“Why did this happen to me?” These men and women have to decide not only whether to test and disclose, but how to understand these risks and results. These individuals struggle to make sense of this genetic information and its effects on their lives, and find meaning. People generally seek causes—especially for bad events. We tend to want to know why tragedy happens, and who or what to blame. Genetic disease is no exception, but the answers may not be clear. The stakes can be high: whether to fault oneself or others, and whether to avoid factors that may exacerbate disease.
Several researchers have suggested that people “personalize” risk by seeing it in very individual and subjective ways. But questions remain of exactly how people do so, and what patterns emerge across diseases. Given uncertainties about genetics, how do patients, family members, and providers all choose, construct, or view explanations?
Questions of “why me?” have been probed with regard to other disorders, particularly cancer, but have received far less attention concerning genetics. With other diseases, many patients may ask “why me?” and ponder spiritual issues,1 often becoming fatalistic, or wrestling with questions of fate. In facing their own illness, both doctors and patients frequently ponder spiritual issues, including the role of “higher powers” in causing and curing disease.1,2 Particularly for a disease with incompletely known etiologies, patients may seek “explanatory models”—ways of comprehending phenomena.3
But how patients confronting genetic risks view such issues remains unclear. Beliefs about free will versus determinism are deeply imbued in our culture; Greek, Hebraic, and Germanic mythology all speak of inborn character or external forces working in and through us. Scientists, too, seek causal theories to make sense of natural phenomena. Thomas Kuhn described how scientists historically shift their paradigms.4 For a period, two competing conceptual frameworks may coexist, with some scientists trying to uphold one system until eventually abandoning it. But what do patients do? Do they act similarly or differently, and how?
Scholars have suggested several theories concerning understandings of disease in general. For instance, individuals may follow one of three main sets of explanations—environmental, behavioral, or hidden causes—with each set associated with different consequences and aspects of control and cure.5 In viewing genetic versus other causes of disease, Bethan Henderson and Bryan Maguire6 suggested that patients follow one of three “lay models” of inheritance: constitutional (that one’s constitution is inherited, and may be “weak” or “strong”); genetic; and molecular (i.e., consisting of mere chemicals). Henrik Wulff described a spectrum of five categories of disease, based on the degrees to which they are genetic: from genetic in a strong sense, to genetic in a weak sense (i.e., as necessary, but not sufficient to cause a disease), both genetic and environmental (as in a genetic predisposition), partly genetic, and not genetic.7 Jon Weil8 writes about coexisting medical and personal “idiosyncratic” explanations.
Some investigators have suggested, too, that subjective feelings about a disease may affect patients more than objective data. When confronting disease, fear and avoidance can shape responses. When learning they have a threatening uncontrollable mutation, patients may become fatalistic.9 Possible control over their disease creates tension between hope (being able to alter their illness) and self-blame (that they had failed to control it).
Yet, research on how views of illness and health behaviors affect each other have been inconsistent. Some studies, but not others, have suggested that genetic testing may increase fatalism. Other investigators suggest that individuals may fit risk information into their established views of the cause of a disease.10
Scientists still debate the etiologies of many diagnoses. Alzheimer’s disease, for instance, has been explained in varying ways—from clinical to neuropathological to genetic. Neuropathologists view it more neuropathologically, and geneticists view it more genetically.11 Ever since its initial description in the nineteenth century, controversy has existed as to whether this diagnosis is even a distinct disease. Alzheimer’s may be more than a single disease entity, and the cause may be “constructed” rather than “discovered.” In general, scientists may be shifting from monocausality to recognition of multifactorial causes for diseases.12 But many questions persist of how patients, their family members, and others handle these ambiguities, and view these issues, and why—how they choose one or more explanations.
The past literature has also tended to focus on the outcome of genetic counseling, which not all at-risk individuals in fact pursue. Some may avoid testing altogether, due to their prior beliefs about these disease causes.
Though individuals may personalize genetic information in idiosyncratic ways, patterns and themes may nevertheless emerge, though in as yet unknown ways. It is unclear how individuals make sense of uncertain or inconclusive scientific data—how exactly people decide between competing theories, what they see as the pros and cons of conflicting explanations, what cognitive and emotional processes and factors are involved, and how they experience these frequently bewildering choices. To completely separate these multidimensional and overlapping queries is not possible. Hence, some overlap occurs below.
VIEWS OF FATE
These individuals often ask “why me?” and answer both physically and metaphysically. They encounter multiple conceptions of causes, and dilemmas of which to adopt. To see what part, if any, they might control, and to reduce stress and anxiety, they demonstrate deep needs to understand the roots of their predicaments. They approach these quandaries in various ways, balancing potentially competing views, and generally encountering difficulties. Though some people view these causal factors in binary terms—for example, as nature versus nurture, or genes versus the environment—others grapple with more complex interactions. Even those who have seemingly relatively straightforward situations—for example, both a mutation and the disease—confront ultimate questions of “why me.”
The fact that genetic tests potentially provide information about one’s future inevitably leads to searches to grasp what exactly that predictiveness means, and how to interpret and incorporate it into one’s life and hope. Inherent uncertainties also lead to tensions and confusion, and questions of fate evoke complex notions of cause, blame, and luck.
On the one hand, genetics offers information about the future, even if only in the form of probabilities, and this perceived predictiveness invokes feelings that the knowledge is somehow being predetermined or preordained. For many individuals, this sense of predetermination suggests that an external agency must therefore have power and influence over them. Yet this idea challenges beliefs about autonomy and free will. Thus, individuals have to wrestle with the extent to which they are by-products of their genes and external forces versus autonomous agents operating solely based on their own volition.
In confronting these quandaries, genetic test results appear to function as a kind of Rorschach test that individuals interpret in a wide variety of ways based on broader psychological, cultural, and personal issues, needs, and beliefs. People struggle to fit the disease and its genetics into the stories of their lives—their ongoing narratives that give their lives a sense of coherence.
Yet while they try to integrate presumed genetic factors with their prior views about their lives, these efforts at synthesis prove difficult. These patients grasp for meaning and coherence, rather than chaos and chance. Genetic foreknowledge of their potential death threatens their prior psychological refuge. Thus, these men and women struggle, seeking understanding and meaning, grappling with a range of beliefs related to cause—from physics to luck, blame, and metaphysics—and ways of coping with these possibilities.
THE MEANINGS OF FATE
Many believe that the disease constitutes their fate, yet the meanings and implications of that word vary widely. The term has a wide spectrum of philosophical, spiritual, and cultural connotations. Views prove fluid, and not necessarily consistent or logically coherent.
Many see a mutation as not only permanent, but inevitable. Yet in recognizing the future implications, individuals often focus on particular aspects of this fatedness. For some, fate means ongoing symptoms—disease processes that, even if ameliorated by treatment, will ineluctably march on. “I’ve had other serious things happen to me in the past, but I got over them,” Betty, the designer who carries an oxygen machine, observed. “But Alpha doesn’t go away. There’s a very real process of mourning my previous image of myself.”
Individuals feel fated concerning a variety of other possible future challenges, such as ongoing insurance worries and/or needs for treatment. Many of these individuals then have to live with terrible awareness of the probable cause of their ultimate demise. Barbara, the part-time professor who feels guilty about having exposed her children to cigarette smoke, said about Alpha, “I live with knowledge of my own death. I’ve lost 40% of lung capacity. I saw a person at 40% two years ago, now at 15%. When you’re below 20%, you have only one year to live.”
A mutation can thus suggest not only the etiology, or cause of disease, but the timing of one’s demise. Individuals then have to grapple with this predicament. “I’m not going to live to a ripe old age,” said Charles, the accountant who still uses tobacco and hangs out in smoky bars, which could exacerbate his Alpha symptoms. “When you’re pretty sure you’re going to dead by 35, you have a different perspective.” His genetic marker makes him fatalistic, which can in turn impair his health, and contributes to his continued exposure to disease exacerbants.
