Is information power, or is ignorance bliss? These men and women often remain unsure, and look to family, friends, and health care providers for answers.
“Knowledge doesn’t always give power,” Susie said. “Sometimes it opens Pandora’s Box and other unknowns.” She works for an HIV organization, and has a strong family history of breast cancer, but no symptoms or mutation herself. She and others struggle to decide which of the above scenarios would result from genetic testing. She tries to balance complex uncertainties, and the pros and cons in assessing when information may be either helpful or too frightening.
From the moment they learn they are at risk, these individuals all have to navigate through a difficult series of decisions—initially, whether to undergo testing or not. Moral dilemmas emerge of whether to obtain genetic information for the sake of one’s family, despite its potential costs to oneself.
Since the HD mutation was identified in 1986, issues concerning genetic testing among at-risk individuals have been discussed, but many critical questions remain. In the 1980s, studies suggested that most at-risk individuals would opt for testing.1,2,3,4 But rates of testing have been much lower (e.g., 5%–20%5,6), raising questions of how individuals at risk for these diseases in fact make these decisions.
Researchers have probed the reasons why individuals decide to test or not, but as I will show, almost all of this research has been based on rational choice models that assume that people make logical decisions. In contrast, I was struck by several aspects of these decision-making processes that have tended to receive less and less attention—for example, how these decisions are made in complex social contexts, and involve misunderstandings.
In addition, almost all testing studies have focused on why at-risk individuals make decisions, rather than how they make and view these decisions and what their experiences are like.7 Much of this prior research has also tended to be quantitative, not qualitative—that is, measuring phenomena, rather than describing them verbally—and presenting the voices of these men and women themselves.
In the case of HD, early data, often collected before any testing was available,8 assessed knowledge and attitudes,9 and found several main reasons people might test or not. Reasons for testing included obtaining certainty, future planning and helping children,10,11,12 and knowing risk to children if one tested positive. Reasons for not testing included lack of a cure, threat to health insurance, testing costs,13and fears of depression or problems coping with the result.14 For several diseases other than HD, reasons for and against genetic testing often cut across diagnoses and include perceptions of advantages versus disadvantages, related to: perceived risks, ability to cope with results, intrusive thoughts, employment status, health insurance, helping affected relatives, knowledge about genetics, confidentiality, logistics involved, depression, age, education, children, and past disease experiences.15,16,17,18,19
Several theoretical models have been proposed to understand these issues. For instance, three types of stories have been described about how individuals make decisions about testing: proceeding to get testing without expressing any doubts, evolving toward the decision, and experiencing a pivotal moment when they decided to test.7 Other researchers have proposed that individuals pass through four stages—of precontemplation, contemplation, action, and maintenance.20,21,22 Yet though a “precontemplation” stage, for example, has been suggested,21,22 what exactly occurs then, and what factors are involved, remain unclear. Such models have also been challenged since such stages may not be discrete, and individuals may occupy several simultaneously.23 At-risk individuals monitor themselves for signs or symptoms of illness,22 but it is not clear how exactly they do so, and how they view and experience these processes.
A health belief model has been proposed, positing that health behavior is shaped by perceived susceptibility, disease severity, and costs and benefits of the behavior.24,25 Models of “stress and coping” have categorized coping strategies as either “problem”- or “emotion”-focused.26 Yet with regard to genetic testing, these two models appear limited.27 Health information itself has been seen as meeting either cognitive or emotional needs,28 and individuals have been grouped as either seeking (“monitoring”) or avoiding (“blunting) information.29,30 In hypothetical situations, monitoring has been associated with preferences for testing,31 and perceived threat and unpredictability.32 In general, individuals tend to be risk averse.33,34
Yet testing decisions may not be matters of “rational choice.”7 Subjective issues have begun to be explored,35 but require much more examination. For instance, generally, individuals seek to “manage” stigmatized information and pass as “normal,”36 but in the case of genetics, this phenomenon requires further elaboration.
The meanings and experiences of genetic risk and testing decisions occur within multiple intra- and interpersonal frameworks and temporal contexts,35 and perceived responsibilities toward others may play roles in testing decisions.37 But how exactly social factors in fact operate or shape various stages and decisions has received little attention.21,22 For Tay-Sachs disease and Fragile X syndrome, one Israeli study found that the major reason patients were not tested was that physicians did not refer them for the test.38 Of primary care providers in the United States, only 31%–56% have ever ordered genetic tests for patients.39,40
Researchers have tended to view interactions with family members dichotomously: as coercing or permitting at-risk individuals to undergo testing.22 Yet in general, sociological interactions can involve a broad array of dynamic, complex pressures and inputs that individuals can accept, resist, or negotiate.41 Questions thus remain of how and when individuals weigh these and other criteria, and with what consequences.
Individuals may decide to delay testing,22 but why and how they make these decisions is also not known. Though other studies have examined aspects of coping (e.g., related to post-test distress12,42,43,44,45and partner relationships46), the possible implications for understandings of testing decisions have rarely been studied. Suggestions have been made to decrease the amount of counseling for genetic diseases.47 But better understanding of how individuals progress through the testing decision process can help future doctors, patients and their families, and others.
LEARNING THAT ONE IS AT RISK
These individuals enter the world of genetics through a series of stages—each of which affects subsequent ones. Repeatedly, familial and other social contexts shape decisions and responses. Medical and personal concerns mold these decisions as well. But social milieus play critical roles that prior research has generally ignored. These social influences often combine in complex ways with other factors, based on the strength or salience of each.
As we will see, even before confronting decisions about testing, these interviewees learn from others—family members or physicians—that they are at risk of a familial disease. Yet they vary widely in how and when they receive this information. As offspring of affected parents, they may be told or not, and may or may not in turn tell their own offspring. Some first learn that they are at risk when a relative is diagnosed, posing a double whammy: hearing of a threat both to a family member and to themselves. The moment of revelation can be shocking, even if the information is not altogether unexpected. These issues arise with all three diseases, but news of HD in the family proves particularly disturbing. Several participants remember the exact date.
The fact that genetic disease, by definition, occurs in families has many profound implications. Within a family, a genetic mutation can cause multiple stressors, as any one member confronts not simply his or her own risk of disease, but relatives becoming ill as well. These individuals face not only their own choices regarding testing, disclosure, privacy, stigma, and having children, but also those of parents, aunts and uncles, cousins, and siblings. Ron, for instance, a 42-year-old, said, “I know what it’s like watching my brother die. It’s gone on and on and on for thirteen years.” His brother committed suicide rather than suffer further. Ron has not yet had any symptoms of HD, but has the mutation. His experience watching his father and brother leads Ron to continue to ride a motorcycle—to enjoy life as much as he can now, while still symptom-free.
Some learn of a mutation in the family, and hence of their own risk, only when they are contacted by long-lost relatives. Brian, a former teacher, said:
We got a phone call from a relative I never met. She was a nurse and mentioned that HD ran in the family. My wife took the call. I never spoke to her myself. She found our name through the phone book. My father and I have the same name. I don’t remember meeting any of his relatives. I left the South when I was six months old.
He underwent testing and found out he had the mutation. Knowledge about distant relatives can thus be scant; some people don’t have even basic information about the number or names of their parents’ siblings. But in the age of genomics, such knowledge may suddenly be vital.
RESPONSES TO LEARNING OF RISK
Risk information can come as a complete surprise. The fact that the news is bad colors responses to it. Some patients wrestle with whether to blame the messenger, or family members who pushed to get the information. Brian did not like that this relative called. He thought, abstractly, that he would be better off knowing, but remains ambivalent.
Even when individuals know that a disease is in the family, they can be shocked, since it may not have been known to be genetic. Patty, a fashion designer who has not yet had HD testing or symptoms, explained:
HD being in my family came up subtly because no one really realized that it was HD and was so debilitating. We knew my grandfather had something, but they thought it was Parkinson’s. We had no idea it was hereditary. Then, when I found out my mom had it, the doctor’s reaction upset me. I thought: “Wow. Why’s everybody making a big deal out of it? Grandpa had it; he was fine.”
She and many others assumed that HD is like other neurological diseases without genetic markers such as multiple sclerosis or Parkinson’s. Hence, one may not realize that one is at high direct risk for it oneself. Doctors also may not give, and/or patients may not remember, genetic details.
Not surprisingly, hearing that one is simply at risk can be devastating. When his mother was diagnosed with HD, John, who worked for a financial company, was in graduate school, and dropped out.
I just lost it. I took a job and got booted out after a year. I became irrational . . . obsessed over whether or not I had the disease. I changed how I viewed myself: from a healthy to an unhealthy person. When my mother was diagnosed, I was 27—taking on responsibilities, getting married, having kids. The news put off moving on to a more normal life. I just regressed. I couldn’t handle things, started drinking and doing drugs.
Eventually, he learned that he lacked the mutation, but the prior stress had already encumbered his life.
Similar stresses arise with Alpha, too. Scientific knowledge about many genetic markers is still relatively new and therefore scarce. Hence, a disease in a family member may not be recognized as being genetic, and information about it may be communicated poorly, if at all. Family history may not be known, due in part to prior misdiagnoses. Yvonne, who had lung transplants for Alpha and, as we shall see, wanted to move to the South to avoid possible environmental exacerbants, said, “My father’s sisters and brothers could have had Alpha. A cousin died at 35 of emphysema. At that time, they didn’t know what Alpha was.” Known as a diagnosis only since 1963, Alpha was often missed. “My cousin’s father was possibly a carrier,” she continued. “He was turned down during World War II—I think because he had asthma or something like that.” But she remained unsure of the exact reason. She and others were generally the first ones in their family to be diagnosed, and often faced vast uncertainties.
For breast cancer, too, risk may be perceived only indirectly, if at all. The quality of information, even when sought, can be poor, in part since families may not want to talk about a relative’s diagnosis. “My father’s first cousin had some sort of cancer,” Karen, a lawyer with breast cancer, explained. “I don’t get a straight answer from anyone about what it really was: uterine, ovarian, endometrial.” Secrets can persist in families for years, blocking knowledge and obscuring ongoing risks.
Even once a disease is known to have occurred in a family member, to know whether it is genetic or not can be hard. It is difficult to determine whether a strong family history results from a clear genetic marker. Karen continued, “The doctors said, ‘Possible genetic link.’ They wouldn’t say yes or no.” As a smart lawyer, the lack of answers frustrated her.
PRE-TEST ASSUMPTIONS AND SELF-MONITORING
Particularly for HD, once learning of their risk, many people try to gauge themselves to determine whether or not they possess the lethal gene. To elude the pain and possible stigma of obtaining a definitive mutation-positive test result, they assess themselves in various ways, generally by comparing themselves to others.
Individuals usually do not just start thinking about testing when they enter a genetic counselor’s office, but have instead pondered the questions for years, even decades, making guesses about their gene status that then shaped their testing and other decisions. People who learn that they may have a mutation, but do not wish to test for it immediately, face paradoxes of how to proceed with knowledge of that risk, and how to view themselves and their future. They often draw lines in the sand—striving for certainty and lower anxiety in the present, even if it implies turmoil in the future. Overall, three patterns emerge: assuming one has the disease, assuming one does not, and avoiding thinking about it at all. Interviewees make these assumptions about their genetics in the context of social relationships—judging themselves vis-à-vis ill relatives and others. These issues arise with particular force among people confronting HD, given its lethality and lack of treatment, but emerged for the other diseases as well.
Assumptions of Being Gene Positive
Surprisingly, many assumed they would be mutation-positive. Not until Simone, a 29-year-old bookkeeper, got engaged did her mother disclose that HD was in their family. Since then, Simone said that she “always thought I would have it.” Eventually she tested, and found that she indeed has the mutation, though she has not had symptoms. “It’s simply been proven,” she said wryly. Still, in her twenties, her attitude, trying to minimize the mutation and its impact on her life, helps her cope—to feel less surprised—reflecting desires for continued life, and relative order and calm. Her belief allows her to feel, too, that she still has a future.
Even as early as adolescence, some individuals assumed that they would eventually develop a disease, based on seeing an ill relative. The fact that at-risk individuals usually observed HD in other family members made the diagnosis somewhat less surprising, even if still anxiety-filled.
As we will see, misunderstandings and myths about genetics develop—that one will develop HD simply because of physically resembling an affected parent. Bill, a salesman, said,
I figured I was going to definitely have HD because I look the most like my dad . . . If you see pictures of him as a kid and me, we looked exactly the same. When they told me it was hereditary, I thought, “Well, then, I guess I’m going to have it.”
Yet Bill’s brother then developed the disease, and Bill has remained asymptomatic, and has not been tested. He now cares closely for his sibling.
