These men and women struggle not only to understand their genetic risks, but to decide about possible treatments. They face dilemmas about not only testing and disclosure, but potential therapeutic options as well. The unclear predictiveness of genetic tests muddles the pros and cons of various treatments. Thus far, genetics research has uncovered causes of disease more than therapies, advancing diagnostics far more than treatments and creating uncertainties about how to respond.
As we will see, compared to other types of disease, genetics poses particular dilemmas because a person may learn that he or she is at risk or has a mutation, but never develop any symptoms or do so only years or decades later. Usually, symptoms of a disease prompt treatment. But with genetics, that is not always the case. Rather, knowledge of risk or a mutation can be far more abstract. One can lack any symptoms, yet still benefit from invasive interventions. Questions surface of how men and women navigate these tensions and figure out how to make the abstract real. They make these decisions in the contexts of complex interactions with family members, clinicians, and patient communities.
Challenges arise from the fact that these diseases have genetic bases, as well as other aspects of symptoms, therapeutic options, and treatment side effects. These other features of a disease, though not explicitly genetic per se, nonetheless form the backdrop against which individuals then confront additional implications of their disorder. These diseases each raise their own difficulties, but share several common themes.
THE STRESSES OF SYMPTOMS
Both physical and mental symptoms of these diseases produce stress. Symptoms vary from minor to severe, but can all carry great psychological and symbolic weight, foreshadowing future problems. Such symptoms can be the most difficult part of a diagnosis. As Yvonne, who had lung transplants for Alpha, said, “The hardest thing is just being disabled: Not being able to do what everybody else does.” If not for Alpha, many patients would have been more physically active. Dorothy, the former TV station producer reliant on an oxygen machine, added, “If I didn’t have Alpha, I’d climb mountains, do a lot more with my children.”
Due to its psychiatric manifestations, HD generates particular stresses. These symptoms can be the major challenges patients face, and prove more disturbing than cognitive deficits per se. But doctors may underestimate these difficulties. As Mary, the housewife with HD symptoms, said,
I don’t mind tripping, being stupid, or having memory problems. But I don’t like paranoia or anxiety. I can deal with just about anything, but anxiety. That’s my biggest obstacle. You can jerk around in the store, and still pick up fruit. But if you have anxiety, you’re not even going to enter the store.
The difficulties of these psychiatric symptoms astonish many patients. Jim, the physician with HD, was surprised at “how debilitating depression was: that it can keep you from performing your duties. When I was depressed, I couldn’t write down phone numbers. I just didn’t remember.”
As mentioned earlier, psychiatric symptoms can also impede treatment. Patients with psychosis or depression may fear and reject psychiatric care.
Mutations trigger fears of early death. But the predictiveness of mutations, even for HD, is imprecise. Poor prognoses may prove incorrect. As Benjamin, the engineer, remarked about Alpha: “People are told they’re going to die in a year or two, but are still alive 10 years later.” Nonetheless, to come to terms with the threat of such limited prognoses can be hard. Dorothy, a 59-year-old, added, “It’s sad that I’m not going to make it to my eighties. I hope to live for another 20 years, but I don’t think that will happen.”
These threats can foster fear and denial that can in turn hamper treatment. For HD, some eschew doctors and testing because of having to confront and acknowledge the disease, yet they may then delay help for treatable symptoms such as depression. Even Jim, the physician with HD, delayed such care. Though a doctor himself, he avoided addressing his depression because he feared it meant he had HD.
My depression was getting really bad. I wouldn’t even leave the house. In retrospect, I was just denying it. I was afraid of being diagnosed. That’s why I ignored it for so long. And when I was depressed, it was hard to think—that was part of the problem. I liked being a doctor, and doing what I was doing. I was worried I wouldn’t be able to do it anymore.
He suggests here a complex process of denial—part conscious and part unconscious. In the presence of genetic risk, early possible symptoms, even minimal or mild, can readily be feared as harbingering worse disease.
Yet despite his psychiatric problems, Jim thought it was nonetheless possible that he didn’t have the mutation. “Since I had symptoms, I knew the odds were higher—more towards 100 than 50. But there was still a chance that I didn’t have it.” Here again, individuals altered their perceptions of their risks based on their symptoms.
Patients often have poor insight about the presence, magnitude, and impact of psychiatric symptoms. “I was working on the wards, and got pulled off,” he continued. “There must have been something that happened, that I wasn’t doing right.” But he remains unsure of what that was.
HD symptoms can prompt rejection of help. Patty, who pushes the disease “under a rug,” said about her affected mother, “She insists she’s fine, but she’s unstable. A couple of weeks ago somebody stole her wallet, but she insists she misplaced it. She’s extremely stubborn. She’s not going to get any help.” Patty also tries to avoid thinking about her own risk. Yet once symptoms develop, poor judgment—a symptom of the disease—can in fact further hamper care. Patty’s affected brother even canceled his health insurance, further illustrating how symptoms can hinder treatment.
These individuals confront quandaries, too, of how much prevention to pursue. Alpha poses decisions of exactly how precautious to be, given the potential costs and benefits involved. Benjamin, the engineer, for instance, defended his visits to smoky environments despite the potential dangers.
I still go bowling, where you can still smoke. Is it good for me? No. A lot of people think I’m nuts for going in a smoky bowling alley. But what kind of bubble do you want to live in? What kind of walls? Stay away from your kids because they are a major source of infection? It depends on how much of a chance you want to take, and how much you want to shut down your life. I’ve got to have a little bit of a social life. I’ve always bowled.