Though intellectually humans are all aware that they will eventually die, few confront this inevitability with the certainty of those who know they have or may have a potentially lethal mutation. This concretization of the threat and lack of time can itself foster stress. “Everyone says, ‘I could die crossing the street,’” Charles sighed, “but for me, this is for real!” Definitive knowledge that one has a mutation or even a family history can suddenly make the risk of these diseases far less abstract.
This sense of fatalism can extend to not only oneself, but one’s offspring. “The hardest thing about being at risk is knowing that your life may be doomed,” said Antonia, the neuroscientist who eventually found she lacked the HD mutation. “That you may die prematurely at 50—and could pass this on to your kids.”
Individuals must then decide how to respond: whether to accept, worry about, or deny this fate. The extent to which they adopt such options varies widely. Charles sought to avoid these painful ruminations: “I’m not spending a lot of time worrying about it.”
Before undergoing testing, the assumptions many people make as to whether they possess a mutation or not can in fact verge on premonitions and reflect notions of fate. In looking back, many say that they not only felt destined, but foresaw their future. Either implicitly or explicitly, they invoke metaphysical notions of predetermination—that they sensed this future before it befell them. They desire coherence in the narratives and meanings of their lives, and often cling to these beliefs in death foretold. Such premonitions may arise because of perceived evidence—early possible signs or symptoms—but many believe that such premonitions are far less physical than metaphysical in origin. Arlene, the nurse who studied religion, said about her risk of breast cancer,
A lot of women told me they’ve known: they’ve had dreams, an intuitive knowing, that made them hyper-vigilant. If you’re stressed and worrying about breast cancer, that is going to cause it: through ESP, the Holy Spirit, loose consciousness, whatever — that realm beyond clinical science. I’ve always been quite intuitive — I’ve kept a dream journal for 20 years. It made me sure I got a mammogram every year.
Others support the notion of such premonitions, though they did not have any themselves. Many wish they did, revealing the strength of underlying desires for certainty and prophecy in the face of deep ambiguity. Susie, who worked in HIV and had an ovarian cyst and a family history of breast cancer but no symptoms, and eventually tested mutation-negative, said, “My stepmom said, ‘Do you have it or not? People can usually tell.’ My cousin was sure she had it. I don’t know. I wish I did.” Yet such foreknowledge can cause difficulties—anxiety, and at times over-vigilance. Such beliefs also prompt dilemmas of how frequently to monitor oneself, and whether to undergo a genetic test.
VIEWS OF CAUSES: FROM PHYSICAL TO METAPHYSICAL
These individuals seek to understand not only what this fate consists of, but why it befalls them. Genetic assays provide a sense that the future is partially or fully predictable, and hence somehow preset. These notions in turn propel questions as to why and how that is the case. Answers vary as to whether this fate is due to physical or metaphysical phenomena.
In seeking such explanations, people draw on a wide spectrum of conceptual models: from purely physical to purely metaphysical causes to combinations of these. Yet while some prior scholars have offered schematic theories about such models, the individuals here revealed a myriad of complexities and nuances.
Persistent uncertainties, heightened fears, and realities lead to struggles with sweeping metaphysical questions—for example, whether destinies are predetermined, and if so, to what degree. Spiritual views can also reflect long-standing beliefs. As Kym, the South Asian physician, said, “I don’t really know what I believe—somewhere between an actual God and an energy. It changes.”
Some believe not in a specific preordained, individualized design, but in a potential overall order—rather than simply pure randomness and chaos. Reflecting on his HD risk, Karl, abused by his father, said, “There’s not a plan, but certainly an order to things that’s extremely complex and hard to figure out. I don’t have a sense that there’s a predestination.” His experiences shape his sense of confusion about these realms.
Many go further, seeing spirituality as playing a role in their genetic risk. Spirituality can account for—or be affirmed by—one’s disease. Illness may be seen not as punishment, but as proof of God’s existence. Carmen, for instance, the Latina former clerical aide, felt that her breast and thyroid cancer and BRCA mutation were “proof that He gives you your life—that you have to go through this and deal with it.” This Job-like sense helped her cope.
Others look solely or primarily to physical factors as producing their disease. A few remain strict materialists, and simply reject all metaphysical notions of being “doomed” or “spared.” They seek hope and acknowledge the mysterious, unknown processes involved, but ultimately see these as biological, not divine. Yet those who prefer biological understandings still confront and weigh a variety of possible physical explanations, influenced by a range of factors.
A few feel that larger metaphysical questions, while tempting, are too distant or unanswerable, and hence not worth pursuing. Karl wrestles with how much to blame HD for his father’s abusive behavior.
Everybody has the “Why me’s?” But the world is just the way it is. Some people are born left-handed. There are biological reasons for it, but to try to figure out the cosmic roll of the dice, and why you ended up with one set of situations, and somebody else another, is not worth it.
In contrast, many of those with symptoms or mutations who have had less traumatic upbringings hunted for straightforward physical etiologies, even if these are still uncertain. They often select between, and interpret, multiple possible forces.
Yet physical factors still pose several unresolved questions: concerning how genes and the environment each contribute to a disease, and why some genes, but not others, express themselves. In response to these quandaries, individuals tended to focus on either genetic or environmental factors, or combinations of these two. Yet integrating these competing sets of explanations is not easy, as individuals grapple with desires for control, and prior views of themselves.
Given the many unknowns involved, mechanical explanations are often pursued, but vary in detail. At one extreme, individuals answer broad questions of “why me?” in purely genetic terms. Jennifer, the schoolteacher who tested after her son did, was very matter-of-fact about the cause of her Alpha: “People say, ‘Why me? Why did I get this?’ Emphysema was in my grandmother’s family: that’s how I got it.”
The type of disease influences these degrees of determinism. Overall, those at risk of HD appeared more likely to see their disease as the result of genetics (that their fate arose simply from a genetic mutation) while those at risk of breast cancer, where mutations were less penetrant and predictive, incorporated other factors more. But within these broad generalizations, key variations occurred. For all of these diseases, both environmental and metaphysical factors challenge wholly genetic etiologies.
A few rare individuals at risk for HD adopt purely genetic explanations, and actively reject alternative hypotheses. They accept the odds as randomness, without divine predestination. Antonia, in part as a neuroscientist, maintained such a matter-of-fact view: “You’ve either got a gene or not. So you have a genetic fate, one way or another.” Yet the fact that she lacks the HD mutation made this view easier for her to adopt.
AGAINST GENETIC DETERMINISM
The notion that crucial aspects of one’s being result simply from a dice roll—a mutation that one cannot remove—is difficult to accept. Most of these men and women thus resist genetic determinism, and adopt causal views other than the purely genetic. Even with HD, for which a “definitive” mutation has been identified, modifiers and indeterminate results leave room for doubt. These interviewees feel that other factors could affect when and how severely they become ill.
People resist genetic determinism in part because of its frightening implications—further onslaught of disease in oneself and others. Wilma, with bipolar disorder, refused testing after breast cancer, in part because “if my cancer was genetic, it would put me at higher risk for getting it in the other breast.” The prospect terrifies her.
Genetic determinism also threatens experiences of free will, desires for autonomy, and beliefs that environmental and behavior factors can play roles as well. These men and women resist the notion that they don’t wholly control their lives—or key aspects of it. They rail against threats to their sense of their own volition, wanting to feel that they are free, and experiencing themselves as such. Even with HD, knowledge of the mechanistics of genes does not completely answer questions of why one has received a mutation, and when and how it will express itself. In the absence of more scientific detail, myths and beliefs fill the gap.