Desires for certainty and lessened anxiety can outweigh desires for future health, which may be more abstract. Certainty can be easier than uncertainty—even if it entails assumptions of eventually having a deadly disease. These assumptions can in fact organize one’s life. Ron, the motorcyclist whose twin committed suicide, and who eventually learned that he also has the HD mutation, although he has not yet had any symptoms, said:
If you told me that I didn’t have HD, I’d have to go out and find a new way to live my life, reassess 20 years of decisions, every relationship I’ve ever had. It made sense of my life.
Many at risk of breast cancer also felt they would have the disease, though these assumptions generally caused less distress. Some always assumed that they would get breast cancer, given its high prevalence in their family. Kym, a South Asian doctor, said,
With all the cancer in my family, I’ve always just sort of felt I’m going to get it. I almost became O.K. with that. My mother’s had it twice; it’s been in my house four times now. I’m used to it.
Kym has not yet had any symptoms or been tested for it, but accepts it as a possibility, and seeks to prepare herself, in part to elude despair.
Indeed, as will be described later, a strong family history of breast cancer may prompt assumptions of developing the disease, as a result of observing it in family members—even without explicit knowledge of the genetics involved. Rhonda, a nurse, assumed even as an adolescent that she would get breast cancer because it affected her mother and aunts. Her father’s warnings to her about it, and the trauma of her mother’s early death, contributed to this presentiment. “You relate to what’s happened to your family,” Rhonda explained. “When I was six, my mother died of it. Even as a teenager, my dad gave me articles on self-exams.” She ended up having breast cancer and the mutation, and feels that her forebodings were thus accurate.
Among women confronting breast cancer, those I interviewed may seem to ponder genetic issues more than some other women facing this disease. In part, I recruited interviewees through a registry of families with breast cancer, so they often had a family history of the disease. Breast cancer patients with no family history may be less inclined to view their disease in genetic terms, yet many are still clearly concerned about whether their children, siblings, and other family members may get the disease. In addition, awareness of the genetic bases of many cases of breast, ovarian, and other forms of cancer is rapidly advancing.
Assumptions of Being Mutation-Negative
Not surprisingly, others want to be disease-free, and assume they are mutation-negative. Karl was unfortunately sexually abused by his HD-affected father, underscoring the terrible possible effects of this disease in a family. Karl felt that he himself did not have the HD mutation, because he did “not want” to have it. The possibility horrified him. He also did not notice any early possible symptoms, bolstering his belief and hope. Luckily, his assumption turned out to be correct.
Others deny the very possibility of being affected. For breast cancer as well as for HD, despite a family history, some never thought that they themselves would be affected. Karen, the lawyer, verged on denial, saying she never imagined she would get breast cancer.
There’s a lot of cancer in my family, but I always thought I would get colon, not breast cancer. It just didn’t click for me. In some ways, I still haven’t totally dealt with it. I talk very openly about being a breast cancer survivor—it’s influenced the way I live—but it’s still not real.
She suggests how full acceptance and acknowledgement of disease can vary, and be difficult.
Others avoid attributing physical symptoms to a possible diagnosis. They assess themselves for possible evidence, and see their continued ability to function as welcome demonstration of being mutation-free. Yet such assumptions can turn out to be wrong. Walter had worked in government, and recently developed symptoms of HD. He went on disability, though he has not been tested. He said, sadly:
I play the flute, go on the treadmill at the gym every day, and work out with dumbbells. I said, “There’s no way I would have HD.” But it snuck up on me. I can still do pull-ups and chin-ups. But not like I used to . . .
Such self-monitoring can clearly vary in accuracy, costs, and benefits. Some compare themselves to others, seeking confirmation of being mutation-free. Patty, the fashion designer without HD testing or symptoms, said,
I’ve been taking a body sculpting class, based on balance and dance . . . As long as I . . . can stand on one foot with the other foot extended, just like everybody else, I’m still O.K.
Others go further, and may overcompensate to prove their healthiness to themselves and others. Ron motorcycled, as mentioned earlier, and gauged himself by the fact that he was still able to do so. Though asymptomatic, he eventually learned he had the HD mutation. “The fact that I was riding motorcycles seemed to mean that the odds were slightly in my favor. It was a sign that I didn’t have the disease,” he said. Yet his continuation of this relatively dangerous activity suggests that he may still be denying the severity of his risk.
On the one hand, such assumptions of being mutation-negative can prompt decisions to undergo testing. If one assumes that no mutation is present, the risk of bad news is low. Susie, for instance, worked for an HIV organization, and had benign ovarian cysts and a strong family history of breast cancer, but no clear symptoms of it herself. She knew a lot about genetics, and thought she did not have a BRCAmutation.
[A friend] said, “If you don’t get the testing, you might want to treat yourself as if you’re positive, just to be on the safe side.” That was too intense, so I ended up seeing a doctor. I met with her once and decided to test. I had to find out if I’m positive or not. The counselor made the whole family chart, and showed my percent risk. There was a higher chance that I didn’t have it. That emboldened me. It just got to a certain point where I had to find out. Ignorance is bliss, but the amount of ignorance I had was decreasing.
Luckily, she found out she lacked the mutation.
Generally, assumptions of lacking a mutation were not seen as guaranteed substitutes for definitive tests themselves. Indeed, these assumptions can prove bitterly wrong, and hence, generate much uncertainty and angst. As Susie continued,
I was scared. It had become such a worry on my mind, wondering: am I stupid not to know? What if we find some great new breakthrough? I thought there’s a better chance that I’m going to be negative. But I started to think I could die young. That was always in the back of my mind. I was worried sick.
In the end, she felt that only a test result would alleviate her anxiety.
Given the stresses of these pre-test assumptions, a few people tried to avoid thinking about their mutation status altogether. Yet this stance was hard to maintain as external events and worries impinged on one’s life.
SELF-MONITORING AND ITS LIMITATIONS
As suggested above, these self-assessments are difficult, and under- and over-diagnosis occur. Uncertainties hover even as to what exactly constitutes symptoms, and whether these are present. Detailed knowledge about a disease can remain low, even among those who have it. Outside observers may assess at-risk individuals as well, and offer external judgments that may be unwelcome, if not resented. As Ron, the motorcyclist, said, “I lost my temper, and one girlfriend asked me whether that was a sign.” Yet HD can be hard to diagnose in oneself or others, in part because psychiatric symptoms such as depression and anxiety can be nonspecific. Still, people sought psychological evidence to support diagnostic assumptions.
These assessments of oneself or others can induce tremendous fear, while still shrouded in uncertainty. Chloe, a 28-year-old secretary who worked with her sister, was at risk for HD, and described this tension: “I was really irritable, and thought, ‘Oh my God, I’m turning into my dad.’ Little things pissed me off. That was his first symptom.” Yet she has chosen not to be tested. Testing can reduce uncertainty, but also diminish hope.
Assumptions about whether one will get HD raise questions of fate, and can become the stuff of superstitions. “There’s so much hocus-pocus around whether people who are positive sort of know it,” Linda, an art teacher who eventually tested negative for HD, said. “You can’t remove superstition, spiritual dabbling.”
Some consulted psychics, desiring definitive knowledge of the future without risking discrimination that could result from an actual documented mutation. These consultations reflected, too, the degrees to which beliefs about metaphysics and fate can underlie views of genetic risk. Evelyn, a housewife and mother in her thirties, said that her husband did not want her tested for HD because he feared the results would upset them. Consequently, though asymptomatic:
I went to a psychic reader. She immediately said, “You have bad news in your family.” My father-in-law had just died. I thought she probably means that. But she said, “No, I’m not talking about the death.” She said, “I’m talking about the devastating news in your family. You have a very important decision to make, and don’t know which way to go, and time is running out.” She said, “Could you tell me what the decision is?” “I’m planning on being tested in two months, and really want to do it.” She said, “You don’t carry the gene. . . . You’re fine and your children are fine. I’m not talking about the rest of your family.” A weight lifted off me. I didn’t feel the strong urge to be tested. I stopped at the liquor store and bought champagne.
Whether the psychic was correct remains unknown, but Evelyn and many others looked to fortune tellers to help make diagnostic and testing decisions, illustrating the degree to which these dilemmas evoke metaphysical notions.
The unpredictability and unreliability of these soothsayers can pose difficulties. Simone, the 29-year-old bookkeeper who, only after she was getting married, was told by her mother about HD in the family, went to twelve psychics, picking the prognostications she liked, before getting tested. Simone realized the “madness” and questionability of her beliefs, but remained undeterred, seeking surety. She and many others believed that a psychic could divine their future, and thus mutation status, without having to face the stress of a definitive result.
Unfortunately, interpretations of symptoms may not be clear. Physical signs of disease can be ambiguous and nonspecific. With HD, a vicious cycle can ensue of self-monitoring, oversensitivity to symptoms, and increased anxiety that can lead to further monitoring and sensitivity to symptoms. Anxiety can be viewed as evidence of HD—exacerbating fears. As Linda, the art teacher, said about the period before she tested mutation-negative:
The whole HD nightmare: you drop or forget something. After starting genetic counseling, I got more freaked out. I lost my concentration, got more clumsy —because I became more and more self-conscious.
Her eventual mutation-negative test result revealed that her prior perceptions of possible symptoms were inaccurate. Anxiety can thus arise independently of the disease’s direct symptoms.
Still, this worry complicates self-judgments and, as mentioned earlier, can become self-perpetuating. Physical—not only mental—symptoms can also become part of a self-perpetuating cycle, as fears lead some individuals to exercise aggressively, to prove to themselves they are healthy, though such exercising could then cause injury.
To support assumptions of being mutation-free, individuals desperately sought rationalizations—for example, that many others also displayed possible symptoms (such as anger) unrelated to the disease. But self-monitoring can, because of fear, take over and shape one’s very being. Over time, anxiety and symptoms can become overwhelming, such that testing is the only relief. “Finally, I couldn’t get away from it,” Linda said, “until I found out about my status.”
LEARNING ABOUT, AND BEING OFFERED, GENETIC TESTS
Unfortunately, not everyone who might benefit from a genetic test is offered one, or learns that such a test exists. Rather, the opportunity to undergo genetic testing occurs in specific interpersonal contexts. For HD, at-risk adults have usually seen the disease in a parent, and hence know that testing is possible. But for other diseases, the possibility of testing may never arise, or does so less directly or forcefully. For Alpha, a rare disease, patients may only get tested when a savvy physician happens to know about, and suggest the test. Many doctors don’t consider ordering an assay. As Yvonne, who eventually had lung transplants for Alpha, described:
None of the 20 doctors [I saw] tested me for Alpha, or knew what it was. Finally, one happened to send in a simple blood test. I was always being diagnosed with asthma and bronchitis.
Indeed, when eventually diagnosed, the delay could have high costs. She continued:
When they finally detected it, it was too late. If doctors detect it earlier, they can treat it at the beginning, and extend your life. But by the time they found out, I only had a quarter usage of my lungs.
Especially for rare diseases such as Alpha, physicians may under-test. As the disease is uncommon and its genetic basis relatively new and hence little known, physicians may have little awareness of it. She added, “I still come across doctors who don’t know what it is. I say I’ve got Alpha, and they say, ‘What is that?’”
The rareness of the disease contributes to the low recognition of it among providers. She explained, “Doctors don’t know about it, therefore it’s missed.”
Diagnosed Alpha patients argue strongly that certain types of specialists, in particular, should be aware of the disorder, but sadly often are not. As a result, as Yvonne said, “A lot of patients . . . know more about this than the doctors,” which can create strains in receiving treatment and interacting with providers.
Alternatively, doctors may know of a rare genetic disease, but not think of it in diagnosing a patient—in part because they have not seen it before. Hence, some patients may learn about their disease only through the experiences of relatives—even offspring. Jennifer, a schoolteacher, was diagnosed with Alpha only after a physician tested her son.
I had been sick for a while, not responding to antibiotics. Then my son came home for Christmas and had pneumonia, which he’s been prone to since a young child. He was on an antibiotic. But I sent him down to my doctor and made my son promise to have tests done when he got back to his own home. He did. I asked him a couple of months later. He said, “Well, yeah, as a matter of fact, I have something with a missing enzyme, and they said it’s not a concern right now.” A month or so later my family doctor asked me if he had had testing done. I said, “Yeah, they told him he had some kind of missing enzyme,” and the light bulb went on for my doctor. He said, “Alpha Antitrypsin. My God, I’ll bet that’s what you have.”
Yet a doctor may not tell a patient to disclose the diagnosis to at-risk family members. She added,
My son’s doctor did not say, “You should tell your parents to get themselves checked out.” It was a gift from the gods that the scenario played out the way it did. If I hadn’t asked, I wouldn’t have found out.
