, but not that these siblings are themselves at risk. “She’s seen my mom, but I’m sure he hasn’t said that he is at risk,” she said. “She’s only 21. I don’t want to discuss it with her, and scare her off.” But Antonia, a neuroscientist, remains uncomfortable with her brother’s reticence. She feels he is embarrassed by their mother, and hence does not take his girlfriend to see their mother much: “He lives around the corner, but sees mom only once a month.” Still, Antonia and others generally refrain from in fact divulging the information to a relative’s significant other. But they ponder the possibility, and encourage relatives to disclose—though usually without success.
Interviewees thus face a series of dilemmas of whether to date, and if so whether, what, how, and when to disclose their genetic risks. They vary across a spectrum in what they tell. Disclosures could occur indirectly or inadvertently—for example, from seeing affected relatives, prompting efforts to prevent prospective mates from meeting ill family members. Other patients, particularly if affected by HD, vow not to date at all. Though these interviewees struggled to disclose neither too early nor too late, determining when to do so is difficult, and predictions of a potential’s mate’s reactions can be wrong. Rejection, though feared, does not always occur even when anticipated.
These dilemmas have no easy or ready answers, but heightened awareness of these issues among loved ones, physicians, genetic counselors, and others can help. Education about PGD can also be important to help reduce fears of children being affected by genetic disease, since these risks can now be lowered. Management of stigmatized information can clash with perceived ethical responsibilities to be honest. Degrees of trust, longevity of relationships, desires for children, and severity and treatability of the disease can all mold these decisions.
In disclosures of genetic information to a broad range of present and possible future kin, these individuals thus illustrate many complexities. While some readily tell their families, others provide only partial or indirect information. Disclosure decisions are based on several factors, including perceptions of others’ ability to handle the information, intra-familial norms of communication, and at times one’s own comfort with the results. While some make and carry out advanced plans for telling, disclosure is not always rational and controlled. Sometimes the information simply gets blurted out, or disclosed but then ignored.
Disclosure can also be difficult due to prior family communication styles and knowledge of the disease. The fact that this information can be stigmatized and changes perceptions of oneself and others, even in one’s family, can further impede divulgence. Issues of disclosure to distant relatives also take on more importance than with other diseases that pose less potential danger to these extended family members.
These decisions represent dynamic processes. Distance, closeness, and silence can all be mutually reinforced. A mutation-free person may face fewer difficulties, but not entirely: when, for instance, disclosures to family members entail informing these others that they are still in fact at risk. Patterns of disclosure or nondisclosure can also stretch over more than one generation. People can have strong but complex feelings, too, about other family members’ disclosure decisions.
While a study in Northeast Scotland4 found that patients felt that the right time to tell children about HD was usually when they were potential parents (i.e., about to be married), parents in the United States generally appear here to face these issues earlier. Perhaps in part this is because in urban America, offspring may have children later. Health insurance systems also vary dramatically between countries in ways that can affect disclosure decisions. Yet such international differences have received little attention in genetics studies.
For these interviewees, the timing of disclosures was based not simply on “prevarication versus pragmatism,” as in prior research. Rather, the information sometimes got blurted out. Though one prior study found that women more than men often served as gatekeepers of genetic knowledge,36 that was not as much the case for the people I interviewed. In part, this difference may have emerged because the other study interviewed 50% more women than men, and included breast cancer—which affects primarily women. The data in this book suggest, too, that one’s own specific mutation status can affect disclosure decisions. Past studies have not assessed all these factors. Future research should do so.
These individuals weigh not only whether to disclose but what, how, and to whom, and were not always rational. Individuals seek to manage stigmatized information about themselves, but feel moral responsibilities to their kin and to truth-telling. Sissela Bok, in Lying: Moral Choice in Public and Private Life,37 held that essentially people should never lie. In contrast, David Nyberg, in The Varnished Truth,38 asked, “What’s so good about telling the truth all the time?” and argued that telling lies is an intrinsic and necessary part of human life. Between these two extremes lie a vast range of possibilities that these interviewees charted. As shown, they navigate these conflicts between desires to conceal and perceived needs to tell the truth based on various factors (e.g., degrees of closeness and age of family members).
Clinicians rarely if ever discussed these issues with interviewees, especially regarding extended family members. Patients thus often wrestle with these complex and nuanced dilemmas without professional guidance. Yet genetic counselors and clinicians can potentially help at-risk individuals consider these conundra in advance.
Problems arise as well concerning secondary disclosure: one family member who is told, and then gives the information to third parties. Clinicians can help at-risk individuals anticipate these possibilities beforehand. Potentially patients, when telling someone, can state whether the information can or cannot be shared. Such a request may not be honored, but can at least be made.
Questions emerge as to not only whether clinicians should address these issues, but how. A patient may tell providers whether he or she disclosed, but it is important to discuss, too, what exactly was communicated—what precisely patients revealed or anticipate revealing (i.e., partial versus complete information). Providers and patients should also address obstacles to communicating information to extended relatives who might benefit from the knowledge. While patients may feel reluctant to communicate with these distant or estranged family members in part because of lack of prior contact, such information may be vital to impart. Providers need to help clients consider in advance what, how, and when to disclose results to these various kin.
Professional training and public education also need to increase awareness of these challenges—particularly when familial relationships are strained, in part because of genetic disease in the family. Mental health providers can also help address such tensions.
Individuals wrestle with these issues even before entering a genetic counselor’s office. They may be at risk but not learn of that fact for years, even as adults, or they may receive the information indirectly, incompletely, or belatedly over extended periods of time. To understand these potential obstacles is vital to ensuring that those who might benefit from genetic information are made aware of their risk as best as possible, in order to help these individuals confront subsequent dilemmas they then face.