Those at risk for HD also perceive gray areas and indeterminacies. Though HD has 100% penetrance, individuals confronting this disease often look to other disorders or behavioral traits to see how choice can in some ways modify genetics. A predisposition does not guarantee a disease, raising questions about definitions of this term. As Karl, unsure how much to attribute his father’s abusive behavior to disease, said,
In two different people, the same genes don’t necessarily get expressed the same way. Even if you have a genetic predisposition, it doesn’t mean it’s absolute . . . Lots of things could happen along the way. There might be many other factors and interactions. Choice enters into it. The whole thing is muddled. You don’t really know.
Yet views vary widely about how genetics in fact combine with other factors. Many feel there is “a mix of nature and nurture,” but to distinguish between these is hard.
Individuals trying to untangle the relative contributions of different sets of factors frequently draw on analogies from behavioral genetics. But from the morass of observations within this nascent field, men and women construct varying understandings. On the one hand, some leaned somewhat, though not entirely, toward genetics. They cited behavioral and psychological traits as possibly genetic, reflecting in part certain popular beliefs. As Karl added,
When you see things—like being obstinate, very free spirited, very self-directed, willful—in your parents, and then your children, it gives you pause. Maybe there’s a little bit more of the genetics thing than we give it.
To grasp these complexities and variability, many people seek examples and metaphors. These men and women frequently see psychological and behavioral traits as passed down partially, but incompletely, and not wholly predictably. The specifics prove baffling. Antonia, a neuroscientist, feels that aspects of her personality come from her paternal grandmother, but that genes from each parent could somehow intermix, in not fully understood ways.
Somewhere, the genes got muddled up. I resemble my dad’s mom most. She was quite a dominant, forceful woman. My dad’s sister is also quite like me. My parents and brother are not.
Individuals often cite additional, unknown biological variables as also molding gene expression. So-called normal genetic modifiers (genes that are not abnormal per se, but increase the likelihood of a mutation, if present, expressing itself) could be involved. But awareness of such factors appeared to result mostly from advanced scientific education. Shilpa, a Hindu medical student with a family history of breast cancer, though asymptomatic and untested herself, drew on her scientific training to reflect on this possibility:
You could have the gene and, because of your mRNA, not get the disease. Scientists still don’t know specifics behind that. Of 10 patients with BRCA1, only three get breast cancer. So there are obviously many variables we don’t know about—proteins and hormones that might affect the splicing.
Patients also face questions about whether environmental factors are involved, and if so which factors and to what degree, and what, if anything, might reduce these. These factors may play particularly important roles in common, so-called complex disorders, such as heart disease. Hence, individuals often invoke these ailments as paradigms in trying to make sense of their own disorders. People often pick scientific findings concerning other diseases to shape or support their existing understandings of their own predicament.
Many believe in the involvement of environment factors, but struggle to identify which specific ones, and how. In promoting or preventing a disease, a wide range of environmental phenomena are suspected—from specific to broad, and from affecting a particular individual to an entire population.
In considering the causes of their disease, many draw on their observations of illness in themselves and their family members. Some believe their disease is environmental, not genetic, because they have no family history or they tested negative. Yet as discussed earlier, family histories may not always be fully known, recognized, or accepted.
Often, folk wisdom prevails that environmental factors cause and could potentially cure or ameliorate disease—particularly cancer. Shilpa, the medical student, and others feel that geographic regions vary—for example, that urban areas are more hazardous than other locales due to “toxins or cell phone towers.”
The media may fuel such beliefs, which then become urban myths and the stuff of rumors. They may be incorrect, but nevertheless persist, reflecting suspicion of various environmental dangers.
To account for their own observations of who does versus who does not become ill, individuals also differentiate between specific regions as more or less deleterious. As Wilma—with breast cancer and bipolar disorder but no testing, in part because of her belief in environmental factors—reported:
They say there’s more breast cancer in Manhattan on the East Side than the West Side. That seems pretty far-fetched, but that’s what they say in the news. Long Island has a lot of breast cancer. They are studying the soil and various factors there. I think it’s a combination.
Subjective attitudes can mold such beliefs about the relative safety versus danger of particular regions. Desires to avoid self-blame can also shape these considerations. Joyce, with breast cancer but no mutation, working in a spa and living with her 8-year-old daughter, said,
For a period, I thought cancer was caused by living in Chicago. At times, I thought living in New York was so punishing that it was like a charm against cancer. You have enough misery in your life in New York without getting cancer. It’s a superstition.
The fact that she had the disease, but no mutation, made her more open to these ideas about non-genetic forces.
At times, individuals distinguish between genetic and familial disease, not necessarily seeing an illness that affects multiple family members as genetic. Rather, some feel that a diagnosis in the family is environmental, not genetic, if it results from environmental toxins to which family members have all been exposed. These beliefs can vary by disease. Families with breast cancer, in which no members have been tested or found to have a mutation, may have more latitude to hypothesize about nongenetic bases of their disease than do those in which a member has been found to have a definitive mutation.
Yet families with breast cancer histories who are mutation-negative may harbor mutations that scientists have not yet discovered. Still, as Roberta, the African American former nursing student with breast cancer but no testing, said,
It might run in families, but I don’t think it’s genetic. My cells go cockamamie for some chemically unknown reason. Everybody’s got their own metabolism, and exposure to all kinds of stuff. Some people say if you live under the high tension wires, you’re going to get it. Who’s to say?
Individuals search for evidence to support their presuppositions. As Roberta elaborated, her family history of different types of cancers leads her to think that her cancer is environmental. In seeking evidence, she and others thus assess epidemiological data. Yet rumor and hearsay can also shape these causal theories. Roberta continued:
I think it’s more environmental, because my family is originally from Louisiana, and during the 1970s and 80s oil boom, my mom went back down there and came back with breast cancer. I had cousins there, 16, 17, getting intestinal cancer, dying. Where’s this coming from? Down there, they dump all this stuff in the Mississippi, from Chicago all the way to New Orleans, that they can’t filter out. New Orleans has the worst water in the world! Toxic chemicals in the water do things to you. How do you get cancer at 15? Little kids with leukemia. My grandmother died an old woman, because of a bad heart. But now, everyone is showing up with cancer. You could say maybe it’s genetic. But you can’t really, until somebody proves it.
She felt that ultimately, disease in her family resulted from industrial pollution more than genetics. Her beliefs that she and her family were victims of powerful, harmful companies that she could not change may also have been partly shaped by her experiences as an African American woman, well aware of economic and social injustice in the United States.
Rising epidemiological rates of certain disease, too, can foster theories of environmental etiologies. Samantha, the 27-year-old actress with breast cancer but no family history or mutation, said, “Of people who get breast cancer, 99% don’t have family histories! Seventeen-year-olds get it! It’s become totally out of control!” Her own test result, showing no mutation, strengthens her view that the environment causes the increased prevalence of the disease among young women like herself.
Others argue that behavioral factors as well such as exercise, diet, and mental state can affect whether, when, and to what degree disease develops. Yet individuals ranged in precisely how and to what degree they thought these behaviors have influence, and whether these operate in conjunction with biological components. Psychological and environmental factors—including stress—could interact and potentially be controlled. Wilma felt that “everyday stress and how you handle it does something to your hormones, playing havoc with your system.” Her belief that such tension, more than genetics, caused her breast cancer resulted in part from her experiences with a psychiatric disorder, and contributed to her decision to forego genetic testing.