Providers’ limited knowledge of a diagnosis—especially a relatively unusual one—can also lead them to dispense inaccurate information about testing and the disease. Without much understanding, physicians may give patients incorrect prognoses and advice. At times, only the patient’s persistence prompts eventual assessment and testing. Doctors may not catch the diagnosis, and may later send the patient to specialists. Yet such secondary or tertiary referrals may serve to keep knowledge or experience about Alpha low among primary care providers, furthering a vicious cycle.
Patients may feel frustrated by referrals that require further travel and logistical difficulties, not understanding the need for the referral, and realizing only in retrospect that such consultation may be best. Patients may see only the final outcome as justifying the effort. For rare diseases, reliance on specialists may enhance care, but lessen the motivation of general practitioners (GPs) to acquire added experience.
For breast cancer, too, provider confusion and poor communication linger. Providers do not always discuss the potential of genetic testing to women at risk of breast cancer. Despite a strong family history, some women report that no one had ever mentioned the possibility of such testing to them. Providers may under-test, and not raise the issue when they perhaps should, reflecting low knowledge about genetics among doctors generally.
Yet patients may wrongly assume that tests, if not offered, are neither needed nor potentially helpful. Bonnie, a 24-year-old saleswoman who, at the age of twelve, saw her mother with breast cancer, now feels that young women at risk receive too little attention. She described a friend who did not test because doctors did not mention this possibility. This friend concluded that because she wasn’t told about testing, she did not need it. Yet such assumptions can clearly be incorrect. Bonnie felt that physicians may miss the diagnosis, since they may believe that some women are simply “too young” to have breast cancer.
When my friend said, “I feel a lump in my breast,” the doctor said, “You’re only 30. Don’t worry about it.” She finally went to another doctor, and found out it was cancer. She could have died. If she didn’t push, her doctor could have just said, “Oh, it will go away. It’s a gland.” A lot of doctors think that way.
In the end, patients, not doctors, may end up initiating discussions about testing.
At the other extreme, some doctors may test too frequently, actively encouraging it for clinical or research reasons. Vera, a marketing executive with breast cancer and no family history, was asked to test because she was Asian.
A doctor called me and said she was spearheading the genetic testing in the area, and they were having difficulty getting Asians. They offered it—that’s the only reason I did it. I thought: What the hell? It’s only blood.
She would not have sought testing on her own because no one in her family had been diagnosed with the disease. Yet surprisingly, she turned out to have the mutation.
Many physicians are unsure how to proceed, because of deficits in their knowledge and experience concerning genetic testing. They may not always get separate informed consent, or offer any or adequate genetic counseling, and may test patients without sufficiently considering the potential complexities involved. Indeed, studies have shown that physicians often have serious deficits in knowledge in this area.48,49,50,51
Doctors may have not only deficits in knowledge about genetics, but deficient training in the nondirective approaches that genetic counseling requires—in which practitioners do not make recommendations, but encourage the patient to consider all the pros and cons, and choose what he or she thinks is best. Genetic counseling thus necessitates a different kind of training than the directive stance medical school instills. Unfortunately, the United States and other countries have shortages of genetic counselors, as a result of which physicians may often need to take on this role. Kym, the South Asian physician with a strong family history of breast cancer, said,
We’re all supposed to be impartial, but with genetics, emotions and biases can come into it—beliefs about terminations of pregnancies, and who has the right to get pregnant. But there’s either no genetic counselor, or a three-month waiting list. Most doctors are not offering or doing counseling.
Moreover, doctors may be insensitive to patients’ difficulties considering and undergoing genetic tests. Physicians may see these tests as merely routine, not much different from other laboratory assays, expecting that, as with many other evaluative diagnostic tests, at-risk patients would of course undergo testing. Laura, a graphic designer with a breast cancer mutation but no symptoms, said,
Doctors forget that there’s a whole lot of emotional baggage that comes along with testing. It’s really a huge decision. It’s not the same as: you have an ear infection or not. This affects your identity. But when I started going to doctors, the first question I would get was always, “Did you get tested?” It’s a knee-jerk reaction. It makes it easier for them.
The reasons for testing varied somewhat with each of these diseases. For Alpha, physicians more than patients usually initiated testing, and no strong disadvantages appeared. People facing risks of HD and breast cancer confront a range of intra-personal and social reasons to test or not. On the one hand, many decided to pursue testing because they felt the information would be beneficial—that information is power, valuable in and of itself—the more, the better. Yet that attitude in itself usually evolved from other past events. In deciding to test for HD, Karl, who had been sexually abused by his HD-affected father and consequently ran away as a teenager, drew on his broad life experiences. “The more I know about a situation, the better off I am,” he surmised. The fact that he found he lacked the mutation contributed to this belief.
The perceived definitiveness of these tests also allure many. Despite having a normal neurological exam and no symptoms, some sought genetic testing to provide a firm answer. Karl continued,
The neurological exam would tell me how affected I was, if I were getting sick. But I wanted objective understanding of what was happening, so I wouldn’t be completely on my own, in the middle of the ocean, trying to figure out what’s going on with my brain.
The test’s objectivity and definitiveness appeared more appealing than knowledge that one was simply “at risk.” Karl also didn’t know to what degree to hold his father (vs. the disease) accountable for the abuse, exacerbating this desire for definitude.
As described more fully below, for breast cancer, too, mutation-positive tests prompt individuals to monitor themselves for symptoms more vigilantly. For breast cancer, such a result was felt to be important to know even for patients who had already been diagnosed, since the likelihood of disease recurrence then increases.
As we shall see, many feel that testing will allow them to do something about the increased risk. For Alpha, effective treatment with Prolastin can then be started. But this belief motivates decisions to test for breast cancer as well, for which the only treatment for asymptomatic people is prophylactic surgery.
Many see information as beneficial because it allows for possible future action, even if such a course is not yet clear. Roberta, an African American former nursing student, had breast cancer, and contemplated testing. “The kind of person I am, I’d rather know, because you can’t do something about something you don’t know about.” The fact that she worked in health care, and had seen countless medical interventions on patients, contributed to this attitude.
The possibility of undergoing prophylactic surgery can also prompt testing. Beatrice, a Latina math teacher, had breast cancer, and was finished with childbearing. She underwent testing in part since she decided that if she had the mutation, she would have her ovaries removed. “I didn’t need my ovaries anymore,” she said. “They could take them out. I have two kids, and was about to enter menopause.” As a math teacher comfortable with numerical assessments, she was very matter-of-fact about the risks she faced.
Testing can occur due to belief in its possible advantages for prevention—even when these may be unclear or illusory. For breast cancer, preventative health behaviors such as self-examinations and mammographies may help, though the value of the early use of these has recently been contested.52 Evidence of the illness in a family member, even without genetic testing, could also potentially, in and of itself, impel such proactive assessments. Arguably, women should monitor themselves carefully anyway. But for many, a mutation-positive test substantially strengthens vigilance. A genetic test for breast is not definitive—other, still unidentified mutations besides BRCA 1/2 no doubt exist, and women may or may not develop cancer, regardless of whether they are found to have a mutation. But many women feel that a genetic test offers advantages in leading to enhanced prevention. A genetic test may not be fully predictive, but still seems to offer a modicum of definitiveness.
Some assume that in general, knowledge is power—without in this particular instance fully understanding why or how. In fact, with genetic testing, more knowledge can be confusing and uncertain in meaning, and hence may not always provide such clear and unequivocal benefits. Carmen, a 49-year-old Latina former clerical aide, had breast and thyroid cancer, and a BRCA mutation. She suggested to her nieces and nephews in their twenties that they get tested for the mutation as well:
So they won’t go through what my sister and I are going through with cancer. The doctor would be able to do the right tests. Don’t wait! Test just in case! And follow up. If you don’t know, the doctor won’t really follow up. If you know, you will be more careful.
Yet these relatives disagreed.
An immediate family member’s diagnosis of cancer can in itself, at least for awhile, motivate additional prevention efforts. But knowledge of one’s own mutation appears to motivate one far more powerfully. Individuals who do not think they are directly at risk may more readily ignore the potential dangers. People may simply disregard threats that they judge to be of low probability—whether that assessment is accurate or not. As Shilpa, a Hindu medical student, born in India, with a family history of breast cancer, said: “If people are not directly affected by it, they are not going to really think about it.” She has not had symptoms, and thus not been tested.
Hence, for many, a positive genetic test proves far more powerful than knowledge that they are simply at risk. Family history alone could potentially increase awareness as well, but generally does not do so to the same degree as knowledge of actually possessing a mutation.
The presence of mutation in a patient often leads doctors to follow up more vigorously as well. Isabelle, a social worker who found she had a breast cancer mutation, described how it further motivated her providers.
If you know you have the gene, it’s more of an incentive, more real. Since the doctors know I have the gene, they’re really on top of it. I am sure they are that way with any woman with breast cancer—but for me there was no question about doing an MRI. They don’t do that for everyone.
One could argue that a positive genetic BRCA test should not increase a doctor’s preventive efforts, but it appeared to do so, suggesting again the powerful psychological and symbolic meanings of these tests.
Indeed, some patients test so that their physicians will monitor and follow them more closely. Questions then arise of how much of an increased probability of disease prompts what degree of increased quantity or quality of monitoring by providers and patients.
Since other medical tests that doctors offer have clinical utility, many patients believe that new genetic tests must do so as well. But, as mentioned earlier, the increasing marketing of new genetic tests, without clearly demonstrated clinical usefulness, takes advantage of these beliefs. Therapeutic misconception has been described in research—whereby many individuals in a research study, in which they may or may not be given an effectual treatment (e.g., a placebo), tend to believe, even if informed otherwise, that the researchers will certainly give them an effective treatment.53 In the case of genetic testing, a similar phenomenon may exist of “diagnostic misconception.”
For HD as well, individuals often feel that testing will allow them to act differently in some way. But such prevention is in fact not yet possible. Nonetheless, if the result is mutation-positive, one can potentially plan one’s life accordingly. Testing tells one whether one has a limited amount of time to live, in order to set and attain appropriate goals. Pablo, a single Latino in his early thirties without symptoms or testing for HD, said:
I want to know, to be aware of how much time I have left, before I get any symptoms. I have certain goals: I’m an artist. I want to know how much time I have left before trouble begins, to accomplish my ends.
He has not yet decided to undergo testing, but sees benefits to doing so. Testing can help in arranging for future financial needs, and reprioritizing time and resources.
Testing to Reduce Worry
For HD and breast cancer, many individuals test to lower anxiety. The uncertainties of being “at risk” can shadow and haunt one’s life. Antonia worked in neuroscience, and was asymptomatic for HD, but tested because “it’s always hanging over you, in the back of your mind that you could have this.” The possibility of relief due to absence of a mutation can thus outweigh the risk of stress because of learning one has a mutation, tipping the scales toward testing. Luckily, she learned that she lacked the mutation.
Testing was sought, too, to eliminate the anxieties surrounding ongoing self-assessments and examinations, which themselves induce stress. Yet this motivation may prove strongest among those who believe they lack the mutation. Testing can also result from wishes to reduce anxieties about possible symptoms—for example, to ascertain that momentary forgetfulness is normal, rather than due to HD. Yet, as mentioned, with HD these issues can become very complicated, since anxiety can itself be a symptom of the disease. Evelyn, the housewife without any clear HD symptoms, has not yet undergone testing but is leaning toward doing so, and in the interim, like several others, consulted a psychic.
I forget everything. My kids are in a million different activities, and I’m constantly running here and there. That’s probably why I forget everything. But in the back of my mind, I’m always thinking, “What if . . .” I want to know one way or the other.
Unfortunately, testing for this reason runs the risk of yielding unwelcome news. Hence, individuals have to struggle to gauge the exact amount of anxiety they can tolerate. As Patty, asymptomatic and untested for HD, monitoring herself in a body sculpting class, said: “If I obsessed and thought about it too much, and it overtook my life, I would be tested. But, at this point, it doesn’t.” This relative amount of worry can range widely between people. Individuals differed in their capacities both to tolerate such anxiety, and to predict how much angst they could manage in the future. These characteristics can vary by personality and temperament. Some drew on their sense of how anxious they were. Yet anxiety could result either directly as an HD symptom or indirectly as an emotional response.
The Type Who Does Better Knowing
Many individuals think that people should test if they are the type of person who does better knowing, but gauging whether one fits into this category is not always easy. Some feel they are this type, which gives them a sense of control. As Rhonda, the nurse who at age six saw her mother die of breast cancer, and later developed the disease as well, said:
I’m a need-to-know person. It’s personality. Knowing me, the way I am, I wanted to know, to feel empowered, in control—though obviously there’s not much you can do. But feeling a little more: maybe I can do something about it.