He sees the dangers of smoke as possible, but not absolute, and makes tradeoffs between quality and quantity of life. Not surprisingly, family members can disagree as to whether and to what degree they should each take precautions. “My boys have respiratory problems,” Dorothy, the former TV producer, said regarding Alpha. “One is involved in clay and glaze. He wears a mask, but that doesn’t really help your lungs.” She thinks he should stop this work immediately, but he refuses.
Given the possibility of receiving bad news, individuals may also fear and avoid medical visits, and follow-ups can fuel anxiety. Waiting for test results can be tough—even for those who know they don’t have the mutation. Beatrice, the math teacher who had breast cancer along with her sister, but no mutation, understood risks very logically, but remained afraid.
The hardest thing is: every six months I go for a mammogram. During the six months, I try not to think about it. But during the last week, it plays games with my head. The worst is actually sitting in the corridor waiting. I just hope.
Treatments for these disorders vary in availability, effectiveness, and expense. Each therapeutic option poses potential benefits and risks that must be weighed.
As it progresses, Alpha can be treated with Prolastin, and later, potentially lung and liver transplantations. Yet these interventions all present personal as well as broader social challenges. Undoubtedly, genetic markers will disproportionately be found for rare diseases (such as Alpha). Yet since these ailments affect relatively few people, the demand for drugs for these conditions is less than for many other disorders. Hence, pharmaceutical companies have historically invested little money into research and development for these relatively ignored or “orphaned” conditions. The U.S. Orphan Drug Act of 1983 sought to remedy this, and did so to a certain degree for a few disorders, but not others.
TREATMENTS FOR ALPHA
Prolastin can replace the deficient enzyme, the absence of which causes symptoms, but whether, when, how often, and to what degree it will work is not always clear. Benjamin, the engineer, said,
There’s no scientific proof that Prolastin works. Most Alpha doctors think it works, but there’s been no clinical trial. In England, it’s not permitted. It was approved in the United States, not because it was efficacious, but because it brought down the blood level of active Alpha-1.
Uncertainty hovers concerning the drug’s effectiveness—which may vary among patients. As a former nurse, Kate is more aware of the subtleties of assessing medication effectiveness. “At best, it slows down disease progression,” she said. “But in some people, it doesn’t. In me, the progression continues. Who knows whether the drug is slowing the disease down or not?”
Importantly, for many years, manufacturers simply did not produce enough of the drug, leading to conflicts. As Dorothy, awaiting lung transplantation, described,
Every year, they shut down the factory, and none of us get it. Your name goes on a wheel, and comes up in 28 to 35 days, depending on how many people. Everyone gets it for 11 months of the year.
Many patients accepted the pharmaceutical industry’s claim that it could not produce more, but others were wary and frustrated. Individuals varied in whether and to what degree they accepted the profit motive of the main drug company (Bayer). Some people acknowledged the motive, or the need to triage the drug as legitimate. As Benjamin said,
Bayer claims they’re making the drug at their full production capability. But a lot of people are angry. The company improved its factory, but doctors are finding more Alphas. So the company can’t keep up with demand. There may be another product. Another company is now on the horizon . . . But I’ve heard of possible breakthroughs too many times before. It costs a lot of money to make these drugs. The company is not in it to be altruistic, but to make a profit. I understand that. People say Bayer should be making more, and not charging as much. I kind of agree. They say Bayer cornered the market, and is ripping off the community.
Many patients thus felt that they were victims of industry interests.
As a result of drug shortages, the Alpha community took upon itself the task of helping manufacturers ration the drug.
Yet these communities then had to address several challenges. Profound questions of justice surfaced concerning how the shortage should be handled—whether all patients should be cut back equally or new ones should not get any. As Dorothy explained,
Since there is not enough Prolastin, we’ve had arguments about who gets it. Doctors said it only works with moderate emphysema, so the community decided to measure people with moderate emphysema. But it was very hard to measure.
These thorny justice issues can be difficult to resolve, and communities may not be prepared to address these. As Dorothy wondered about the plan to target moderate disease, “Is that taking away from other people?”
In the end, the community helped ration the medication. Benjamin continued:
The community asked for patient allocation, which Bayer then did. Basically, you were put on a list. When your turn came up, you’d get some shipped. Bayer tried to ship enough, but if they were running low, they would later just stop shipping, and would resume where they left off.
Yet this triaging posed tough pros and cons, and added frustrations. He added:
At the same time, they raised the price 25%–30%. I didn’t like that. Prolastin is available only in certain countries. In Canada, some people can’t get it. In the U.S., anybody can enroll, but you just get put on the rotating list, and nobody gets enough. Last year, I got 10 months’ worth over the 12 months.
Many concluded that, given the constraints, the system was equitable. As Benjamin said,
It turned out fair. I think companies price-gouged, but other people disagree. Even if Prolastin doesn’t do a damn thing, Bayer funnels money into the community, for research. Maybe not for us, but for our kids.
Shortages had a range of unintended effects. Uncertain supplies of Prolastin generated anxiety, which individuals tolerated to varying degrees. Betty, the designer who carries an oxygen concentrator, “learned to stretch it out, and not panic.” But others worried far more.
Many patients responded to these shortages by strategically stockpiling the drug. As Benjamin observed, “One recommendation is: save it up. When you’re well, skip doses.” Patients were then acting in their own self-interest rather than that of the group—obtaining slightly more than they needed to cover possible later shortages.
Questions also arose about whether patient organizations, in distributing drugs, may then become too close to pharmaceutical companies. Drug companies can help fund patient advocacy organizations, but patients may be suspicious of such industry ties. Jennifer, the schoolteacher, added about Alpha,
There’s a valid criticism in the community that one Alpha organization is really a lackey for the pharmaceutical company, because that’s how the organization really became effective. The organization existed before, but was sort of touch and go. The company now paid them for their services, and for taking medication orders. They became a more viable organization.