Combinations of Physical Factors
Overall, individuals tend to blame primarily either genetics or environment. To keep both in mind, with the ultimate etiology uncertain, is difficult. Usually, these individuals seek a “final” cause—a single culprit. In the end, even those who recognize possible gene-environment interactions tend to lean more toward one cause or the other. Most want to draw a line in the sand, blaming one side more, seeing their disease as mainly due to nature or nurture—but not both equally. Daniel Dennett and other philosophers have described “compatibalism” as somehow integrating views of free will versus determinism. Yet despite its potential benefits, this perspective is emotionally and psychologically difficult to sustain. This tendency may reflect how our brains work—how humans evolved, to look for a major cause, to organize a main response, and find something to control. Uncertainty and ambiguity appear harder to tolerate and address. In general, individuals at risk for HD tend to believe in genes as having more sway, while those confronting breast cancer see more mixed combinations of both genetic and environmental causes. Yet various factors could affect these beliefs. Shilpa, the Hindu medical student, said about her aunt with breast cancer,
She grew up in a small mountain village—with no commercialism or phone towers. So, I think there is a genetic predisposition, but environmental factors are a stronger predictor of what she has.
Shilpa opposes genetic determinism on psychological and existential grounds. She feels that people commonly misbelieve that if they have the mutation, they will have the disease, and she fears such fatalism. She added, “I didn’t want my family to feel: they have this gene, they’re doomed, they have the disease—there is no in-between.” Desires to reduce fatalism can thus shape views of disease etiology. She suggests, too, how degrees of genetic determinism can exist. Individuals can thus oppose strong or strict genetic determinism, but accept that genes are still somehow entailed.
Shilpa’s scientific training does not prompt purely mechanistic beliefs. Rather, her religious beliefs also colored her notions about disease causation. She opposes genetic determinism, which she observes in many patients, and feels that even if she had the gene, her fate would not be guaranteed.
Yet she then faces questions of how to understand the relative amounts of different causal contributions, and is unsure of how to join these competing views.
What are the odds of breast cancer for me, whose aunt has it? About fifty-fifty. Fifty percent there is a link. I do have control, through what I do. If my mom ends up having it, I’d think, “Oh my gosh, it’s 75%.”
In trying to parse the relative contributions of each set of factors, she offers percentages of contributions, quantifying the relative input from each set of factors, estimating these: “I feel like 50% is genetic, and 50% is your environment.”
She thinks that since environment and genes are both involved, they must each contribute 50%—unless other relatives are also affected. These statistics are not scientifically accurate, but reflect her desire and struggle to make sense of her risk.
SEARCHING FOR METAPHORS TO CONCEPTUALIZE COMBINATIONS
To grasp these complex and scientifically poorly understood interactions between multiple genetic and environmental factors, individuals search for analogies. Particularly for complex diseases, individuals wrestle to understand what having a mutation means conceptually, not simply statistically, in their bodies—how it interacts with the environment and behavior. Though scientists may be uncertain about mechanistic details, individuals nonetheless seek these.
In the end, many imagine that nongenetic factors (e.g., stress) stimulate the deleterious effects of mutations. But interviewees conceptualize such “triggers” in different ways. Some envision that more of something—added amounts—somehow tip the balance, or initiate a latent process.
Yet identifications of which specific environmental factors are involved, and how, is not easy. A few conclude that numerous phenomena interact to produce phenotypic results, and that attempts to parse these are futile. Karl, uncertain how much to blame HD for his father’s abusive behavior, said, “A million things interact with each other, and stuff happens. Trying to figure out which stuff is going to happen when is impossible.”
These concerns arise particularly for breast cancer. Some normalize the presence of this cancer—implicitly challenging its purely genetic basis, and seeing mutations as added, deciding factors. As Carol, who had breast cancer, a family history, and a mutation and who opted to have her breasts and ovaries removed, said,
We all have cancer in us, it’s just a matter of triggering it. Something starts it off. In my case, the gene is definitely an added extra. If everyone has X, I have X and Y to create Z: an extra component to exacerbate what’s already there.
Several people try to conceptualize gene-environment interactions by supposing that while genes may determine whether disease occurs, environmental factors can control when. Despite her mutation and family history, Carol traces her onset of symptoms to particularly stressful situations.
It was inevitable that I was going to get the cancer; it was just a matter of when. The trigger was there and got pulled. I know exactly when: I was going through a very stressful moment. A friendship was pulling me apart. I’ll never know what happened, but I never heard from her again. It really upset me. I had never lost a friend. She didn’t want anything to do with me. That’s when I was diagnosed with breast cancer. I was diagnosed with ovarian cancer right after 9/11, and had gone down to Ground Zero the day after. They’re talking about pollutants in the air down there. The cancer could have been festering, but the stress completely blew it wide open.
She draws on metaphors of weaponry: guns (“the trigger got pulled”) and bombs. She suggests, too, a main mechanism—stress made her more vulnerable to genetic factors and determined when the disease occurred.
These triggers can be genetic or environmental, direct or indirect, and proximal or distal. For example, Laura, the asymptomatic graphic designer with a family history of breast cancer and a mutation, wondered whether toxins mutated her parents’ or grandparents’ gametes. She resists assigning full blame to genes alone, seeking to hold environmental poisons culpable at least in part for her risk. “My condition may have nothing to do with the environment,” she said. “But it’s possible that something in the environment mutated my grandfather’s sperm.”
Even if they have the mutation, individuals ponder the mechanisms of not just genes, but cells. Many BRCA mutation-positive women see the development and spread of cancer as involving more than genes alone. They feel that they can not alter their genes directly, but can affect their cells. Rachel, with breast cancer and the mutation but little sense of her family’s medical history, since many of them died in the Holocaust, said, “Once I replenishwhat’s been taken from me, in terms of cells, I’ll be at a better point than before, mentally and emotionally. Perhaps the cancer will never resurface.”
Even HD triggers thoughts that environmental factors may have important temporal roles. Some see stress as precipitating or increasing symptoms, though they recognize the ambiguities involved in these scenarios. Evelyn, asymptomatic, who consulted a psychic when her husband opposed her testing, said, “I’ve read that symptoms came out after a stressful experience: After the death of so-and-so, we noticed the disease. Or maybe that’s when the family just happened to notice.”
Others think that a genetic basis of an illness does not make it inevitable, but simply advances the disease process in time. Other aspects of one’s body or behavior could precipitate the disease as well. Joyce, who worked in a spa and had blamed her cancer on the stress of urban living, said,
My understanding of how cancer works is: you may have a genetic predisposition or damage, so that compared to other people, you have a head start on having cancer. It doesn’t necessarily mean it is inevitable.
The fact that she had breast cancer but no mutation reinforces her belief in the role of nongenetic factors.
Still others seek more complex conceptual models, differentiating between active versus passive, or outer versus inner processes. Individuals attempt to grasp interactions between genotype and phenotype. Environmental factors, for instance, may increase the probability of genes going from an inward to an outward state. Kym, with no symptoms or testing but breast cancer in her family, draws partly on her medical training: “You can be genetically predisposed, but environmental factors can make you more likely to express it.”
Similarly, in trying to grasp these processes, many invoke metaphors of infection, conceptualizing these more easily than genetics. With infection, external agents are definitely somehow culpable. Hence, mutations can be seen as lying dormant—as if they are potentially invasive life-forms. Bonnie, who as a girl had seen her mother’s breast cancer and is asymptomatic and untested, struggled to understand her own risk: “If you’re genetically prone, maybe you have the genes, but don’t know if they’re dormant, or are going to react to something in your body, and you then get the disease.” She gropes for analogies from particular kinds of infectious agents—for example, prions that can have decades-long incubation periods and “stay dormant in the body for 30 years, and then be like Mad Cow disease.” The fact that she is at risk but has not had cancer bolsters this view, which in turn helps dissuade her from testing.
Infectious agents are also viewed as possible triggers themselves. Isabelle, the social worker with breast cancer and a mutation but no family history, feels that mildew in a moldy apartment may have stimulated her gene. Absence of the disease in relatives can thus both shape and confuse these calculations. Yet as we have seen, family histories may be inaccurate or incomplete. Isabelle struggled to understand why she got sick.