This trait contributed to her decision to become a nurse, and was in turn strengthened by her career. She found she had the mutation, and has worked hard to accept it.
For HD, too, individuals discussed this notion of a “type” who want to know. Tim, a young lawyer, tested for HD, though asymptomatic. “With someone like me, it makes sense to get tested,” he said. “If something is knowable, I would want to know, rather than be uncertain.” In part, as an ambitious and successful young attorney, he has tended to do well planning and achieving long-term goals.
Other psychological characteristics, such as assertiveness, can motivate testing, too. Some think that people who are knowledge seekers should get tested. Simone, the 29-year-old bookkeeper, tested for HD because “if people are as aggressive as I am, they definitely need to get tested.” This description evokes theories concerning “monitors” versus “blunters” among people confronting medical information, but suggests that the desire for knowledge is part of larger desires and personality types.
But how exactly individuals do or should define, gauge, and predict this trait, and know in advance if they possess it—especially with regard to genetic information—remains unclear. Many have difficulty sufficiently self-assessing the presence or absence of this characteristic—how well they would handle sensitive information in the future. Linda, the art teacher who found she lacked the HD mutation, said:
People boiled it down to: are you the type of person who does better knowing information, or not? I was very much on the fence. So, my six to eight months with the genetic counselor became about where I actually am. Finally, I was over on the other side. But it took forever. . . . I always assumed I was a person who did better not knowing, but that was not the case.
A sharp divide seems to separate these two camps, but deciding whether oneself or others fit this type or not was complicated, and ultimately, highly subjective.
Interest and Education in Science
Education and professional experiences shape these testing decisions as well. Several of these men and women worked in health care, and appeared more likely than others to want to know. They were familiar and experienced with handling such medical information. Several others who had a long-standing interest in and substantial amount of medical knowledge also tended to want to know. Some may simply be more medically oriented than others. Roberta, the former nursing student, distinguished herself from her mother who was “anti-doctor”: “Unlike my mother, I’ve always been a doctor bug: Let’s see what’s going on.”
Testing can also occur because of another family member’s diagnosis, or discovery of a mutation—for example, because a sibling or parent is found to have the mutation, or dies of the disease. The presence of a mutation in a family member, not family history of disease alone, might impel testing. Sarah, a computer programmer with a family history of breast cancer, said,
Before my sister underwent genetic testing, I had seen TV shows about genetic tests, but was lazy. Nothing kicked my butt to do it, until my sister was positive. My mother was sick, but who knows if that was from genetics or not. It’s easier to make rationalizations, if you don’t have somebody else’s positive tests.
Luckily, Sarah lacked the mutation, and has not had any symptoms. For her, the genetic assay provided the information she wanted.
People balanced these tensions in the context of medical and economic factors as well. Testing appeared easier in the apparent absence of symptoms.
Consequently, a seeming lack of symptoms can encourage testing, but did not always guarantee that a mutation was in fact absent. Simone, the young bookkeeper, felt asymptomatic for HD, but found she had the mutation. “If you don’t have symptoms, it’s easier to test, because you have a chance of being gene negative,” she said. “That’s a huge bonus.” Unfortunately, her gamble turned out to be wrong, but she still supported the logical basis of her decision—in part because, as described below, she had undergone intensive genetic counseling, carefully weighing each of these possible scenarios.
The costs of genetic assays play roles here, too. Insurance occasionally covered testing but, as we will see later, often did not do so, and discrimination could result. A few people had their insurance company pay because it was willing to, and they thought that the odds of future discrimination were low. Still, uncertainties loomed. Rachel worked in publishing and had breast cancer. Much of her family had died in the Holocaust, which left her without much knowledge of her family’s medical history, and she was concerned about the possibility of future discrimination. She engaged in a complicated calculus, weighing the odds of discrimination against the lab costs (approximately $3,500). In the end, she opted to test, largely because her insurance would cover the fee.
I didn’t know what it would mean for getting other coverage in the future. The insurance company wouldn’t know the results, but the truth is: if they found out I got the test, and I then started having surgeries, they could put two and two together. At the time, I wasn’t really thinking about that. I just really didn’t want to pay for it myself. I thought: I pay for this insurance, and don’t want testing to be a financial burden.
But even when insurance would cover testing, not everyone wanted the results on their medical record. Individuals whose insurance covered the charges thus faced dilemmas of whether to submit an insurance claim for the laboratory bill. Many avoided using their insurance for this purpose.
As suggested earlier, though lack of insurance coverage could impede testing, women who already had breast cancer would presumably not face additional discrimination because of the assay, facilitating testing.
Individuals with insurance had to weigh whether to use it against perceived benefits of testing. The presence of insurance coverage was often a necessary—but not sufficient—reason to undergo genetic analysis. Beatrice, the math teacher with breast cancer, said, “$3,000 was a barrier, but I tested because at some point, my daughter or son would need that information.” She had to put a price on the value of the information to herself and her family, and made an economic decision, factoring in the value to their health.
Others tested only because to do so was free through an investigative study, which at times in fact motivated them to participate in research that they probably would not otherwise have entered—raising ethical questions that we will explore later.
WHY NOT TEST?
In opposition to these reasons to undergo testing, several counterarguments arose. Some of these cons cut across diseases, while others were more unique to one condition.
A key factor was whether treatment was available. For HD, for which no effective therapy exists, many people felt that testing would confer little if any benefit. If the result were positive, they could do little about it medically. Mary, a housewife who already had early symptoms, concluded that “there’s no point in finding out.”
Yet for breast cancer as well, these interviewees differ as to whether the advantages of testing outweigh the disadvantages. Kym, the South Asian doctor with a strong family history of breast cancer but no symptoms, felt that learning one has a breast cancer mutation without the availability of treatment (other than prophylactic removal of her breasts and ovaries), would be “a mental jail.” Others eschew testing because they do not like the potential treatment options—particularly, having to consider prophylactic surgery.
Many feel that a mutation-positive result will upset them, and they thus seek to avoid the news. A genetic analysis, they fear, would confirm their worst suspicions, and they would have trouble coping. They do not want to have to deal with diagnosis or its ramifications, and thus do not test. Patty, asymptomatic and untested for HD, said about her risk, “I push it under the rug. I am a very optimistic person, almost to the extreme. So, that’s how I deal with things: very much in denial.”
For breast cancer, too, anxieties about the possible result could block testing. Carol, who had cancer and a mutation and decided to have her breasts and ovaries removed prophylactically, observed that “a lot of women don’t want to be tested because of fear. That’s foolish.” Having opted for very aggressive treatment, she disparaged the alternative: avoidance.
Others fear that an assay could harm more than benefit them because they would become fatalistic. Bonnie, the 24-year-old who, at age 12, was terrified to see her mother’s breast cancer, is asymptomatic and opposes testing:
The information would hurt more than help me. When a test says, “Yes, you’re going to have cancer,” you risk feeling, “Why should I bother living? I’m going to have cancer anyway.” It would feel like a death sentence. There’s no point to condemning yourself, your life.
The assay would indicate whether she had an increased likelihood—though by no means a 100% chance—of getting the disease. Yet her memories of her mother’s illness made her fear the worst.
Younger people at risk for HD or breast cancer, in particular, may avoid testing because of their age. They have not yet made their major personal and professional life decisions, and fear that knowledge that they possessed a mutation would too powerfully mold their choices. In part, this foreknowledge generates stress because it is not clear how to respond. Bonnie expressed these existential quandaries, continuing:
It’s like someone says to you, “I see in your future: you’re going to die on a train.” Does that mean never leave the house? The test tells you the cancer genes are there. It doesn’t mean they’re going to be active. Why live with that fear in your life thinking: “I have cancer, I’m going to die”?
Those who already had breast cancer and then considered genetic testing may not pursue it because of fears that a positive result will depress them with the possibility of future recurrence. Karen, the lawyer with breast cancer who had not undergone testing, wasn’t sure if she “could deal with a positive result. I spend a lot of energy convincing myself: I’m three years out from my cancer. It’s time to start living.”
Explicitly and/or implicitly, many fear the potency of this knowledge itself. She added,
I hate palm readings and tarot cards, because I’m too susceptible to what they may say—too afraid that if they tell me something, I’ll make it true, or unconsciously make decisions to fit the predictions.
Knowledge of one’s fate can thus become imbued with metaphysical and magical properties. She fears that the test will somehow become a self-fulfilling prophecy, and that the information will acquire more power in her life. The potential danger would become less theoretical and more real. Consequently, some do not test because they want to think as little as possible about their risk. Kym, the South Asian physician at risk for breast cancer, opposed testing because it would then grant the disease potency over her.
I don’t want to give it that much attention. I’d rather just not know. I don’t want to start focusing on it, or giving it that much power, where I’d feel like I have to start doing preventive testing and procedures.
Her mother had both renal and breast cancer. Kym is terrified of both.
Resistance to these assays stems, too, from concerns that the results may not be completely accurate (even though they overwhelmingly are for these diseases) in detecting the presence or absence of a mutation. Therefore, these doubts about accuracy may represent or verge on rationalizations, but still be strong. Bill, the salesman who thought he would get HD because he looked like his dad, and who has not had symptoms or testing, said, “I’ve read that the test is not 100% accurate. The last thing I want is to find out, ‘You have it,’ and then not have it. Or they say, ‘You don’t have it,’ and then I do.” Thus he avoids testing, though he continues to fear he has the disease.
With HD, though not mentioned in prior literature, direct symptoms of the disease can themselves affect testing decisions. Denial may represent either psychological resistance to the possibility of testing, or direct psychiatric symptoms of the disorder that can impair personality and judgment. Cognitive signs of the disease itself can hamper awareness of other symptoms. Karl, who had been sexually abused by his affected father, said,
My brother was very resistant to testing. Maybe by the time I started discussing this with him, he was already symptomatic, which might have affected his discussion with me. He doesn’t know how sick he is. He can’t tell. You can’t tell him, and he can’t understand, because cognitively, he’s impaired. He keeps saying, “I’m fine. My brain’s growing back. Everything’s going to be cool.” But it doesn’t look cool.
Not Testing Because of Pre-Test Assumptions
As suggested above, assumptions of being mutation-negative could further reduce perceived needs to test, because of beliefs that testing would be superfluous. Yet these underlying assumptions about the result may be erroneous. Genetic tests could eliminate room for both doubt (i.e., that one is in fact, negative), and hope (that one’s fears might be unfounded). Bill, the salesman, decided not to test: “I’m 36, and have no outward signs. Doctors told me that if I haven’t had any outward signs by now, most likely I don’t have the disease.” He also feared losing his job.
He is aware that his assumption may be wrong, but still would prefer not to know definitively. Even though he appeared to lack the mutation, the small risk of being wrong frightened him more than the comfort he would receive from being right. He thus highlights both inherent human risk averseness, and the degree to which individuals, in the end, often view and weigh definitive tests far more than mere assumptions. Conclusive knowledge proves far scarier than inference alone.
Not Testing Because of Costs
As suggested earlier, financial costs can themselves also hamper testing. Individuals who do not have or want to use insurance could potentially pay out-of-pocket, but then have to weigh this expense against the perceived advantages. “I really wanted to be tested,” Patty, the fashion designer who pushes her HD risk “under a rug,” said, “until I found out that it costs almost $1,000 dollars. I don’t want to know that bad.” She and others have to weigh exactly how much they want to know vs. how much the test costs, tragically trading off one against the other.
Worries about possible discrimination, including job loss, also deter testing. These concerns often reflect anxieties about having to confront the disease directly oneself. Evelyn, the housewife who consulted a psychic, and is asymptomatic and untested for HD, said:
My sisters are so afraid that if their company finds out, they might get fired. They don’t want to be tested because of that. If I say, “Come to the clinic, it’s anonymous,” they still don’t want to know. I’ll say, “Guess what I just read . . .?” “I don’t want to hear it. If it’s not good news, don’t even tell me.” They didn’t want to know anything about it.
Unemployed, and asymptomatic, Evelyn was less afraid of the possible dangers of the information.
Breast cancer and Alpha, too, generate concerns about insurance and employment discrimination. Yet given the availability of treatment for Alpha, symptoms, when they became too severe, outweigh these apprehensions. “The people who test for Alpha,” Jennifer, a schoolteacher, observed, “are already very sick.”
While individuals who work in health care may be more likely to seek testing, others may be more wary of discrimination, and consequently avoid testing because of their professional background or experiences. For example, if she were not a lawyer working on health discrimination, Karen would have been tested. A range of personal and professional experiences can thus spawn fears of discrimination and deter testing.