In response to these shortages, some patients even felt that physicians have begun testing less often for the disease than before. “A few years ago, there was a lot more pressure to test,” said Peter, the Alpha support group leader. “Then doctors backed off, because of the shortage.”
More recently, pharmaceutical companies have managed to produce ample supply of the drug, ending these shortages. But these experiences, now past, are noteworthy in revealing the potential problems that orphan diseases may pose, and that, as we will see, genetic communities may therefore confront.
Alpha may worsen to the point that patients require portable oxygen and must carry around either an oxygen concentrator machine or heavy tanks on wheels. Such equipment poses added difficulties—immediately identifying individuals as ill. Initiation of oxygen can be hard because it represents a physical as well as psychological milestone, marking further onslaught of disease. The possible need for such oxygen thus incites deep ambivalence. As Benjamin described:
If I have oxygen, it means I really am sick, pathetic, unable to take care of myself, or to contribute to the world. I’d have no reason to live. I’m thinking now that I could still go on, but it took me a long time to come to that. I really admire Alphas on oxygen who keep going.
Alpha can also necessitate organ transplants, which present additional dilemmas. Renée Fox and others have written about some of the complexities posed by organ transplantation for other diseases—quandaries about how the limited supply of organs should be distributed, and how recipients think about donors, whose body parts are now inside them (e.g., how indebted to feel).1 But particular issues may arise more strongly here than with other conditions.
Though transplant may be essential when Prolastin no longer works, not everyone with Alpha is in fact eligible, raising questions of how to distribute a limited numbers of organs. Complications from transplantation can also present insurmountable barriers.
For Alpha more than for other disorders, whether to pursue the possibility of organ transplantation may be a patient’s own choice. Yet weighing marginal increments of quality versus quantity of life is hard. Nonetheless, some feel they would readily accept the risks. “I would want a transplant,” Gilbert, the factory worker, said, “if I can buy five good years, as opposed to 10 crappy ones. I might as well enjoy what I’ve got.”
Still, others are less sure. Organ transplants present complex challenges, having to weigh high potential benefits against high potential risks. Charles, the accountant, said,
The decision is going to be tough. Surgeons transplant a lot more hearts than lungs. The survival rate for lung transplants is about 70% for the first year. I’d probably die on the table. But, this winter was tough.
The waiting list for organs is long, and once transplanted, recipients’ bodies can reject them. Immunosuppression medications, designed to reduce the likelihood of such rejection, induce their own side effects, making patients far more vulnerable to infection.
Unlike transplantation as a result of injury to a particular organ, in the case of Alpha the disease continues even after organ transplant. Consequently, transplanted organs, even if not rejected, may have only limited success: they can reverse past devastation from the disease, but not stop future progression. The newly transplanted organs will themselves become diseased. As Charles said,
You’re really rolling the dice. If it’s successful, you’re only back to where you can dream about being healthy. Occasionally, I have dreams about having good lungs again. But, you are indebted to antirejection drugs for the rest of your life. Even a year after a successful transplant, you can still reject it. You’re changing one disease for another.
His fatalism contributes to his continuing visits to smoky bars.
In part, lung transplants are not always successful, due to recipients’ prior medical histories. Yvonne, who had lung transplants, said, “For me, it worked. For others, it didn’t. Another Alpha got transplanted with me. Last week, he died. He made it a year and a half.”
Patients may face quandaries, too, of whether to accept one lung, if it is available for transplant, rather than waiting for two. Dorothy, the former TV producer awaiting lung transplants, said,
You’re changing one disease for another. A university offered me one lung. But you could die on the table, and people with double lung transplants do better than those with a single lung. If you only wanted three more years of life, you can go with the single lung, but the double lungs extend your life more. You really need the two lungs.
Questions also arise as to when to get a transplant, and how to balance the status quo against potential benefits and risks of waiting. Dorothy continued, “It’s a tradeoff. I’m living, but can’t do anything. Maybe if I hold off another year, I’ll have an additional year to live. But a time comes when you just have to bite the bullet and say: it’s time.”
Still, waiting lists can take years, and promises of possible lungs are not always met. Donor lungs may seem to become available, but then not match. As Yvonne, who eventually received two lungs, said, “Mostly, you get ‘dry runs.’ They call you, and the lungs they have don’t match, or are the wrong blood type. Chances are you go there two or three times before it happens.”
Patients with Alpha, unlike those with other diseases, frequently also require more than one organ. Yet needed organs are usually not all available simultaneously. Patients then face questions of where to go for such an invasive procedure. Yvonne went out of state because a hospital there seemed better. But that decision ended up adding logistical problems.
At least in the short term, surgery can significantly reduce symptoms. After the operation she felt she was in fact “normal”: “As soon as it was done, I sat up in bed, and was talking and breathing without a problem. I was a normal person.”
Indeed, because of her new, transplanted lung, she felt she no longer had the disease.
I don’t think of myself as having Alpha now. I don’t have to take Prolastin. They explained that I have Alpha, but I don’t, because the new lungs don’t have it. The new lungs will get it, but it takes 20 years to develop. I used to read the Alpha newsletter. Less recently.
She raises dilemmas of what it means to have a disease, if the diseased organ has been removed. She now has only a slow disease process, but no current symptoms, highlighting a distinction between the cause versus the effects of a disorder—what it means to continue to have the causal process but no longer the impact of the disease. The former alone, because it does not impair her function, does not trouble her.