I come from a family where the gene hasn’t been expressed. Why did it happen with me? Would this have happened if I lived where the air is fresh and the water’s clean—if I moved out quicker from that apartment with mildew in the wall?
Yet though she at first said she had no family history, she later mentioned an aunt who had had breast cancer. Individuals may also selectively recall and consider such information.
Even with a mutation, some conceptualize the disease they confront as infectious, not genetic, highlighting questions about the definitions and meanings of primary versus secondary (or proximal versus distal) “causes.” Sarah, the computer programmer, thinks that ultimately, cancer results from viruses, not genetics—partly reflecting that fact that she has a family history of the disease, but no symptoms or mutation herself. She feels that BRCA1/2mutations are in fact merely “suppressors.”
I assume they’re all going to turn out to be viral carcinogens—insults to your immune system that set you up. I learned from the genetic counselor: BRCA1/2 don’t cause cancer. They’re actually tumor suppressors. If they are not functioning properly, or are mutated, you don’t get cancer suppression. But they’re not “the cause.” The cause is elsewhere. Every cancer for which they’ve found a legitimate cause turns out to be viral—H. pylori, and papillomavirus. Maybe people live with viruses without a problem unless they have a big enough insult to their immune system.
She looks for a single culprit but suggests that multiple factors may in fact be involved, suggesting how confusing casual definitions can be. Searches for such triggers arose with breast cancer far more forcefully than with the other two diseases examined here, since the mutation is the least predictive of the three.
Physics versus Metaphysics
Many look to physical causes as explanations for their predicament but ultimately find that the answers are not fully satisfying. Consequently, they seek to integrate these ostensibly competing world views. Metaphysical factors thus prove appealing to some degree. A mutation may explain why one has symptoms, but why does one have the mutation? Larger metaphysical questions persist of what causes the mutation in the first place. Some people implicitly or explicitly blame God or “the great beyond” for the gene. Peter, a former California businessman who now leads an Alpha support group, expresses agnosticism consistent with his sober view of humankind and insurance companies: “I don’t know if there is a God. But if there is a God, he fucked up.”
Others argue that God is the ultimate cause of a disease, but that one’s behavior, particularly diet and exercise, could nonetheless alter the course of the illness as well. Even if the underlying cause of the disease lies beyond one’s control, one could potentially affect when and how extensively the gene expresses itself. Anna, the African American secretary with diabetes and a strong family history of breast cancer but no symptoms or testing herself, feels that God has plans, but that people can nonetheless affect these.
God has a plan for everyone. He ain’t sending me to the doctors for no reason. So, if there’s anything wrong, there’s a reason why I went to the doctor: to find out. It can’t be prevented, because it’s inherited. But it can be helped: morally and physically.
She feels that full prevention is impossible, but that she can ameliorate the disease. Even if genes control whether and when a disease manifests itself, many patients feel they can nonetheless potentially influence to what degree it does so. Anna’s spiritual beliefs also dissuade her from undergoing testing.
Yet these spiritual beliefs cannot be willed. Isabelle, the social worker with breast cancer and the mutation, feels that her intellectual skepticism impedes her ability to benefit emotionally from spirituality. Her doubt outweighs her desire to believe. She does not wholly understand her inner obstacles to faith, but has to accept them.
The first time I ever wished I was religious was when I had cancer. We’re Jewish, but I was not brought up in a religious household. Jewish identity was always important to me, but not in terms of the religion—going to temple, believing in a God, or praying. I’ve seen people have tremendous strength from believing in God, praying, worshipping, and going to church or temple. I’m almost envious: to have something you can focus on, and really feel there is a Greater Being that can sort of make it all O.K. I don’t have that. I wish I could. But at this point in my life, I guess I’m too skeptical, for whatever reason.
She has difficulty grasping even her impediments to faith.
Given the vagaries, and shifting symptoms and possible evidence, many individuals also waver in their views. Beliefs do not necessarily exist a priori, but respond to evolving personal needs. These desires for belief can thus shape the nature and the content of the beliefs themselves. As Kym, the South Asian physician at risk of breast cancer but without symptoms or testing, said, “I am undecided whether things are predestined or not. Sometimes I think it’s all just chaos. Other times, I think we’re given what we can deal with on purpose, and there are reasons.”
Worsening symptoms can spur searches for a larger purpose, while improved health may reduce concern about these issues. She continued,
I believe what I need to at the time. In very difficult periods, I feel there has to be a bigger picture, and someone actually looking out for me: that this is happening for a reason, and I’m going to learn a lesson from this, find inner strength. There’s a purpose to all of this happening—there has to be. I can’t just be randomly put through this for no reason. When things are going O.K., I think about it less, and don’t have as strong a need to reach for something.
Especially when ill, she feels a larger meaning is imperative. Though she is not religious per se, life would simply be too painful without such a greater purpose.
FACTORS IN DECIDING
Several other factors shape these causal beliefs. Education can play a key role, though often tempered by other circumstances. Higher levels of education, and in particular training in science, can help in comprehending certain aspects of genetics. Shilpa, with a family history of breast cancer but asymptomatic and untested, was persuaded by her medical training more than her Hindu background, largely because her aunt in a rural Indian village, far from industrial carcinogens, developed cancer:
My science background helps. Most people think that if they have this gene, they have the disease. Society has that misconception. I say to them: no. You have a higher predisposition, but other things are involved: your body, proteins, hormones, and many unexplained variables.
Yet she sees these more complex conceptualizations blocked by societal needs—for example, psychological desires for certitude, and discomfort with ambiguity. “People want a full definite answer,” she said. “Maybe doctors don’t have time to explain all these things. But also in society: there is no in-between.” Individuals may cling to a definitive answer, even if it is incorrect.
Similarly, many feel they have not had sufficient scientific education or input to know how to judge these issues. Diane, the Spanish teacher who had an unplanned mastectomy but does not have a BRCAmutation, concluded that she simply does not know whether her cancer is genetic or environmental. She feels that the question is not for her to answer, as she lacks an adequate scientific background. Her self-perceived ignorance reflects a lack not in her education, but in existing medical knowledge. “I really don’t know if there is a genetic part of my cancer,” she said. “I don’t think it’s for me to decide, not having that kind of [scientific] knowledge. I don’t think anyone knows.” Her past experience also makes her appreciate the uncertainties involved in medical care.
Levels of education may in turn correlate with other factors, such as social class and ethnicity, but large amounts of information can also prove overwhelming and confusing in and of themselves. Beatrice, the Latina math teacher, felt that she had been given too much information, and expressed concern for other patients whose primary language is not English:
I was trying to decide whether to have radiation treatment. The doctor went through this whole explanation. I was trying to remember college biology. I have a master’s degree. But how do other patients deal with all this information coming at them? It must be incredibly scary. I felt like I had just taken a test in Biology 101. Suppose somebody didn’t understand English well?
A master’s degree does not necessarily provide genetic knowledge, and science advances swiftly. She highlights needs for increased public education.
TOLERATION OF AMBIGUITY
In viewing causes of disease, psychological factors, such as ability to tolerate ambiguity, can be critical, but also vary widely. People range considerably in their ability to cope with gray areas. As mentioned, the poet John Keats described this capacity by his term “negative capability.”
It can be hard to grasp these notions of risk—for example, that a mutation may only occasionally be present or manifest itself. Vera, the Asian executive, said about her BRCA mutation,
My boss said, “The reason you’re having a hard time with it is you’re not good at dealing with gray areas. You like knowing what the problem is, figuring it out, and fixing it.” But this is very gray. So I can’t say, “Oh, I’m going to do this,” and it’s a done deal. It’s not. And doctors could be wrong.