Since genetic information is about not just one individual, but his or her family as well, families can have high stakes in any member’s testing decision. These members can pressure each other either to test or not. An at-risk individual may want to acquire genetic information, but not do so because of opposition from his or her family, or vice versa. Spouses, too, though ordinarily not at risk of having each other’s mutations, are much affected by each other’s decisions and can exert strong force. Partners may want a genetic analysis in order to get an answer and resolve uncertainty, though they will then have to cope with the stress if a mutation is found.
Testing to Help Others
Many test because they think the information can help their kin. Such testing might be seen as benefiting adult relatives in making testing, treatment, or reproductive decisions. Yet as we will see, questions arise about how and when to balance such altruism (testing for the benefit of others) versus autonomy (one’s right to decide what is best for oneself). Surprisingly, with regard to genetics, issues of how to negotiate these tensions have received little if any attention. One’s own views of how one should balance altruism versus autonomy and self-interest may clash with how others think one should weigh these competing principles. Quandaries then emerge of how to proceed—how to weigh one’s own versus others’ views.
On the one hand, several women tested for breast cancer because they felt it would help their sisters confront risks of the disease. Denise, a banker with breast cancer and a family history, said,
I got tested because if any information can be useful for my sisters, mother, or niece, I wanted them to have it. Since I had cancer, nobody was going to discriminate against me at this point. The driving force was: maybe my sisters could have it.
Luckily, she learned she lacked the mutation. Yet uncertainties remained as to the implications for her relatives. She continued, “If I tested positive, they might have considered getting tested. Everybody breathed a sigh of relief that I was negative. But that doesn’t really mean that they’re negative.” Still, her results lowered the likelihood that they had the BRCA 1/2 mutations (i.e., that her cancer was genetic).
Samantha, a single actress in her twenties with breast cancer but no family history or mutation, went further, declaring that, “the only reason to test,” if one already had breast cancer, is “for the sake of your family.”
Nonetheless, some who have a family history of breast cancer, but no symptoms themselves, may also undergo genetic testing in order to help others. Joan, a psychiatrist, had an extensive family history of the disease, but was asymptomatic. “I think of myself as using my body to educate my children,” she said. She tested after her daughter’s diagnosis. “I wanted most to alert everybody in my family—the kids—to the possibility of genetic transmission. They have to pay attention to this. I would like my daughter to get genetic testing.” Luckily, Joan found she lacked the mutation.
Ori, a 55-year-old Israeli with breast cancer but no family history, also tested to help her daughters. She felt that her daughters had not taken care of their health as well as they should. Testing can then become part of larger ongoing family tensions and dynamics.
I thought: if this is genetic, I should know, to guard my 26- and 21-year-old daughters. They can avoid risk factors—mixing estrogen and alcohol, stressing the body with no sleep.
She felt that her daughters, more assimilated into the United States than she was, partied too much. She saw her own testing as another way to get them to alter their behavior. But she found she was mutation-negative.
Conversely, others decided not to undergo testing because they do not have offspring or relatives who could benefit from the information. Wilma, for example, with breast cancer and bipolar disorder, thought testing would not aid her or her family because “I only have a brother, but no sisters, and no children. If I had sisters, or girls, I think I would go for it: to protect them, so they could take the proper precaution, like tamoxifen.” She does not think the information would help her in any way, and unlike some others, she is not interested in obtaining the information for its own sake. In part, she feels she already faces enough stress, having manic depression and cancer. She admitted that men can get breast cancer, but she does not feel that the prevalence is high enough to warrant her testing for her brothers’ sake.
Relatedly, others tested only when they decided to have children. Reproductive desires could thus impact decisions to test, particularly for HD, given its lethality. Bill, the asymptomatic, untested salesman who fears developing HD because he resembles his dad, said, “if I was going to try to have children, I would find out. And if I had the gene, I would consider adopting, or using donor sperm and egg.”
Conversely, others, if HD negative, would have a child as soon as possible. “If I’m tested and it’s negative,” Pablo, the Latino artist, said, “I’m going to get my girl pregnant as soon as I can afford it.”
Yet reproductive issues are not decided unilaterally. Rather, they involve spouses, and multiple other factors, “accidents,” and desires. In these contexts, genetic results can potentially tip the balance one way or the other. John, who dropped out of graduate school because of his HD risk, was asymptomatic, but tested in the end to prevent transmitting the mutation if he had it.
When I learned there are ways to protect yourself from carrying a fetus with HD, I said: I’m going to do that. I tested so I could protect my kids from HD, and free myself from all this worry, and my wife could avoid IVF. The negatives were just: if I tested positive for the gene, it would worry me.
He alludes to the fact that individuals at risk for HD can opt for pre-implantation genetic diagnosis (PGD), in which patients undergo in vitro fertilization (IVF) and screen embryos for mutations, implanting only mutation-negative ones into the womb. But, in part as a Catholic, he opposes IVF. He also illustrates how people weigh several competing reasons. In the end, he values his perceived responsibilities to his wife and future children over his own potential distress, and decided to test. Fortunately, he found he did not have the mutation.
A few tested for even broader altruistic reasons—to help not only their family, but science more widely. Harriet, an African American schoolteacher, had indeterminate results (in part since fewer African Americans than Caucasians have tested). Still, she would encourage others to undergo genetic analysis to aid science and others in society. “Even if there is no care for you today, it can help somebody else, give them strength,” she said. Still, balancing the benefits to others versus the potential harms to oneself can be difficult.
Albert, a policeman who tested for HD only when his children were thinking of becoming parents, wondered afterward if his decision was right since he found that he had the mutation, which horrified both them and him. He faced a terrible tradeoff—ignorance versus knowledge and fear—highlighting these dark, stark choices.
Yet individuals may also test for family members who do not then appreciate the act, or want the results. Rhonda, the nurse, who at age six had seen her mother die of breast cancer and now had the disease herself, tested in large part for her aunts. Yet only one of them ended up being interested in the results, and not sufficiently so to undergo testing herself. Rhonda was surprised—suggesting how even family members can have difficulty gauging each other’s interest in genetic analysis.
Adult children may also fear—and avoid learning—the results. Laura, the graphic designer, said that her mother checked for BRCA mutations to help Laura, who then, however, did not want to know the result—due not to denial, but to fears of discrimination. “I didn’t want my mom to tell me,” she said. “I don’t know how paranoid to be about being discriminated against in getting health care.” If Laura didn’t know the result, she could truthfully claim ignorance of any mutations in the family if an insurance company asked her.
Yet family members can proceed further, and in fact push each other to undergo genetic assays. Spouses, siblings, and parents often feel strongly that a family member should get tested, leading at times to pressure, conflict, and bad news. Testing decisions can thus get made in the context of complex family dynamics. “My wife wanted me to get tested,” Brian, the former teacher who learned of his HD risk when contacted by a long lost relative, said. His wife “wanted an answer. So she pushed me. After my mother’s death, I was depressed. She thought that having the test would eliminate one possibility. It turned out just the opposite.”
The reasons for pushing a relative to undergo an assay varied somewhat with each disease and each person’s role in the family (i.e., as a parent, sibling, or child). With breast cancer, individuals often thought that genetic information could potentially motivate certain family members to recognize their risk and monitor themselves. Parents, in particular, may push adult offspring to undergo testing. Susie, who worked for an HIV organization, had benign ovarian growths and a family history of breast cancer on her father’s side. Her mother thus pressed her hard to test, without acknowledging the potential disadvantages. Susie was asymptomatic and aware of potential health discrimination and resisted testing, but eventually succumbed in part to placate her mother. Fortunately, she found she lacked the mutation.
Such pressure can be hard to oppose, though it impinges on one’s own autonomy and right to make decisions for oneself. Thus, at times people balanced their own desires to avoid testing against their perceived obligations to others. They often prioritized assistance to their children over both fears of discrimination to themselves, and stresses of learning that they themselves had a mutation.
In the end, pressure from others could be the decisive factor, but also produced strains, concerning not only whether but when to test. John said that his sister-in-law pressured his brother to get tested “because she wanted to have kids.” John’s brother, “delayed, which she resented,” causing ongoing intra-familial strife.
Families may vary in the degree of pressure they apply. Siblings may not encourage each other to test as much as they try to persuade others in the family, who might transmit the mutation, to do so. Families may also not push a member whom they see as fragile. Antonia, a neuroscientist, asymptomatic for HD, found that she lacked the mutation and then tried “to push my brother into testing” because she sensed that he had early symptoms. “But we’re very different: I am very open, outgoing, confident,” she said. “He is totally the opposite: very shy, stuttering, much more delicate.” Yet such traits, potentially indicating the disease, may also impede decisions to test—to elude receiving bad news about which one can do nothing.
In encouraging a genetic assay, families frequently appealed on moral grounds, arguing that for a member not to test was unjust to them. Karl, sexually abused by his HD-affected father, thought that his untested but possibly symptomatic brother should be genetically screened. Acutely aware of the potential dangers of HD symptoms in a parent, Karl argued, “it’s fine for you not to get tested, but it’s not very fair for your wife and children.” Not surprisingly, such pressure may be unwelcome.
To avoid any such coercion, some discussed these decisions with few people—at times only with their spouse. Yet these issues can then become shrouded in secrecy, and individuals may forego support that they might otherwise receive. A person may also pick and choose with whom to discuss this decision, in order to receive support for his or her own inherent preferences.
As we will see, testing decisions get made within the context of family dynamics that can shape how these issues of altruism versus autonomy are framed and approached.
Family Opposition to Testing
As suggested, family members can not only encourage testing but deter it as well, prompting conflict. A person may seek not only to push for testing, but also to prevent certain relatives from undergoing it—for the sake of either him- or herself, or others. Desires that a person does not test can range from mild preference to active blockade.
“The only thing stopping me is my husband,” said Evelyn, the asymptomatic mother and housewife. As an interim action, she had thus consulted a psychic. She added:
I want to get tested by the time my oldest son is 18. That’s the magic number I have in my mind—he’ll be an adult. I have two more years. I’m not pressing it now. But I will. My husband disagrees: We have such a good life right now, why chance that? . . . He’s scared I will find out I carry the gene, and be nervous or sad. We’re going to fight about this. Ultimately, I’m going to test—for the kids, and for me.
He opposes her testing in part because he wants to have another child beforehand, and wishes to avoid stress on her and their relationship. Evelyn has to weigh her perceptions of the benefits to both her and her children against her husband’s perceptions of the potential harms. Some resolve this tension by agreeing not to test now, and deferring it to the future. But eventual consensus may be hard as well.
For breast cancer, too, family members often oppose an individual getting tested because it might suggest that they themselves have the mutation as well. Rhonda, the nurse who as a 6-year-old had seen her mother die of breast cancer, and now has the disease and the mutation, added,
Though people in my support group who are already diagnosed are all interested in getting tested, their family members have reservations, because [they think] “if she has it, then maybe I do. If my sister has cancer, fine. But if she’s got cancer and that gene, then maybe I have the gene, too.”
Even patients who already had breast cancer may oppose a family member testing, since a mutation-positive result would mean that these patients themselves are then at risk of disease recurrence and should consider prophylactic surgery, and could also transmit the mutation to offspring. Therefore, these patients may not want to know the results if their family members undergo testing.
Patients may discourage siblings, too, from assaying genes. Karen, the lawyer with breast cancer but no testing, didn’t want her sister tested because “if she’s positive, I could be positive. I told her that if she tests, I don’t want to know that, or the results.” As a lawyer, Karen is also wary she might eventually have to disclose her sister’s result to insurers, and then face discrimination. Perceived inadequacies in laws to prevent insurance discrimination could thus impede communication in families.
Though family members may also oppose an individual getting tested because they feel that he or she is ill-equipped psychologically or too young to handle the information, disagreements about these judgments can arise. Paternalistic feelings emerge, too, that for others, ignorance is bliss.
With HD, given the lack of treatment and the possible psychiatric symptoms, at-risk individuals may even try to stop relatives from testing. Antonia, the neuroscientist, sensing early HD symptoms in her brother, eventually concluded that he would not cope well with the result.
I think my brother has it. That’s why I don’t push him anymore to get the test. Huntington’s people get a look in their eyes . . . even when there’s no signs or symptoms—a glazy, spaced-out look.
Desires to avoid secrets or painful disclosures to children, if the result were positive, could also prompt avoidance of testing altogether. Tim, the lawyer with the mutation but no HD symptoms, said, “My brother’s decision not to test had to do with his kids . . . You don’t really want to tell them, “Oh, by the way, you have a fifty-fifty chance of getting this disease.”