QUESTIONS OF JUSTICE AND ORGAN DISTRIBUTION
Worldwide organ shortage creates multiple conundra of how to distribute organs fairly, and optimally, and how to decide. Questions of who should receive the limited supply involve balancing competing demands based on age, prognoses, and patients’ culpability for their disease. These individuals reflected on how the larger system does and should operate. Yvonne said,
Who’s to judge? An 8-year-old got a transplant and maybe has 10 years. If I get transplanted, I get 10 years. But I’ve already lived 40 years. The child should have first chance, because 10 years means more to a child than to a 40-year-old. But I haven’t a clue how it’s divvied up.
Though she feels that the child, more than she, should receive an organ, she has already in fact received two. Hence she has few criticisms of the current system. Indeed, she feels that Alphas have an advantage: they can put themselves on the transplant waiting list before they actually need an organ. Yet she also suggests that Alphas may in fact unfairly take advantage of the system. Some try to jump the cue: since the disease is genetic, they can anticipate that they will worsen, and they can sign up for an organ before they actually need one. “The system now is kind of fair,” she said. “Everybody has to wait. But with Alphas, you’re way ahead of the ball game, because you know what you have.”
She admonishes patients to “game” the system in this way.
Alphas make a big mistake not getting tested and going on the transplant list. Just because you’re on the list, doesn’t mean you have to take the transplant. You can just keep saying, “No, I’m not ready.” Then, they keep bypassing you. That is what happened with me. I went on it five years in advance. I was at the top of the list, but wasn’t ready, so they just kept going by me. Which was fine. Because when I needed the transplant, I was there. If Alphas don’t do that, shame on them. Other diseases don’t have that time: in three months, if they don’t get transplanted, they’re gone.
Possible transplantation may thus also constitute an added reason to undergo genetic testing.
Yet she poses disturbing questions of distributive justice—how to determine the appropriate distribution of organs, and whether each disease should receive a quota, and if so, what. Dorothy, still awaiting lungs, added,
It shouldn’t be done by disease, but by individual medical necessity. Everyone should have equal access. One doctor believes that cystic fibrosis is not getting its share of lungs. But I don’t think it was ever their share to begin with.
Given the ongoing shortage of organs, these dilemmas continue to evolve.
QUESTIONS OF RELATIONSHIPS WITH DONORS
Transplant recipients face complex psychological issues, too, regarding their real and imagined relationships with their organ donors. Recipients often want to express thanks but do not do so, wishing to keep the relationship mutually anonymous. To receive the gift of someone else’s organ—to have part of someone else inside of you—challenges notions of selfhood, indebtedness, and guilt, and evokes notions of mystical connection. These relationships are odd, unique, and in many ways unprecedented. Yvonne, after her transplant, said,
Some people with transplants think: “part of this other person’s inside me,” or they feel indebted, or wonder about the other person. That’s very weird to talk about. You do have somebody else’s parts inside you. Some people want to know who the donor is. They want to meet the family to say thank you. Others, like me, would love to just send an anonymous thank you card. I don’t want them to know who I am, and I don’t want to know who they are. Because it’s not just lungs: it’s a person. It’s got a name, an identity. I’ve even heard stories where the family has actually said: you owe me, because my son gave you those lungs. Yes, but the guilt is uncomfortable. In other cases, the family doesn’t want you anywhere near them. The donation may not have been the family’s wish, but unfortunately there are not enough donors.
These emotional issues prove far more powerful than organ recipients anticipate. Dorothy, a tough, assertive businesswoman, felt that issues of donorship would not bother her. But in the end, even she recognized that her attitudes may waver over time. “Getting someone else’s lungs inside of me doesn’t bother me at all,” she said. “It might bother me later on, but not today.” Indeed, she ponders whether she will name her future lungs, and has already picked out names for them.
BREAST CANCER TREATMENTS
Breast cancer poses a different set of therapeutic dilemmas. Genetic testing for breast cancer can affect possible treatment in several ways: from type and frequency of monitoring to chemotherapy, radiation therapy, and prophylactic surgery.
Genetic testing for breast cancer can motivate more vigorous follow-up by both clinicians and patients. “Finding out that I had the gene,” said Rhonda, the nurse with breast cancer and a strong family history, “my doctor recommended I be followed much more closely for ovarian cancer as well.”
For those who have not already had cancer, a mutation-positive genetic test can prompt more aggressive follow-up. In fact, untested or mutation-negative individuals may feel less justified using medical resources. Thus, some women undergo testing in order to motivate themselves to monitor more. For Laura, the graphic designer, and her providers, a mutation-positive result clarifies and justifies decisions, and “makes things really black and white.”
On the other hand, subsequent treatment decisions can pose more complicated and stressful choices. Chemotherapy can treat breast cancer but have painful side effects, and is not always successful. Many women thus consider or opt for prophylactic surgery instead. Carol was glad to be tested after developing cancer, but at a certain point she declined additional chemo and instead chose prophylactic mastectomy—despite her boyfriend’s objection. She wanted to make her own decision, and feels in retrospect that the surgery saved her life.
They wanted me to have more chemo, but I refused. Chemo obviously didn’t do anything. So why do it again? I decided to nip everything in the bud, and have everything removed—to take matters into my own hands, and have prophylactic surgery. I had a double mastectomy, with reconstruction, and had the other ovary removed. Lo and behold, they found some microscopic foci on my removed ovary, and I wound up having Paget’s disease in one of my nipples. So it saved my life. I’m thrilled I had the genetic testing, because otherwise, things would have gotten worse. Maybe they would never have caught the ovarian cancer.