In part, as an immigrant, Vera’s background and experiences and those of her parents may have contributed to her vigorous search for surety and security.
It had to be hard for my parents to leave Asia, go to a country where they didn’t speak the language, accomplish something there, lose it again, and start all over. They just dealt with whatever was dealt to them. They kept going. Those are my examples.
She also did not at all expect the test result.
Others tolerate little ambiguity because they are by nature skeptical and cautious. Francine, with breast cancer in her mother but no symptoms or testing herself, felt she simply did not know the root of the cancer and was wary of commercialism, media, and hype.
I don’t know the cause. They say that specific brands of soda will sterilize you. But show me on paper. I’m the type of person who believes nothing that you hear, and only half of what you see.
An African American woman from a disadvantaged background with HIV, she felt disempowered, and mistrusts institutions and sources of power. She wanted proof.
This ability to tolerate ambiguity may itself not be fixed, but shift over time. Psychotherapy, maturity, and other factors may enhance capacities to accept uncertainty, rather than require definitude. Karl has altered his view, in part since learning he lacked the HD mutation:
Recently, I’m able to sort of accept the cosmic ambiguity and nuance of things. Part of that is maturity. Psychoanalysis has also made me much more flexible. I used to be very anxious, and didn’t like uncertainty at all. Now, I think more, “let’s see what happens.”
CHOOSING EVIDENCE: PERSONAL EPIDEMIOLOGY
These interviewees also frequently try to develop personal epidemiological theories, assessing possible evidence over time. Learning that one possesses a mutation can lead one to reject prior nongenetic theories and epidemiological views. The discovery of a mutation can help one understand family history, alleviate self-blame, and alter prior causal views, even in the face of folk wisdom and media reports about perceived environmental dangers. Mildred, in finance, with breast cancer and a family history, said that before she learned she had the mutation, she thought the disease
was environmental: Long Island, or red wine, or going to the beach. Everyone was coming down with cancer: lung, breast, prostate . . . We all said, “It’s in the water” or “some sewer pipe.” Now, I think about it differently. Someone might say, “Maybe it was a mixture.” But no. I keep reading: those who carry the gene are more likely to get cancer in middle age. I fit that perfectly. I got it in my left breast, then my right one. Someone said the odds of that happening were like getting hit by lightning. That is genetics.
Her mutation-positive test result and two consecutive bouts of cancer led her to alter her views, and eventually undergo prophylactic mastectomies.
Yet in contemplating their prognosis, others reject the ostensible epidemiological data and feel the statistics do not apply to them. Many think that compared to the population average, they are healthier or younger, or have different sociodemographics. They seek to sustain hope.
Rachel, for instance, whose family died in the Holocaust and who now has breast cancer and the mutation, feels that the statistics don’t apply to her because she has a healthy diet. She thinks her diet improves her prognosis, bolstering her optimism, and avoidance of depression.
The fact that I’m vegan should lower the risk. I don’t expose my body to most toxins. So, I don’t think an individual like me is in those statistics. Someone may say, “Yeah, but it’s a gene—black and white—there it is.” But I still don’t think I’m part of those statistics. If I had controlled my environment more, maybe the breast cancer wouldn’t have expressed itself in the first place.
She suggests regret, and possible wishful thinking. The mutation already expressed itself, but she seeks to believe she can still somewhat control her fate.
Young women with breast cancer (e.g., in their twenties and thirties) can encounter difficulty identifying an environmental factor to which they may have been exposed, having lived fewer years. Thus, these women face added stresses in trying to grasp the reasons for, and future course of, their illness. Rhonda, the 31-year-old mutation-positive nurse who had seen her mother’s death due to breast cancer, and was diagnosed at 23, acknowledged that genetics is important. But she feels that other factors could shape her precise clinical course. As a nurse, she is able to critique extrapolations from the medical literature. She thought she differed from older women, and that past studies thus did not really apply to her, either.
The statistics were all about women in their forties. Articles said if you drink too much, or eat too much red meat, you’ll get sick. But I’ve only been drinking two years, and don’t eat meat. At the time, there were no statistics about women in their thirties—never mind their twenties! Doctors said to me, “Put yourself in with the 40-year-olds.”
Yet she resists deducing her own fate from these other probabilities, seeking reasons to support her view. She doesn’t want these lower rates of survival to apply to her. In fact, she underwent aggressive prophylactic surgery based on her assumption that her disease is genetic.
Those with cancer but no mutation tend to look more to environmental sources, developing theories based on observations of broad epidemiological trends. As mentioned earlier, they cite ostensibly rising rates of cancer as evidence of such environmental effects, even if the specifics remain unknown—as do some individuals who in fact have a mutation.
People may also look to environmental factors to explain why only certain members of a family get sick. Vera, tested because she was Asian, said that she was the first one in her family to develop breast cancer, and she blames cultural factors: “I am the youngest one in my family, and the most Westernized. Cancer struck me, and not my siblings. I eat more fast food, and sit in front of my computer all day.” Though she has the mutation, these personal differences make her downplay the role of genetics.
Many individuals struggle to judge precisely which possible environmental or behavioral factors are involved. Yet to do so can be hard. Carmen, the Latina former clerical aide with breast and thyroid cancer and the BRCAmutation but no known family history, does not have much education, and faults environmental factors.
I live near a power plant, and my daughter gets sick from asthma. I don’t know if that’s from the plant. A lot of people say it is. I’m not sure. I smoked and took birth control pills when I was younger. I think that contributed to breast cancer.
Particularly as a poorer minority woman, she feels impotent to reduce these possible environmental factors. To her, the disease and industrial contaminants all feel beyond her control. As will be discussed later, larger political beliefs can thus affect these calculations as well. Many poorer women of color, especially, feel powerless to alter larger economic and political forces.
Politically based beliefs can be strong, and persist in the face of possible alternative evidence. For instance, Laura, the graphic designer who surmised her mutation from her genetic counselor’s request to have a trainee sit in, said that her family initially thought that their cancer arose from local industrial pollution. But now, knowledge that she has a mutation is forcing her to reconsider. She illustrates how families can ponder these etiological puzzles as a whole.
My mom and her sister have had cancer three times, whereas their other two siblings never did. Everyone says: “Probably pollution. They grew up in a big refining town.” It has always been fascinating that two siblings would be so hard hit, and the other two wouldn’t.
Yet the disease could potentially still result from genetics, since not everyone in a family may inherit a mutation. Laura highlights a common misunderstanding that a genetic disease would invariably affect everyone in a family.
Over time, further observations, testing, and diagnoses can challenge such logic. But political views and ideologies die hard. Countervailing pressures can block changes in etiological beliefs, even in the face of data. For example, when Laura subsequently found she had a mutation she minimized the impact of environmental factors somewhat, but not entirely. As she contemplates the etiology of her disease, her political beliefs as an environmentalist still linger.
I’m thinking more that the chemicals in the area didn’t really have anything to do with it at all. But I’m such a big environmentalist that I can’t let that go completely out of my head—though genetics people pooh-pooh the idea.
She and others thus attempt to integrate their medical history, epidemiological observations, and political views, shaping causal theories of their disease.
Those who had breast cancer but lack a mutation also face complexities and ambiguities. Some have a strong family history, and conclude that additional mutations, not yet discovered, have to be involved. Others look more to environmental phenomena. With cancer and a mutation-negative test, Denise, the banker with a master’s degree, chose bilateral mastectomies rather than a lumpectomy simply because of her family history:
I bet there probably is a gene—they just haven’t come across it yet. Sometimes I think: could it have been the radiation? I’ve had more radiation to my breasts than the average person. I wonder if I have too many mammograms. But my gut feeling is that it is genetic.