Alternatively, patients could test but not tell younger offspring the results. Still, keeping the knowledge secret can itself create burdens and guilt.
People may also simply worry about a family member who finds out he or she has a mutation but cannot do much about it. Such relatives may then feel only anxiety or guilt. Isabelle, the social worker with breast cancer and the mutation, said:
My mother said she thought she should also undergo testing. I had mixed feelings about it. She’s healthy. What’s the purpose at this point in her life? She’s not going to have preventative surgery, but just be left feeling guilty because she passed it on to me.
As a social worker, Isabelle was very aware of the possible psychological difficulties that could ensue.
Roles of Health Care Workers in Testing
Clinicians can also shape these decisions one way or the other, though varying widely in their knowledge and comfort regarding genetics. Though genetic counselors are trained to be nondirective, physicians are taught both implicitly and explicitly to be more directive. Still, individual practitioners range in their approaches. Linda, the art teacher who eventually tested to eliminate the “HD nightmare” and lacked the mutation, said,
The clinic staff thought I should get tested. Just a couple of the people did not give me the feeling that I would be a bad person if I didn’t get tested. My GP and Ob/Gyn were like, “You should be tested. It’s irresponsible if you don’t.” Easy for them to say.
For breast cancer, too, clinicians may encourage testing implicitly or explicitly, and their recommendations can be hard to oppose. Karen, in part as an accomplished lawyer, has thus far resisted these inputs, but is heavily affected by her providers’ views: “The doctor just saying, ‘I think you should be tested’ is very powerful.”
Physicians can push strongly for testing. Samantha, the actress, supported holistic, non-Western views of disease and treatment, but agreed to a genetic assay simply to silence her doctors. She was 27 and had breast cancer, but no family history.
Everybody kept saying, “You really have to get this done. You would only get this disease because of a gene.” I was freaking out: “No! Forget the gene.” I tested to shut everybody up.
She felt conflicted in part because of her belief in complimentary and alternative medicine (CAM). “I was making my doctor mad, because my beliefs basically threatened his whole life,” Samantha explained. “He always says, ‘Stop the herbs and colonics. It can stir up cancer cells.’” In the end, she recognized the need for the test, given her risk for ovarian cancer, but she resented the pressure. She turned out not to have a mutation.
Physicians may be overeager to test, overvaluing a test for its own sake, and undervaluing the possible psychological and ethical costs. Some even proceeded to test children without parental permission, reflecting in part deficits in knowledge about relatively rare disorders and the ever-growing field of genetics. Betty, a designer who has to carry a portable oxygen concentrator machine in a bag wherever she goes, reported:
My son went to new pediatricians. I told them I was Alpha. The doctors were more recently trained, and tested him for it, without telling me. The doctor was just overzealous—interested in disease. I assumed they’d first ask.
She knew that her adolescent son was too young to have symptoms, and she wanted to spare him as long as possible the stigma and ordeal of possible treatment. The doctor’s overzealousness was well-intended, but unnecessary, and potentially dangerous.
Obstacles from Providers
Physicians, because of explicit or implicit attitudes or behaviors, can not only encourage and push testing but hamper and even impede it. Some doctors may be biased by being overly wary of genetic knowledge. Ron, who continued motorcycling despite his HD mutation, felt that providers “tend to terrify you to a certain extent, in hopes of scaring off anyone too sensitive.” He recognizes the reason for their intense scrutiny, but finds it uncomfortable.
At other times, providers may go too far, opposing testing because of their own personal attitudes or knowledge deficits. Antonia, the neuroscientist asymptomatic for HD, said,
My doctor told me, “Go away. Don’t be silly. Why would you want to have a test? There’s much more chance of you dying of a heart attack or breast cancer. You shouldn’t worry about it.” I didn’t like that response. But I didn’t do anything about it for a few years.
His response served to delay, but ultimately not prevent, her testing. Eventually, she found that she lacked the mutation, but she remains wary of GPs’ involvement in genetic testing and sees a need for specialized expertise.
Providers may oppose an individual’s reasons for wanting to test, and challenge his or her desires. Evelyn, asymptomatic for HD, whose husband opposed her testing, reported:
The staff said, “You’re not being tested for a reason such as wanting to start a family.” I did not have a good reason. I just wanted to know. They didn’t think that was a good enough reason.
In part as a result, she consulted the psychic.
Due to their insufficient knowledge, providers might also not suggest or order testing because they do not know to offer it. Genetic tests are increasing in number, and doctors in various fields are often inadequately trained, or prepared to deal with these assays. Alternatively, physicians may know enough only to raise the topic, but not to follow through with it. They may not be able to refer patients to genetic counselors, or prepare patients for the complexities involved. Susie, who worked for an HIV organization and had benign ovarian cysts and a family history of breast cancer, continued,
My gynecologist said, “I don’t know much about the testing. But I know you’re at high risk. Why don’t you get counseling?” She couldn’t tell me much, which was off-putting. Maybe she doesn’t want to talk about it for an hour because she has other patients. But it was unsettling.
Susie eventually found that she lacked the mutation. These issues are of concern since patients are confronting these issues in an increasingly fragmented health care system.
THE STRESSES OF WEIGHING PROS AND CONS
These decisions cause confusion because they require weighing relative risks and benefits, all clouded in uncertainty. These multiple competing pros and cons require balancing both intra- and interpersonal conflicts. Testing could reflect and affect deep-seated feelings about oneself—one’s body and future—generating enormous internal struggle and a wide range of emotions. Linda, the art teacher and mother who tested to escape the overwhelming “HD nightmare” and discovered that she lacked the HD mutation, said,
At the beginning of the decision process, I dreamt: I had this insect larva that was propagating madly. I couldn’t stop it. My husband said: it’s because you can’t stop the life already started.
People tend to be risk-averse,33 but the individuals here reveal complicating concerns—risks in both directions. These interviewees vary in where they perceive the highest risk, and what actions they must then eschew. These decisions force them to confront competing, inherently subjective perceptions of danger—for example, the burden of possible bad news versus the potential relief of a negative result; and the anxieties of not knowing versus the risks of feeling stressed if the result is positive. “If I have the HD mutation,” Chloe, the 28-year-old asymptomatic secretary who worked with her sister and feared she was turning into her father, said, “it would be much more damaging than the relief of knowing I don’t have it.”
Risk aversion could also prompt decisions to undergo testing to avoid the chance of later being shocked if one develops symptoms without having adequately anticipated them. “Better safe than sorry,” Carmen, the former clerical aide who had both thyroid and breast cancer, said. She also felt that “maybe they will find some treatment.”
These calculations entail not merely the statistical odds of each risk occurring, but the emotional valence and implications of each possible outcome. Individuals might try altering each others’ assessments in these calculations, but to little avail. Even family members, with the same perceived risk, differ widely in how they weigh the relative chances on each side.
Most people agreed that ultimately, each person had to face these existential dilemmas and decide for themselves. Even support groups try to maintain neutrality, urging caution in these decisions. As Linda, the art teacher who eventually found she had no mutation, commented,
I would never advise anybody. The most respectful and true thing I can do is just acknowledge the situation they are in, and let them hash it out. Any advice I got was toxic.
Others would offer only general advice (“make sure you’re able to handle bad news”), not definitive answers.
WHEN TO TEST
These competing pros and cons of whether to assay genes also affect when individuals decide to do so. Testing occurred in not only social but temporal contexts—amidst shifting psychological and biological processes. Other types of medical tests occur much more closely tied to periods of disease or treatment. But genetic testing can reveal a constant, permanent aspect of oneself, and can be performed at any time, before any symptoms may occur, or be delayed. Medical, psychological, interpersonal, and logistical factors therefore play key and complex roles here. How do people approach these competing timelines? Surprisingly, these issues have received almost no attention.
On the one hand, some seek to test immediately, or very soon after learning of their risk. Yet clinicians and others generally dissuaded such haste—especially for HD, given its 100% penetrance. In retrospect, most eager patients came to see their prior haste as rash.
In the end, most decided to postpone HD testing, but to varying extents. Waiting times could be medically based—delaying until symptoms become clear. Some individuals ended up observing early symptoms or suggestions of disease for several years before seeking genetic analysis. Often the final straw was when symptoms progressed to the point where key functions were impaired, such as driving a car. Roger, a single 33-year-old man, initially resisted testing and possible symptoms of HD:
But two years ago, my balance and driving started getting much worse. One day, the car veered off the road. At that point, I wanted to get tested. I was at peace with what was going on.
For breast cancer, too, assays often occurred only after particular medical events—either one’s own or those of family members. Susie, who worked for an HIV organization, tested after developing benign ovarian growths—a “tipping point”: “These cysts tipped the balance. At that point I had to know: it’s real. It could happen. I’ve had many relatives die of cancer, but was getting more anxious.” Still, she delayed for several more months.
Embarking on such a momentous decision can require first gathering more social support, and carefully considering all the alternatives—which can take time. She added,
I needed a reality check from rational people I trusted, who love me, to say, “Testing isn’t ridiculous, you’re not obsessed.” I have a very supportive partner. But it took a little while to get there.
She sees herself as generally not procrastinating once she makes a decision—though arriving at this decision took time.
Some resolved these conflicts by bargaining or negotiating with themselves or others that they would test at a certain point in the future. For instance, several people who confronted HD vowed that they would check for the mutation before having any children. In the meantime, they deferred from making a decision. For breast cancer, too, several people decided they would test in the future, prior to having offspring.
Others, who already had children, thought they would check for mutations before becoming grandparents. But to prearrange such timing could prove difficult, since it involved the prospective parents’ actions. “I wanted my children to have all the information available before they had children,” Albert, the policeman who ended up having the HD mutation, said. “But one had a baby quicker than I thought.” Adult offspring may become pregnant without forewarning.
Others waited until they had more resources—funds for the assay or insurance (to avoid later having a “pre-existing condition” that could impede insurance). At times, genetic counselors explicitly advised patients to delay for this reason. Karen, the lawyer, said about breast cancer,
Since my diagnosis, I have tried to buy additional disability, life, and long-term care insurance, but have been told I have to wait five years out from my cancer. So, if I were smart, I would probably buy all of that insurance and then get tested.
She and others fear discrimination, and are wary of the protection that legislation might provide—in part since laws can change.
Alternatively, others waited because of psychosocial reasons, such as until arriving at particular personal or professional junctures—getting married, having children, or being at a “stable point,” defined in various ways. Oliver, in his twenties, decided to continue to pursue a PhD despite learning he had the HD mutation. His sister decided to delay until she was more secure—“to be at a more stable moment in her life: when she had support.” Yet understandably, some simply end up continually deferring.
Some undergo an assay only when having to face major career decisions. The uncertainty of not knowing how to move forward professionally could outweigh fears of having the mutation. “I had known about it for a decade,” Antonia, the neuroscientist, said about her risk for HD, while lacking any symptoms.
It came to a point where not knowing was as bad as having it. You convince yourself you have it, so you might as well find out . . . It was the uncertainty of not knowing: should I go on to do a PhD, or have kids early and get a house and a mortgage—career or family? . . . If I had HD, I would have a family. It turns out, I didn’t have the gene, so I did my PhD.
If she had had the mutation, she would have chosen a different career. “I would have changed paths totally, and made money, to have financial security,” she said. “I wouldn’t have had the luxury of just pursuing what I wanted to do.” Fortunately, she turned out to be mutation-free.
Testing may be delayed, too, until reaching certain milestones such as a particular age. “I was turning 40,” Ron, the motorcyclist, said. He hadn’t perceived any clear symptoms of HD, but he “didn’t want to be 65 and find I didn’t have it.” Unfortunately, he learned he possessed the mutation. Still, he continued to motorcycle to live life to the fullest.
Other family members’ medical events can also prompt testing. A relative’s death can powerfully shape decisions of whether and when to proceed. Such a death can have both direct and indirect effects—jolting an individual with harsh reality, and perhaps reorienting the person from caregiver to potential patient.
The counseling process itself is designed to compel individuals to fully consider all of these options—which can take time. Yet tensions could result if individuals want to move ahead more swiftly. “I was fighting with staff,” Evelyn, the asymptomatic mother, whose husband opposed her testing, said about her desire to proceed. “They said, ‘We’d really like you to wait six months.’ ‘How dare you tell me I have to wait?’” This imposed delay contributed to her decision to consult a psychic.
As one strategy for navigating amidst these conflicting currents, suggestions arose for at-risk individuals to begin the counseling process and consider genetic analysis earlier, and reassess with the passage of time. Karl, who had been sexually-abused, and then ran away from home, said, “I’d tell others not to get tested, but to participate in the testing procedure and see what happens.” He valued “doing something” to resolve problems. Time itself could help.