Physicians’ recommendations can also conflict, adding to patient confusion. Patients feel that at times, doctors are too quick to perform invasive medical interventions, and hence, in the end, that patients need to make key decisions on their own. “I don’t do everything they tell me,” Carol added. “But I try to do what I think is realistic. One doctor was very adamant that I do the chemo. The other doctors thought the cancer was tiny.” She has not always followed her doctors’ advice, but feels she carefully evaluates and weighs what they say.
Women who have or are at risk for BRCA1/2 mutations or breast cancer also face dilemmas of whether to undergo prophylactic surgeries, and if so, when. The uncertain predictiveness of BRCA1/2 testing complicates these decisions. Women confront these choices in the contexts of complex interpersonal interactions.
Since the effectiveness of ovarian screening is relatively poor, professional groups recommend prophylactic ovarian surgery for BRCA mutation carriers by age 35 or by the completion of childbearing,2 and bilateral prophylactic mastectomies for those who are willing. Prophylactic oophorectomies and mastectomies reduce cancer more than do chemo or surveillance,3 and for mutation carriers are the most cost-effective strategies.4
Yet many women who might benefit from prophylactic surgery do not undergo it. Rates vary depending on country of origin and other factors. For instance, asymptomatic women with mutations opt for prophylactic surgeries much less in the United States than in the Netherlands.5,6,7 The reasons for these differences are not clear.8,9,10 In general, young women with children opt more for mastectomies, while older women opt more for oophorectomies.11 Psychological factors such as perceived risks and benefits, trust in tests,12 and being a “monitor” rather than a “blunter” of information13 can also affect these decisions.14,15,16 Women may choose oophorectomies based on perceptions of risk, cancer in family members, family obligations, concerns about fertility and menopause, and fears of surgical complications.17 In general, women must balance potential benefits of anxiety reduction against potential complications of surgery.18
Clinical guidelines for mastectomies and oophorectomies differ, and leave much open room for questions. For oophorectomies, women have to decide exactly how long before turning 35 they can wait before undergoing surgery. Women considering prophylactic mastectomy must balance risks of disease against the risks of surgery for each type of operation (i.e., lumpectomy or mastectomy). But how women actually balance these various issues and make these disturbing tradeoffs about surgery, and when, remain unclear. Though potential factors have been suggested, the decision-making processes and the ways women view and experience these decisions remain murky.
Though the issues in contemplating each of these procedures vary in certain regards, common themes arise. Women face similar dilemmas, having to weigh conflicting psychological desires and communicate these tensions to providers and others. Differences emerge as well, but overall, the similarities appear to far outweigh these.
Women confront a series of agonizing decisions of whether to undergo each of these procedures, and if so which, when, and how. They seek input from providers, family members, friends, and breast cancer communities. Many women face these decisions either simultaneously or sequentially; and experiences confronting one procedure often shape subsequent decisions concerning other operations.
Series of Stressful Questions Faced
Women face dilemmas of whether they would develop cancer if they have the BRCA1/2 mutation, and whether to undergo a lumpectomy or mastectomy, prophylactic mastectomies, breast reconstruction, or oophorectomies. The fact that operations had uncertain prognoses and unpredictable side effects complicates these conundra.
As we saw earlier, some women undergo genetic testing to see if they should indeed undergo prophylactic surgery. Others, who decided not to undergo testing, nonetheless consider surgery. Some women avoid testing because they will then have to face these quandaries. Despite her breast cancer and family history, Karen, the lawyer, viewed surgery in ways that affected her testing decision:
So far, I have opted not to get tested. I asked my oncologist, “What difference would it make in my treatment?” She said, “At some point I would say: take out your ovaries, if there were a genetic link.” So, do I want to have my ovaries taken out . . .? Or, do it prophylactically even without the testing?
She wrestles with this quandary, and has thus far not tested.
Women who decide to undergo surgery then face uncertainties of when to do so. They have to weigh desires to delay (in order to become comfortable psychologically with the possibility) against desires to eliminate cancer worries, and stop possible disease progression as soon as possible. Many women struggle with how long they can wait after a mastectomy before having oophorectomies. Rachel, who had breast cancer and a mutation, but not much information about her family history due to the Holocaust, concluded,
I’m pretty much certain that I’ll have my ovaries removed . . . My oncologist said I don’t have to have it done now. They’re suggesting: before I’m 50. I’m 40. Could I wait 10 years? As I get older, the incidence of ovarian cancer increases . . . [After] what I’ve been through this year, I feel that if I were to do it now, I could at least put this chapter in my life behind me in some way, and not worry. I’m concerned about getting a cancer they can’t detect. And I don’t want to be under the magnifying glass the rest of my life. I have these mixed feelings about it: real confusion in my mind about what to do.
Though she had breast cancer and has the mutation, the fact that she does not know of a family history of the disease makes surgery less pressing to her.
Exquisite sensitivities concerning threats to the body and symbolic meanings of breasts and ovaries add to these complexities. Women frequently want at least to hear about possible alternatives, and to have these options addressed as sensitively as possible. But they often feel disappointed. Rachel added,
I left the first breast surgeon because he said, “O.K., here’s what we do: we’re going to remove your breast, and you’re going to have chemotherapy and potentially radiation.” My husband and I sat there saying, “We don’t need it sugar-coated, but what about alternatives?” He said, “You could pursue these, but . . .” In the end, I ended up doing what that doctor said, but with a breast surgeon who worked with my integrated medicine oncologist—they had worked together before, and respected each other.