She speaks of “betting” and her “gut feeling,” grappling with the inherent uncertainties.
Samantha, the actress, also had breast cancer and lacks a mutation, but her prior narrative of her life—especially a recent personal trauma—molds her theory. Diagnosed after a horrible breakup with her boyfriend, she feels that personal, not wider environmental, stress is relatively more responsible for her disease. In defense of her causal theories, she, too, engages in deductive reasoning, providing arguments. For instance, she wonders why, if environmental factors are the cause, breast cancer is not more common.
The environment is significant, but then why wouldn’t everybody be getting cancer? I wasn’t exposed to a ridiculous amount of radiation, but was very susceptible, because I was constantly stressed-out my whole life. My immune system is probably shot.
She challenges the environmental hypothesis, suggesting counter arguments. The philosopher of science Karl Popper13 described such an attempt at “falsifying” a hypothesis (i.e., asking why, if the cause was environmental, the disease wouldn’t be more widespread) as an essential characteristic of scientific, as opposed to “pseudoscientific,” thinking. Samantha’s reasoning here is valid and impressive.
NEEDS TO ASSIGN AND AVOID BLAME
Not surprisingly, genetics poses conundra of whether and how much individuals themselves or others are at fault for a disease, and what such attributions mean. Desires to avoid such blame and assign it elsewhere often shape these causal theories.
Popular beliefs, promulgated in the media, and at times bolstered by scientists themselves, have ascribed various illnesses to poor health habits—from smoking to unexpressed anger. Patients may thus be seen—by themselves or others—as being responsible for their illness because they practiced, and did not stop, these behaviors.
According to the Oxford English Dictionary, “blame” is derived from the Greek word for “blaspheme.” The word came to mean “revile” and “reproach” in Latin, and now also means “to find fault with, to rebuke, scold, accuse, and fix responsibility on,” and as a noun means “responsibility for a bad result or something wrong.” Thus, while “cause” may refer to both good and bad events, blame carries a moral sense of something “wrong.” Issues of blame for illness have been explored with regard to other kinds of disease, but much less with regard to genetics. The anthropologist Evans-Pritchard described how the Azande tribe in Africa desperately sought to assign blame for illness and other calamities, invoking a certain logic.14 In the case of HIV, Paul Farmer and others have examined how blame can exacerbate stigma.15 The American public may be more likely to stigmatize individuals whom they see as blameworthy for their disease.16 But questions arise of how individuals who have or are at risk for these diseases themselves in fact see and experience these issues.
A few individuals blame themselves for their illness. Past traumatic experiences (e.g., history of incest, other stigmatized experiences, being a teenage mother) lead some to fault themselves for their disease. Those who have always felt that something was fundamentally “wrong” with them often see a genetic diagnosis as somehow confirming these feelings. These individuals also generally appeared somewhat depressed, which could result from, or contribute to, these views.
Most individuals struggle to avoid such self-blame—not just stigma that might result, but feelings that they somehow deserve their disease. Both internal guilt and fears of outward stigma propel efforts to eschew self-accusation. Instead, the men and women here generally seek to blame their disease on other factors, not themselves. Yet conflict can ensue.
GENETICS AS GETTING PEOPLE OFF THE HOOK
As suggested earlier, for good or bad, genetic explanations can be seen as reducing personal or social responsibility. For breast cancer, some thought that a positive genetic test would mitigate their own self-blame. Joyce, who worked in a spa and had attributed her cancer to the stresses of living in Chicago and New York, said that if she had been mutation-positive, “I’d feel devoid of all responsibility for my cancer.” Instead, without the mutation, she is left chiding, in part, herself.
Blame becomes burdensome because it can imply that one then deserves a disease as punishment. Prior to genetic testing, other people may have blamed a patient for his or her cancer—implying that his or her poor diet, limited exercise, or misbehavior must have merited punishment. The presence of a mutation can potentially remove that onus.
THE ROLE OF LUCK
While some individuals see God as the cause, others look to fortune. In the face of unknown scientific factors, apparent randomness and potential blame, many invoke notions of luck. These beliefs have important implications for concepts of both cause and responsibility, and allow individuals to think that they might somehow defy the odds by being lucky.
Notions of luck persist in science, usually as metaphors. But the concept has received little attention in the medical literature, and its meanings are not always clear. I searched Medline and found that the word appeared in the titles of 183 articles (in English) since 1948. But none of the articles in medical science appeared to define it. Most of the manuscripts used the word “luck” in the title, and nowhere else. Luck is also mentioned in patient surveys, but the meanings are hazy.
According to the Oxford English Dictionary (OED), “luck” derives from the Low German luk, and later the German Glück (meaning “good fortune, happiness”), and probably originated as a gambling term. The OED proceeds to define luck as follows, suggesting several related but in fact somewhat distinct phenomena:
The effect of . . . uncontrollable events; the sum of fortuitous events affecting (favorably or unfavorably) a person’s interest . . . a person’s apparent tendency to have good or ill fortune . . . Chance regarded as a cause or bestower of good or ill fortune (sometimes personified [as] Lady Luck).17
Though little studied in medicine, philosophers and psychologists have recently examined the concept. But between these two disciplines, perspectives, contexts, and priorities differ. Philosophers have generally appeared more interested in how luck may serve to limit moral responsibility. If one is unlucky, then one is less responsible.18,19 On the other hand, psychological research has tended to explore several other dimensions of luck—whether people can or cannot control events—for example, how everyday intuitions about luck may be contradictory in referring to external events (which the individual cannot readily control) or people (who presumably can potentially control aspects of their behavior). “Luck” can refer to a person, while “chance” may refer more to external environmental events, and represents an external or unstable and uncontrollable cause.20 People may be seen as having skill at somehow manipulating events (i.e., to have great luck). Individuals may also have an “illusion of control.”21 In addition, events may be seen as lucky if they could have been worse (i.e., compared to counter-factual possible events).14 Malinowski22 and anthropologists have also described belief systems concerning luck and magic as providing religious or other culturally sanctioned explanations of natural phenomena.
But as a whole, the medical, psychological, and philosophical literature have generally paid relatively little attention to these notions of luck, magic, and beliefs in controllability. Key questions thus remain as to whether insights from psychology, philosophy, anthropology, and medicine can be integrated, and if so, how.
The men and women here often referred to luck in attempting to make sense of the presence or absence of mutations and phenotypic variations. The concept arose spontaneously as widely used and culturally embedded, with many interviewees saying they felt either lucky or unlucky.
On the one hand, some people spoke of luck to suggest that they were not responsible for events that happened to them, and that an external agency was somehow instead involved. This notion jives with that of many philosophers. Karl, partly due to his childhood abuse, saw people invoking both genetics and luck to reduce their own responsibility for problems:
People don’t want to take responsibility for their own behavior. “We’re not responsible for the failure. That was just bad luck.” Or “we’re not responsible for your success, that was just good luck”: The cosmic has reached in.
Individuals may ascribe genetic events to luck, rather than attribute responsibility for an illness to the person. Karl feels that bad luck results from bad judgment. In the end, he holds people, including his father, as responsible for their behavior and its effects, including harmful repercussions. Yet Karl suggests that luck provides not only freedom from responsibility, but a sense of order and explanation as well—a source—“the cosmic.” He thereby echoes the perspectives of philosophers, psychologists, and anthropologists—though these disciplines have tended not to address or include each other’s views.
Perceptions of luck can also be fluid and dynamic—not static. Individuals may shift, not taking responsibility for baleful effects of their decisions, and seeing the denouements as misfortune rather than as their fault. Conversely, individuals may be seen as creating their own luck, through good choices. Karl felt strongly:
People make their own luck: It’s how you take advantage of situations. You can take advantage of all opportunities that come along, and later on, weed them out. You go through a learning period, when you make some stupid mistakes: “Maybe I shouldn’t do that next time.” People who refuse to learn, or don’t take advantage of opportunities, have lousy luck. People who learn from their mistakes and accept new situations tend to have good luck.