THE TESTING PROCESS ITSELF
Once deciding to test, many people encountered challenges as part of the counseling and testing process itself. Experiences vary widely in ways that could influence subsequent events. Institutions that provide genetic assays range from specialized centers with strong social service supports, to GPs’ offices. Clinics differed widely in their experiences and abilities with diagnosing and testing. Some had handled few, if any, prior cases. Pablo, the Latino artist, untested and asymptomatic for HD, reported:
My sister is in a private hospital. The doctor said they were 90% positive it was HD, but wanted to test. I said, “Has the hospital ever dealt with HD?” They said no. “Has the doctor personally ever dealt with HD?” No . . . “Has anybody in the team ever dealt with HD?” No. This pissed me off.
Differences emerge related to how and to what degree physicians, as opposed to genetic counselors and other clinicians, were involved. A few individuals felt that physicians tended to favor testing, while nonphysician health care providers (e.g., genetic counselors) were more wary—perhaps as a result of differences in professional training. Linda, the art teacher who was mutation-negative for HD, said,
Medical people tend to have a definite opinion one way or another, and are not afraid to let you know. Maybe that’s why social workers tend to swing so far to the other side . . . to be a little bit more respectful about how hard it must be; and acknowledge that they have no idea what you’re going through.
Physician training emphasizes more directiveness, and doctors often have less time to address patients’ psychological difficulties.
Variations in Quantity and Quality of Counseling
These individuals also provide many insights about the counseling process itself that are important as the amounts and types of genetic testing expand. Counseling experience varied from good to bad—from relatively more to less helpful or traumatic. From the very initial contacts—even the first phone call—patients evaluated their counselors, which affected eventual decisions of whether to test. “On the phone, the genetic counselor sounded very reasonable,” Beatrice, the math teacher with breast cancer, said. Beatrice ultimately tested because, if positive, she wanted to have her ovaries removed: “I went to meet her. Within five minutes, I knew I wanted to do it.”
Trust plays an important role in these decisions, yet is strongly shaped by perceptions. Diane, a Spanish language teacher, underwent surgery for a lumpectomy and woke up to find that the surgeon had instead performed a mastectomy because he thought it was indicated. Later, a doctor suggested genetic analysis.
At first, I was not convinced. But I liked this doctor—her approach. Some kind of a trust established right there. That made me consider it. I didn’t reject it outright, which I usually do from doctors.
Despite her prior wariness, she underwent the assay, and learned she lacked the mutation.
Yet occasionally, counseling was minimal, leading to negative experiences. Karl learned that he lacked the HD mutation, but was nonetheless dismayed by the process. “This doctor wrote the prescription for the test,” he said. “That was it . . . No counseling, no nothing, just that. That was a mistake.”
The process can be highly traumatic because of what it represents—the possibility of disease and even death. Not surprisingly, anxieties persisted throughout these processes, even after individuals decided to have blood drawn. Fears can hover not only before and during the counseling, but even after individuals decide to proceed. “It’s a sword of Damocles hanging over you,” Karl continued. “Especially the period between giving them the blood and receiving the results.”
At other times, more counseling occurred, but still fell short—providing insufficient follow-up or support over time. Albert, the policeman who checked for the mutation to help his children and found he had it, reported:
The doctor said, “If you need to come back, talk to us” . . . I called . . . but they were moving the office. I tried to reach out, but couldn’t get anyone . . . They never got back to me.
These worries can culminate in picking up the results. Counselors themselves also responded to these fears by, for instance, agreeing not to know the result before revealing it to the patient. As Linda, the art teacher who found out she lacked the mutation, said:
I was most scared about the walk from the waiting room to where they were going to tell me . . . How the hell do you walk from one place to the other with a person who knows? So the counselor actually set up this elaborate plan where she was not going to know, and was going to pick me up and walk me from the waiting room to the room where I found out. So I wouldn’t have to walk with someone who knew when I didn’t know.
She highlights the multiple complex stages involved in this process.
For breast cancer as well, anxieties and uncertainties continue, particularly during the waiting period. Women here, too, wonder whether the counselor yet knows.
Providers, regardless of their sensitivity, can reveal their suspicions and knowledge of a diagnosis through not only verbal but inadvertent, nonverbal communication as well. When becoming aware of a patient’s risk or symptoms, providers may change even their tone of voice. “We saw the counselor’s face, and knew in two seconds,” Simone, the 29-year-old bookkeeper, said about learning that she had the HD mutation, “because she is a very ‘la dee da,’ very happy person.” Simone felt immediate horror.
Genetic counselors may relay breast cancer information nonverbally, too. Laura, the symptom-free graphic designer whose mother had breast cancer and had tested to help Laura, who then did not want to know the outcome, said that the genetic counselor had a student observe the meeting. Laura then guessed the result.
When I got there, the counselor asked if this trainee could sit in. That’s when I knew — why would they ask somebody to sit in if the results were negative? She didn’t beat around the bush. She told me right away—which is best. I started crying, and she talked . . . about plans. They sat there for as long as I wanted. But I just wanted to go home. I get tearful even remembering it.
Genetic counselors may indeed have more time than physicians to handle the emotional issues that erupt.
Yet providers may be insensitive, informing patients of genetic diagnoses in inappropriate ways. Ron, the motorcyclist, said about his father’s HD diagnosis:
He was in a hospital, and wasn’t told. All these students were brought around him, and the doctor said, “This man has Huntington’s, which is yadda, yadda, yadda.” My father didn’t know . . . That wasn’t very pleasant.
Given the terrible impact of learning one has a mutation, providers may not be as sensitive as they should.
However, with mutation-positive results, the process of giving the news can never be wholly positive, no matter what the process. Simone, the bookkeeper who only learned of HD in her family when she got engaged, and who deduced her mutation from her counselor’s face, added:
It was a horrible rainy day. I kind of knew, going in, because the weather was so bad: this is the day that you would get really bad news. We came in, and she handed us the letter, which we could open if we wanted to know the number of repeats [i.e., the extent of the abnormal gene]. We still haven’t opened it. Then we left. There was no counseling. Nothing. She called up over the weekend. But it was such a definite thing: here are the results, thank you very much. See you later.
The counselor may have in fact provided additional support but, under the circumstances, it did not register. The fact that Simone had only recently learned of this disease made it even more difficult to accept. As she suggests, superstition (the rain as portent) can freight these interactions.
In contrast, other patients feel that the counseling process is too long and intense—providing too much information, cognitively and emotionally, with the result that they feel overwhelmed. Even Susie, familiar with medical information from working for an HIV organization, said about the counseling she underwent due to her family history of breast cancer, “I was given good information, but there was so much of it! My brain spiraled into what-ifs. I was in a total haze. At a certain point, nothing was going in.”
Still, in the end, the “right” amount of information can vary—based on complex emotional and cognitive responses. Providers must gauge the appropriate amount of background, but may be inherently unsure. Given the ambiguity and incompleteness of information, a little knowledge can be potentially dangerous, fostering anxiety. “What’s too much is subjective,” Susie added. “When I got home, I was trying to figure out what it meant.” Moreover, some information (e.g., the number of DNA base pair repeats) may simply constitute too much data, because the implications are not wholly clear. Simone, who sadly surmised the result of her HD mutation testing from her counselor’s face, added, “She said they hadn’t correlated the number of repeats with actual onset, so there was no advantage of us knowing that.”
In this context, giving more written (as opposed to only verbal) information could be very helpful. When Carmen, the Latina former clerical aide with both breast and thyroid cancer, was told she had the BRCA mutation, “The counselor didn’t give me anything written. I forget things. I could have given written information to somebody else to explain it to me in simple words.” She underscores problems with educational levels, given the intricacies involved.
Counselors were often seen as playing the role of devil’s advocate, repeating the same questions. Yet in retrospect, individuals generally came to appreciate why the process takes so long. “They kept asking the same questions,” Karl explained:
“Do you really want to go through with this? Why do you want to do it? What purpose can it serve?” When I look back, I understand why . . . But they were persistent and annoying . . . They might just say, “Look, you’re going to get annoyed with us. We’re going to ask some of these questions over and over again, but there’s a reason . . . You just don’t know it yet.” They even may have said that, and I filtered it out.
Luckily, he found he lacked the mutation. Still, counselors could potentially establish expectations more realistically by more thoroughly describing the process in advance, ensuring that it is understood over time, and better preparing patients to expect this barrage of inquiries.
At-risk individuals with science training, in particular, felt that the process was not sufficiently flexible, given their prior understanding. Antonia, working in neuroscience, said about testing for HD, “the process can take six months . . . Most people would need that.” But if someone like herself “wants to know in a hurry, and knows his or her own mind, and is able to tell them, they should do it quickly.” Admittedly, if she had instead found that she had the mutation, she may have looked back at these practices differently.
Several lay people also felt that the lengthy procedure was not wholly applicable to them because they had already seriously considered and weighed the options. They felt that more flexibility may be needed. Tim, the successful lawyer who was asymptomatic for HD, said, “They really drill you. I felt I had a very good reason to get tested. I didn’t waiver . . . The process was right for the general person, but was a little annoying to me.” Nonetheless, in the end, he appreciated the rationale, in part because he learned he had the mutation.
For breast cancer, too, those who have had symptoms may have already strongly decided to proceed. Ori, the Israeli with breast cancer who underwent the assay to motivate her daughters, paid little heed to the genetic counselor. “I was very, very determined to have this information because of my daughters and granddaughters,” she reported. “So I didn’t care much what they said.”
Yet as discussed earlier, it can be difficult to know one’s own mind, and what is best for oneself. Indeed, with time, many who initially wanted to test immediately became aware, through counseling, of the complexities of these issues. Simone, the asymptomatic bookkeeper who learned about HD only when she became engaged, said:
We wanted to know right away . . . I didn’t need the counseling. But then, as it turned out, talking to staff here: “O.K., we’re not ready to go through with this.” The biggest question they asked us was, “What do you want to do if it comes back positive?” . . . That was the killer question. It took us a while to decide.
In this case, genetic counseling served its intended purpose well, prompting a patient to consider all possible scenarios, which turned out to be helpful as she subsequently learned that she had the lethal marker.
Simone appreciated, too, useful conceptualizations and metaphors that the counselors provided:
They said to view it like a New York apartment: You have a tiny New York apartment, and are so tight for space, and spend ages organizing your closet, because you only have one. That’s the same thing with HD: if you know this is the amount of time you have . . . make the best of it.
In large part, genetic counselors may be helpful due to innate empathy, not training per se. “She genuinely cares,” Simone added. “It’s not just part of her job or training.”
But others resisted or discounted what a counselor said, though to do so could leave them ill-prepared for the results. Vera, the marketing executive who was offered the assay because she was Asian and turned out to have a breast cancer mutation, had not really paid attention to the genetic counseling. Though she had had breast cancer, she was convinced she would not have the mutation, since none of her family members had had the disease.
The counselor went through the whole routine, explaining the consequences if the results came back positive, blah blah blah. I was like, “Well, I don’t think they will. I’m just doing this as a lark.” I didn’t give it much credence. But when I walked in to get the results, and saw another doctor with her, I’m like, “Oh shit, something’s up.” Maybe I should have taken her more seriously the first time.
In fact, Vera feels she had been dishonest with herself.
I thought I was up to hearing the results. But I wasn’t. So I lied to myself. I was fine when she was telling me [the results], too. But I couldn’t wait to get out of there. I went downstairs to a little piece of grass, and cried.
Certain other aspects of the counseling process proved very helpful—particularly posing questions that clients had not considered, and providing concepts to help grasp the phenomena involved. Many liked that genetic counselors were straightforward and sensitive. Susie, who had benign ovarian cysts but no breast cancer, and worked for an HIV organization, reported that “the counselor said, ‘I’m going to cut to the chase and tell you: you’re negative.’ I burst into tears out of relief.”
Referrals to mental health services can be especially beneficial. The Huntington Disease Society of America recommends “psychological and/or psychiatric screening” for depression and emotional support,24 and several individuals here were referred to psychiatrists who prescribed antianxiety medications as well. Hence, an added benefit of genetic counseling could be referral to mental health services that individuals do not otherwise access.
Psychotherapy can play key roles, and help in both making decisions about testing and accepting the results. Roger, who tested for HD after he veered his car off the road, can cope with the diagnosis in large part due to psychotherapy he began in conjunction with the testing process. “I’m really at peace right now,” he said. “Ten years ago, I would have been bonkers about the thought of having a genetic disease. But I’ve been seeing my psychologist.” Psychotherapy assisted him with acceptance, but can be helpful even if not leading to complete acknowledgment of one’s risk. Roger added that his sister was untested but, due to psychotherapy, “it’s not on her mind all the time like it was.”