Rachel values holistic approaches and CAM, which this first doctor dismissed. As she explained,
An integrated medicine oncologist is very different than a traditional and conventional doctor. Part of my protocol, besides doing the conventional stuff, has been to integrate meditation, acupuncture, massage therapy for stress reduction, lymphatic massage, and a variety of supplements, not just vitamins, but antioxidants, Vitamin C, algae, and very large doses of dehydrated vegetables and fruits.
As we saw earlier, many women valued such alternative adjunct therapy, even if doctors denigrated it. As Rachel suggests, a physician’s presentation of or openness to such alternatives may enhance patient satisfaction and trust.
The fact that these decisions arise in the context of ongoing risk and illness adds stress, since each decision is part of a much longer sequential series of choices. Hence, many seek to postpone decisions, though doing so may reflect denial. Mildred, who worked in finance and also had breast cancer, the mutation, and strong family history, is five years older than Rachel and feels closer to menopause. She wishes to wait until then.
I don’t want to think about it. I picked a number: when I hit 45. Next year. I guess I haven’t decided. I mean: I’ve decided, but I keep on putting it off. For doctors, it’s easy. They say: “take it out right away.” That’s fine, but for me, it’s: “Can’t I just wait? I’ve gone through enough.” I understand it’s increased my chances of getting ovarian by 40% over [my] lifetime.
She distinguishes the cavalier stances of physicians about these procedures from her own hesitation. Her past operation frames her outlook toward a future one. She understands the medical risks, but given these troubling tradeoffs, tries to delay the procedure, creating excuses. “I wanted to wait a year after surgery,” she said. “Then, ‘I’ll wait until I go into menopause.’ I’m going to constantly give an excuse.”
Women face ambiguities, too, about the side effects that may result from surgery—including whether it will harm their physical attractiveness, relationships and sex, and views of their bodies and selves. To answer these questions definitively is hard. Arlene, the asymptomatic nurse who studied religion, has a sister and aunt with breast cancer. She debates whether to undergo genetic testing, based on the possible implications for prophylactic surgery.
I’ve been looking at other women’s breasts, thinking, “Is it really that big a deal?”, wondering what some of the sensations [would] be like. Arousal in your nipples is not going to be there. But how much does that interfere with having a loving and caring intimate relationship?
She is uncertain about both sexual experiences, and the potential effects of these on romance.
Communication about Stresses
Given these quandaries, women generally seek and receive input from several sets of others, and various factors in turn shape how assistance is both offered and received.
Clinicians offer input, but it often proves complicated. Many women want clear, unambiguous medical opinions. But the subjectiveness of decisions about prophylactic surgery leads many physicians and others to feel uncomfortable giving such unequivocal recommendations. Beatrice, the math teacher who had breast cancer along with her sister, but no mutation, was unsure whether to have a lumpectomy or a mastectomy. She understood the risks logically, but still sought advice: “I called my internist, because she’s a good friend, to help me make that decision. But she just felt she really couldn’t.” Physicians may feel torn—wanting to help, but recognizing that simple definitive opinions may not be best.
Patients may acknowledge the elusiveness of such firm input, but nonetheless feel frustrated. Beatrice continued:
Sometimes we want to hear that there is one answer, but there is none. Sometimes I wished somebody said, “This is how you do it . . . this is the pill. That’s it. End of story.” Whereas with this, you have to make a judgment call. A lot of information comes at you fast and furious. Sometimes it’s a lot easier just being a little kid: Your mother says this is what you’re having for dinner.
She highlights the difficulties of having to confront these quandaries and assess relatively large amounts of information without sufficient guidance, while at the same time desiring certainty. Surgeons may have less difficulty treating women newly diagnosed with cancer (where direct approaches may be well-suited) than women contemplating prophylactic operations (where nondirective discussions may be more appropriate). Yet Beatrice suggests that ambiguities arise in decisions involving both therapeutic and prophylactic considerations.
As we saw, doctors may vary not only in how directly they make recommendations but in whether they present other treatment options. Physicians range widely in the degrees to which they provide input versus leave decisions up to the patient. Due to the ambiguities and subjectivities involved, physicians may not say definitively what to do; instead, they may leave much of the decision making up to the woman herself. Yet selecting between these surgical options can be overwhelming. Carmen, the Latina former clerical aide who had breast and thyroid cancer and a BRCA mutation, but no family history, said, “It was my choice whether to have the breast removed or leave it. I decided to have it removed. It was very hard—like the world was coming down on me.”
At the other extreme, given these uncertainties and sensitivities, some physicians may provide input too readily or forcefully. Particularly for oophorectomies, given their reproductive and psychological implications, doctors can appear somewhat callous regarding the stresses involved, not seeing these issues from patients’ points of view. Doctors vary not only in the content and directiveness of their input, but their tone and sensitivity. Bonnie, whose mother and sister had breast cancer, said,
When my sister was getting the mass removed from her ovary, the doctor said, “We’ll go in, scoop it out. We’ll be out in a minute.” Scoop it out? It drove me insane. He was “one of the best,” but I feel so bad for any woman who goes to him. I’ve seen other doctors like that, too—male and female, it didn’t matter. For doctors, it’s just another day at the office.
Doctors may appear callous in both the information they present and the context in which they present it. Susie, having worked for an HIV organization, was acutely aware of these issues, and said about an ultrasound that found ovarian cysts,
This doctor tried to discuss the results of the sonogram over the phone. I said, “Hi, Doctor,” and suddenly I’m being told about this stuff. I didn’t want to hear it over the phone. I don’t think she was a good doctor. I don’t see her anymore. My experience was bad.
The information this doctor provided may have been scientifically accurate, but Susie did not like the manner in which he conveyed it—without emotionally sensitive framing or any introduction to contextualize the information to try to lessen the trauma. From a relatively young female physician, such perceived harshness can be unexpected and surprising. Such patient reactions, though subjective, can nonetheless shape patient trust and treatment adherence—and thereby therapeutic outcomes. Physician gender does not seem to matter much.
Given these vagaries, doctors’ time frames also differ in both raising the topic of surgeries and recommending these procedures. Physicians range in the degrees to which they push patients in these choices. Some patients feel urgency from doctors to undergo surgery, and perceive insensitivities in timing.
Clinicians may face conflicts in deciding when initially to raise options of surgery, to allow patients to prepare psychologically. The possibility of prophylactic surgery emerges not only after a mutation has been found, but before, when considering testing as a hypothetical possibility. However, women often saw providers as presenting options either too early (e.g., before genetic testing) or too late. Providers may want to prepare patients for the possibility of surgery by broaching the topic before genetic test or biopsy results are available. Yet women may then feel that these conversations are premature. Susie continued:
Before I got my test results, the doctor jumped ahead to tell me: if you’re positive, you should just take out your ovaries. I wasn’t sure. I said I didn’t think I wanted kids. She said, “Then it’s easy. You’ll just take the ovaries out.” She seemed very confident. I thought, “What?! You don’t even know what I have! Why are you telling me that?”
She ended up not having the mutation. Yet patients may feel uncomfortable expressing these objections to providers, thus impeding feedback to doctors.
Mildred, with breast cancer, a mutation, and a family history, also feels conflicted about prophylactic oophorectomies, and is thus waiting until menopause to undergo them. She continued, “My gynecologist and oncologist are O.K. with me waiting. My breast doctor is the only one pressuring me.” Mildred highlights tensions between autonomy and paternalism—doctors encouraging what they think is best as opposed to what the patient may want.
Patients sense that institutional factors may also hamper provider communication. Some women feel, for example, that providers may defer from being more directive in these decisions because of legal liabilities or insurance concerns. “If they say, ‘This is what you do,’” said Beatrice, the math teacher, “and things backfire, somebody’s going to turn around and sue. No doctor wants to take that legal risk.” Hence, patients at times feel that doctors may not discuss certain options unless patients specifically ask about these. Ori, the Israeli woman with breast cancer but no mutation or family history, said,
The doctor recommended a mastectomy only on the sick breast. I asked, “How about this other one? Do I run the risk of developing something there?” The doctor said, “Yes, it’s a good idea. I’m glad you asked: I’m not allowed to raise it by myself.” She couldn’t recommend it without my asking for it.
Lacking the BRCA1/2 mutations or a family history, the need for such surgery was not clear, but Ori, at age 55, did not want to take any chances, in part due to the possibility of other genetic factors. At her age, she was also less bothered by losing both breasts than were many younger women. She suspected that in her case, insurance or other constraints limited the doctor’s options, though the precise nature of these constraints was not wholly clear. Nonetheless, Ori highlights how patients feel that the larger health care system can at times restrain physicians.
As a result of some doctors’ low levels of input, finding the “right” physician can be hard. Women may shop around for a provider, though not all patients have flexible insurance plans or out-of-pocket funds. Difficult tradeoffs arise. Even with a lumpectomy, questions emerge as to how extensive an operation to have. As Karen, the lawyer with breast cancer and a family history but no testing, said,
I went to four different surgeons. The first one seemed too busy. Another was too paternalistic. A third one wanted to take out a bunch of nodes, rather than do a sentinel node biopsy, so I eliminated her, though I liked her a lot.
Women have to consider what a doctor recommends, as well as how, and when. Karen balanced one physician’s bedside manner against treatment recommendation, and weighed the former over the latter. Physicians can vary considerably in styles, timing, and recommendations. Women, in turn, range widely in weighing these factors, making it difficult for providers to know how best to approach these issues with any one patient.
Communication with Family and Friends
Given these stresses and often disappointing provider interactions, women frequently turn to family members and friends. Yet these additional interactions also differ considerably. Family members and friends can be either too aggressive and opinionated, or, on the other hand, too removed. Isabelle, the social worker with breast cancer and a mutation but no family history, feels pressured by her employer to undergo a prophylactic mastectomy:
My boss always pushes me to get the surgery. She has multiple sclerosis. Living with her situation, unable to do anything about it, she thinks, “Are you crazy? You can do something! Do the surgery. And don’t have the reconstruction—do it the simple way.” But I just don’t think I can deal with a double mastectomy, seeing what it looks like.
These highly personal issues can lead women to clash with their friends and family. Isabelle has thus far undergone an oophorectomy, but not a mastectomy.
When a woman’s main social supports disagree with her or one other, she then has to balance these conflicting views. As Vera, the Asian executive, said about a possible oophorectomy, “My siblings are leaning towards ‘no’: why have surgery when you might not need it? My friends are leaning towards ‘yes: cancer is bad.” This opposition arises in part because no one in her family has had breast cancer. Still, she and others must then negotiate between such clashing arguments, and may remain undecided.
Ultimately, families and close friends generally uphold, rather than oppose, the patient’s preference. Spouses, in particular, usually see their own opinions as secondary to the patient’s. Family and friends may voice strong opposition, but in the end usually respect—perhaps more than do physicians—a “feminist” position that ultimately, a women’s decisions about her body are her own. Carol, whose boyfriend opposed her prophylactic surgery, said, “In the end, despite the fact that he was so against it, and people said, ‘Oh my God, it’s so drastic,’ it was my decision. It’s my life.” The risk worried her far more than him. She had both breasts and both ovaries removed.