Hence, psychotherapy can help with the threat of disease and the uncertainties inherent in decision-making, lowering the level of anxiety involved in these decisions. Consequently, mental health treatment can be an important adjunct to genetic counseling. Linda, the art teacher, lacked the HD mutation, but thought that no one should test without closely consulting a mental health provider.
Genetic counseling aided logistically, too, in encouraging considerations and plans regarding future insurance coverage. Before undergoing the assay, individuals frequently bought health and long-term care insurance. Genetic counselors have helped patients handle privacy issues, too—suggesting, for example, that patients ask their physicians explicitly not to include genetic test results in the medical chart. Clinicians may also know of research studies that offer testing for free, with added protections of confidentiality. Overall such knowledge proved rare, but highly welcome. As Benjamin, an engineer, from Maryland said about such a study: “The results are kept confidential, and can be destroyed immediately, so there’s no linkage back to you. And it’s all free.” Still, he lost his job because his company knew he could then go on disability due to Alpha.
IMMEDIATE POST-TEST REACTIONS
Responses to test results vary widely in both the short and the long term, depending in part on the disease and the results. Reactions can shift over time, from immediately learning the result until years afterward.
Those who tested negatively were of course relieved. For an individual who had children, or was considering the possibility of having them, the absence of a mutation was good news for not only him- or herself but for future generations as well. A mutation-negative result was especially welcome when it suggested that these children were not at risk. Cancer may still be in one’s family, but the test offered reprieve, even if not absolute. Susie, with benign ovarian cysts and a family history of breast cancer, but no symptoms or mutation, concluded: “If I hadn’t taken the test, I would have worried all the time.”
Not surprisingly, those who learned that they had a mutation were deeply disturbed by the news. Yet individual reactions varied, based on the specific disease, and the presence or absence of symptoms. Those with Alpha generally felt relief: a definitive genetic diagnosis made sense of their prior, perplexing symptoms, and reduced uncertainty. For Alpha, a mutation-positive result also offered concrete benefits: reduction of stigma and initiation of treatment. Dorothy, a former TV producer, now had to wheel around metal oxygen tanks in a cart, and was awaiting lung transplantation. Learning she had the Alpha mutation “answers questions. Like: why I was sick all the time as a child? In my apartment, cleaning, I would wheeze, and not know why.”
Those who smoked and learned they had the Alpha mutation found out that their symptoms were not their fault. Diagnosis reduced their perceived blameworthiness. Benjamin, the engineer, said about his test result:
I wasn’t happy, but was relieved. Prior to that, I was diagnosed with emphysema. I smoked, and probably caused my illness, even with a genetic component. But it gave me a reason why I had emphysema at 42.
In effect, he traded one label for another that he saw as less stigmatized: “I was glad it wasn’t just my smoking. I was now willing to tell people about my illness. I still felt tainted: I have this genetic stigma: I’m not a normal person.” But he now felt able to tell people he was ill.
Indeed, Dorothy wishes she had tested earlier, because she is now seen as blameless for her illness. “Now that I’ve been diagnosed, I’m treated nicer: ‘Oh, she has a disease!’” But in fact the difference may be due to the presence not of a disease, but of visible treatment and disability, and non-culpability.
Diagnosis with HD, too, can be a relief, though to a much lesser degree, reducing the uncertainty and constant worry of not knowing one’s fate. “I expected the test would come back positive,” Jim, a physician with the HD mutation, said. “When I actually found out, it was just such a relief to finally know, and not having to worry. Not knowing was scarier.”
Shock and Disappointment
Despite these perceived advantages, knowledge of a mutation disappoints most people. Shock arose from the fact that the information represents the prospect of illness and death in a very real way. Before testing, risk can be seen as abstract. With a confirmed mutation, it becomes far more concrete. “That knowledge affects everything,” Ron, the motorcyclist, said about receiving news of his mutation.
Many are shocked, too, because they are confronted with complex information concerning a disease about which they know little, or are confused. “We taped the meeting,” Dorothy said about learning she had Alpha. “We went back to the house and sat down and listened to it several times, trying to figure out what it was all about.”
Even those who said they had expected to test mutation-positive and had undergone genetic counseling felt that they hadn’t sufficiently anticipated how they would feel. Many were devastated. “After I had given my blood, I had forgotten about it,” said Laura, the graphic designer who deduced her breast cancer mutation from the fact that her genetic counselor had had a trainee join them. “The morning I got my results, I freaked out.”
Such reactions may be inevitable. One cannot predict entirely the full range and depth of one’s emotions. Those who had assumed they’d be mutation-negative and proved mistaken were especially upset, often completely shocked.
Even if one is intellectually prepared for the possibility of a mutation, denial and rationalizations can trigger surprise. Some thought they were too old to have HD. In the absence of symptoms, the diagnosis seemed even more abstract and surreal, and for offspring or kin, more frightening.
Over time, individuals tended to adapt to their diagnosis in various ways. Even with a mutation-positive result, most did not regret their decision to test. Generally, they felt that their choice was right for them. Still, retrospective assessment is difficult, and might be biased by prior assumptions, subsequent decisions, and cognitive dissonance—minimization of internal distress about past decisions, however painful the outcomes.
Not surprisingly, those who found they lacked a mutation had few regrets. But those who tested positive generally did not rue their decision, either. Oliver, for instance, was glad he learned he had the HD mutation, because it has helped him decide to do what he most wanted to do—continue to pursue a PhD. “The test itself has been an unambiguous, positive thing for me,” he said. “It made me feel that the decisions I made in my life were good—getting a doctorate.”
Yet even those who felt that testing was beneficial for them avoided recommending it for everyone. As Simone, the 29-year-old bookkeeper who only learned of HD when getting married, and then inferred her mutation from her counselor’s face, said: “What we did was right for us, but may not be for others.”
These men and women highlight several key aspects of decision making about genetic testing. Complex pros and cons prove hard to weigh. The varied contexts of these individuals’ lives—including past personal and professional experiences and social interactions with, and pressures from, family members, clinicians, and others—profoundly shape these choices, yet can conflict.
Decision making about genetic assays involves a complicated series of interrelated processes, including pre-test assumptions and self-monitoring, which pose numerous challenges. Intricate issues also shape decisions of whento undergo the assay, and counseling and testing procedures themselves vary widely, and are generally experienced as overly long, but ultimately helpful.
Many decision-making theories have focused on individual cognitive and emotional factors, drawing on psychological models and emphasizing traits of seeking or avoiding information and being risk-averse;30,33,34 yet the people here reveal how they make these decisions in the contexts of varied experiences, and dynamic relationships with multiple sets of others (spouses, siblings, offspring, and providers), and these social inputs can clash.
A few prior studies have mentioned perceived responsibilities toward others37 as a factor in testing decisions. But here, interactions with others constituted not simply a dichotomy of paternalism and coercion versus autonomy,22 but a broad and nuanced social terrain. An individual may be inclined to avoid testing, but overcome that tendency because the knowledge will help his or her offspring. Or, an individual may tend to seek information generally, but avoid this information because of fear of discrimination to one’s self or family. Doctors’ advice has been mentioned in two studies on genetic testing,54,55 but only a few studies have probed physicians’ rates of ordering genetic tests in general.39,40 The men and women here illustrate how doctors can play key roles in these decisions. While theories on health information have described traits of monitoring versus blunting, the individuals here balance these tendencies against other—at times competing—issues, including family members’ preferences. At times, individuals weighed the strength or degree of their tendency toward monitoring or blunting against the perceived degree of others’ wishes or needs. These traits may interact with pre-test assumptions and self-monitoring. “Monitors,” who see evidence of possible symptoms, may opt for testing more than do those who do not observe clear symptoms themselves—but not always.
While one prior researcher, Susan Cox,7 thought that approximately one-third of her sample “evolved” in their decisions,7 all of the individuals here engaged in a dynamic process in some way. Psychologists James Prochaska and Carlo DiClemente have proposed a “stages of change” model in which people go through four stages in altering health behaviors—from precontemplation to contemplation to action to maintenance.21,22 The interviewees here provide important added details and dimensions. For example, the men and women here suggest a range of particular critical components of a pre-contemplation stage—specific types of self-monitoring and pre-test assumptions, and problems involved.
Individuals wrestle with questions of not only whether to test, but when to do so. Some individuals have been noted to delay testing,22 but the people I spoke with illustrate specific medical, psychological, logistical, and interpersonal factors that interact and can shape timing decisions. Testing often occurred at particular junctures in one’s life, when one needed to make a key life decision.
The reasons offered for and against testing both resemble and differ from those identified in prior research,9,10,12 reflecting in part the fact that technologies have changed since several earlier studies were conducted. Since earlier linkage tests (in which labs test broader sections of DNA across family members, not single mutations in one individual) are no longer used, the difficulty of obtaining blood from relatives does not emerge here as a reason to avoid testing. Importantly, adults can also now undergo assays to decide whether they or their adult offspring should consider the expensive (and not entirely benign) procedure of screening embryos.56,57a Though in the past a leading reason to test was, “if my risk goes up, so does that of my children,”9 PGD now enables mutation-positive parents to avoid passing on the gene.57b
Despite legislation to reduce discrimination, substantial privacy concerns still arise. Surprisingly, these fears have been mentioned in few previous studies of testing decisions, especially not those conducted in countries with national health insurance.7 Certain factors mentioned in prior studies—“emotional reasons” and “other personal reasons”12—appear in fact to involve several complex phenomena. Many individuals test because they “just wanted to know,” but that desire often in fact relates to other factors (e.g., professional experience), and some who thought they were the type who want to know in fact turned out not to be so.
Pre-test assumptions of being gene-positive or negative, based in part on fears, are not always correct. Assumptions of positivity can prompt decisions to test (to confirm suspicions) or not to test (fearing the result), depending in part on the role of these other factors. These pre-test assumptions shape individuals’ decisions, but in turn also grow out of multiple factors: for example, self-monitoring, denial, misunderstandings of genetics, and varying levels of desire for information and of anxiety tolerance. Though one study in Scotland found that individuals at risk for HD felt uncertain about their risk,58most men and women here made assumptions, even if these later proved wrong. Uncertainty caused intense anxiety. Future studies can further probe whether those who assume that they have the mutation undergo the assay more frequently than do those who assume they lack it, and how often these pre-test assumptions prove right or wrong.
Similarly, yearnings to decrease anxiety can sway decisions either way. Individuals balance both present and imagined future fear against a range of other considerations. Significantly, individuals are forced to predict their tolerance of future anxiety, yet their abilities to do so can vary, raising questions of how at-risk individuals make these prognostications, and how accurately. With HD, anxiety can also result either directly as a symptom or indirectly from worries about the disease. Ego strength and denial of distress have also been suggested as predictors of distress,59 but may in turn be related to other factors, and hence be difficult to gauge.
The need for certainty also appears here as a trait in and of itself, suggesting the theory of “negative capability”—that individuals vary in their ability to tolerate uncertainty and ambiguity. This phenomenon is described by the poet John Keats as “when man is capable of being in uncertainties, mysteries, doubts without any irritable reaching after fact and reason.”60 The individuals here tolerate uncertainty to widely differing degrees. Fear of a bad result usually outweighed possible relief from a good result—which is consistent with theories that individuals tend to be risk-averse.33,34 Yet how individuals perceive and interpret risks vary. Hence, risk aversion may lead to decisions either to avoid testing, or to seek testing (to avoid the risk of later being surprised by becoming ill).
Clearly, balancing these competing factors is arduous. Indeed, dilemmas in medical ethics often entail weighing options that represent not good versus bad, but competing ethical goods.61 While some ethicists insist that one should adhere to set principles, and that these will provide clear answers and approaches to problems, others argue that in moral decision making, principles can conflict, and that pragmatism is needed, paying close attention to interpersonal processes such as those here.62 These men and women underscore, too, the need to assess social, historical, and geographic contexts, which have been underexplored. For instance, no studies on testing decisions have commented on possible differences among industrialized countries (Canada versus the United States, or the United Kingdom) with contrasting insurance systems. In a prior Canadian study, for example, some individuals never had any doubts or ambivalence about testing,7 while almost all individuals I interviewed did so. Indeed, for HD at least, testing rates appear higher in Canada than the United States.5 Such national and historical contexts are critical.
As we shall see, these highly personal decisions of whether and when to test, balancing desires and the need to know, probabilities of fate against fears of bad news and inputs from multiple other people, have profound implications. These conundra alter the lives of these interviewees as well as their family members—born and unborn.