Communication with the Breast Cancer Community
Given these stresses and frequently unsatisfying inputs from clinicians and others, many women turn to patient communities. These groups—both formal and informal—can fill gaps left by providers and families. Yet complications arise here as well. Within breast cancer communities, women vary in terms of what information they share and how. Debates about these surgeries fill much communication, and information from websites and patient advocacy organizations (either online or through support groups or meetings). Isabelle, for example, the social worker with cancer and the mutation, had undergone an oophorectomy but has had difficulty facing the prospect of additional surgery (a mastectomy). She finds it helpful hearing about others’ decisions, though she sees women as varying widely in their tolerance and acceptance of risk. The degrees to which some patients take strong positions surprise her. She feels unable to do so herself.
Online, the biggest issues are: whether to be tested or not, and have surgery, once you know you have this gene. Some women are really pro-surgery . . . Others feel they don’t need to go to such extremes. Women who haven’t had cancer, but have mothers or sisters who have, go to extremes and have preventive surgeries. I give them a lot of credit; that’s very brave. I haven’t been able to come to terms with surgery.
In these communities members can clash, and potentially sway each other. When initially considering testing and its implications, Susie, with no symptoms but an extensive family history, spoke to other women. She contemplated the possibility of prophylactic surgery as a reason to undergo testing.
Other women have had double mastectomies—because their mothers died early—and feel it saved their lives. For them, it made sense. So I did hear some positive stories to counter this insane invasive surgery.
She then decided to pursue testing, and turned out to be mutation-negative.
The specific venue can affect these discussions. For example, the Internet offers certain advantages over direct face-to-face interactions, providing large amounts of information (including, importantly, photographs of surgical results), and permitting anonymity. Within these communities, members can share intimate experiences and even photos of breasts after surgery. Generally, group norms value such sharing, altruism, and communitarianism over protection of confidentiality. This communality forges and in turn further strengthens social connections. Women may not even see an alternative to such sharing. Carol, who dismissed her boyfriend’s opposition to prophylactic surgeries, said, “if someone asks me, I’d probably show her my breasts: how great they look . . . I show everybody who wants to look. I’m not shy. How can you be?” With breast cancer, a strong family history, and the mutation, she had undergone both sets of prophylactic surgeries. The breast cancer community had assisted her, and she wished to help other members.
This camaraderie provides key information that physicians, family, and other friends often do not. Patients frequently seek as much advice as possible, and hence value the vast amount of data and experience, both visual and verbal, available online. A strong sense of community exists on the Internet, encouraging and facilitating mutual assistance. Nevertheless, patients range in the degrees to which they are willing to forego confidentiality in exchange for additional social support.
Women also differ in the amounts and kinds of information they pursue. Some women are highly proactive, looking at outcomes even before receiving their own genetic test results in order to help decide what prophylactic or other surgeries to undergo. Patients may even shop online for surgeons before receiving their genetic test results. Even before testing, Sarah, the computer programmer who is asymptomatic but has an extensive family history, including her sister, said she
went to some of the big plastic surgery sites. You can go through lists of hundreds of surgeons, and look at their patients’ pictures before and after. I looked at the pictures of people who had had prophylactic work done versus mastectomies only after developing cancer. The prophylactic ones looked a hell of a lot better. I even looked at the different techniques.
She wanted to see other women’s results herself—highlighting the importance of visual, not only verbal, information in confronting these uncertainties and anxieties. She continued, “Someone might say, ‘Why not ask your doctors for recommendations?’ But I wanted to see what kind of work they do.”
As suggested earlier, women have to assess the content and validity of information they receive, which can be difficult. Within these disease communities patients have to judge each others’ views carefully given possible biases, personal preferences, and personalities. Patients vary in how much to accept versus how much to question information received—especially online from anonymous sources.
Genetic markers offer diagnostic—but not necessarily therapeutic—advances, and patients thus confront stresses concerning treatment. These challenges can vary due to the differing treatability of each condition. While HD has no effective treatment, Alpha does, though these therapies have posed obstacles.
Women with BRCA1/2 mutations face particularly difficult decisions regarding prophylactic surgeries. They confront questions of whether to undergo surgery, which operations to undergo (prophylactic mastectomy, reconstruction, prophylactic oophorectomy), when to do so, and how to decide (whether to accept or reject input from others). These issues even shape decisions of whether or not to undergo testing.
Choosing surgery or no surgery both pose ambiguous risks. Limitations of the health care system related to insurance or liability concerns may also constrain providers. While some women feel disappointed that a physician is not more directive, others reject doctors’ input as too callous and forceful.
Providers, friends, and family may feel frustrated, caught in a double bind, wanting to offer more definitive advice but feeling unable to do so. Physicians and family members often need to be more sensitive to these issues, and prepared to broach these topics related to sexual functioning, reproductive plans, and physical attractiveness, and to help patients with these decisions, acknowledging these subjective and taboo concerns as legitimate. These others may also need to be more aware that they may view the form and content of communication far differently than do these patients.
Prophylactic surgery raises particular anxieties because the risks of both having surgery and not having it are considerable, yet abstract and hypothetical, and involve stigmatized issues concerning sexual organs, sexuality, and physical attractiveness.
These issues highlight several additional complexities and paradoxes of genetic testing, which can yield incomplete information that these murky treatment options make even more difficult. To face a mutation without any symptoms is a unique scenario in medicine. The fact that thus far genetics has yielded diagnostic far more than therapeutic knowledge presents dilemmas that will no doubt arise as well with many other genetic markers identified in the future.