But in any particular situation, individuals can disagree about whether luck is involved, and if so, how. Patients and external observers may conflict in whether they think luck has played a role. Karl continued, “A friend thinks he has terrible luck: permanently stuck in this place. But, he is not a guy with bad luck; he is a shlemiel who doesn’t make very good choices for himself.”
Still, whether an individual can wholly control these actions is disputable. Observers may perceive the extent of a person’s good or bad luck differently than that person does him or herself.
As anthropologists such as Evans-Pritchard suggest, luck can be particularly invoked when other causes are unknown—that is, as a “stand-in” for as yet unidentified causes or contributory factors—in this case, as-yet unidentified genes. Invocations of luck may thus reflect residual gaps in scientific explanations. For instance, Benjamin, the 54-year-old engineer, considered himself to be fortunate since despite his Alpha, he still had health and thus, he believed, “better” genes than many other patients with his condition.
I consider myself lucky: A lot of Alphas die younger than me. If there are such things as milder forms of the disease, and better genetic mixes, I must have ended up with them. I even smoked for 20 years!
His comments parallel scientific notions of so-called modifying genes that can alter the impact of a mutation on an individual, but are not deleterious in and of themselves, and may result in individual differences. However, scientists have not yet elucidated the details involved, leaving room for these perceptions of chance.
Luck arises, too, as an explanation when an individual defies the odds—going against expected disease progression, without other explicit physical explanations. As Gilbert, the factory worker with Alpha, whose children smoke, said, “People smoke, but haven’t shown any signs yet. They may just be plain lucky.”
In facing the vast uncertainties involved, Benjamin and Gilbert, with Alpha, hesitate to take (or be given) responsibility for good events in order not to “jinx” their luck. In contrast, Karl, who is healthy, described a man who sought to eschew responsibility for bad events in order to avoid being blamed. Painfully aware of the fragility and potential instability of their health, Benjamin and Gilbert choose modesty over tempting fate. Both these stances assume some larger order in the universe.
Others perceive God’s favor, or lack thereof, as luck beyond their control. Carmen, the Catholic with breast and thyroid cancer and a mutation, said, “I guess He does it for some people and not others. It’s just luck.” She looks to God as the final mover of events. Individuals thus differ in how, and to what degree, they believe luck is related to spirituality.
These men and women highlight how disagreements and negotiations about assessments of luck occur. Individuals at times disagree as to whether luck is involved in a particular situation, and if so, to what degree. While one person may argue that he or she simply has bad luck, others may think that that he or she has simply made a series of bad choices.
Surprisingly, the OED does not comment on how and when luck is invoked. In the face of uncertainty, scientists and patients may do so when they don’t know why a medical event has occurred—for example, why a person has deviated from the expected norm, becoming ill earlier or later than expected. The OED also does not mention the notion that luck alleviates responsibility. If luck exacerbated symptoms, then the individual him or herself did not do so—that is, bad luck, rather than poor diet and lack of exercise, is responsible.
Luck thus emerges here in the absence of a clear cause, as both a causal explanation and a moral excuse—a combination that serves to lessen responsibility—for illness, rather than immoral behaviors. These men and women view luck as an external and/or internal force. Hence, these interviewees invoke and combine philosophical, psychological, and anthropological approaches to luck—as explanations and exculpation in the face of scientific uncertainty. Yet they also indicate how this concept can be highly contested, which has received little attention heretofore.
EFFECTS ON COPING
These multi-faceted issues of cause and blame can affect coping in several ways. On the one hand, the discovery of a genetic cause of one’s disease can help one accept one’s disease. When initially learning that they have a mutation, some individuals feel relief, since it means that they are not to blame for their symptoms. For Alpha in particular, a mutation-positive test can reduce responsibility, since this diagnosis is viewed less negatively than emphysema, which results from smoking. Therefore, whether the discovery of a genetic mutation lowers perceived “taintedness” depends on what this new level of stigma is compared to. Alternative diagnoses or explanations for a patient’s symptoms may have more or less stigma. As Betty, the designer who carries a bag containing an oxygen concentrator, said, “I feel less stigma with Alpha than I did with emphysema, because it’s not necessarily pinned as being my fault. It was just the luck of the draw.” For her, too, luck means the disease is not her fault, and is thus less stigmatized.
With HD, a mutation can explain frightening or stigmatized symptoms, particularly cognitive and psychiatric problems otherwise blamed on the individual. Acknowledgment that a disease is not self-willed or voluntary, but instead beyond the patient’s control, can help a patient establish more realistic expectations for him or herself. Before her HD diagnosis, Mary, the housewife and mother, would
feel bad, and think, “I’m so lazy. I should be doing this or that.” It ripped me apart, not reading to my kid, or doing the laundry. Now, I feel better, and give myself more of a break. I know: I’m not really that lazy. I used to forget things. Now, I know I’m not going to remember. So I write them down.
Patients may be particularly faulted for psychiatric symptoms. Wilma views her bipolar disorder as genetic, and her breast cancer as caused by environmental problems. She sees the psychiatric disorder as more tainted than cancer, and wants to disallow any responsibility for the former. Partly as a result, she has refused genetic testing.
A genetic cause can reduce stigma because this explanation suggests not only that the individual did not cause the symptoms him or herself, but that the disease is not infectious, either. Fear of contagion can prompt ostracization. Strangers who observe HD and do not know the genetic basis of the disorder may irrationally fear that they can catch it. Roger, who tested for HD only when his car swerved off the road, said, “I have to explain that HD is genetic, not airborne. A friend was scared because he thought it was airborne. Once you say ‘disease,’ some people think you’re going to kill them!”
People who do not yet understand the cause of HD can not only hold a patient responsible, but treat the patient harshly, or even abusively. For HD, blame can thus be particularly harmful, serving to justify anger at the patient. Genetic testing can potentially reduce such misunderstanding and frustration. As John, who dropped out of graduate school because of the HD in his family and later found he lacked the mutation, explained,
My sister’s symptoms brought out the worst in her husband. He’d humiliate her. For a long time he thought she didn’t have HD, and that all these symptoms were her fault. He’d get mad. I thought it would be better for her to be in “a home,” even though she really wanted to be at home and be his wife.
A mutation-positive test also can alleviate fault for not only current symptoms, but prior lack of prevention. For example, Anna, the African American former secretary with diabetes and a family history of breast cancer, felt that if her ailments were genetic she could not be blamed for her past behavioral lapses—poor diet or exercise. The fact that a disease could have a genetic basis was comforting, since it would mean that “it didn’t come from me doing the wrong thing.”
Anna is untested, but rejects the possibility that her behavior may have played any role in her disease—she does not want to admit any culpability whatsoever. Here, again, given desires to assign blame outside oneself, interviewees tended to see these diseases as purely genetic or not, rather than as having mixed etiologies.
Genetic information can not only remove negative images, but offer positive ones. For instance, a mutation-positive result can provide validation and vindication for individuals who develop cancer despite healthy living. For an individual who tried to follow a healthy lifestyle and nevertheless got sick, others may see the diagnosis as ironic justice. To reconcile one’s diagnoses with one’s self-image as “healthy” can be hard. Others who scoff at preventive behaviors may feel vindicated. Learning that one has a disease due to a mutation can thus re-instill a sense of cosmic “fairness.” Rachel, whose family died in the Holocaust and who now had breast cancer and the mutation, said,
I was a completely healthy eater. I don’t have a lot of junk food in my house, and have always taken vitamins. When kids come over, I have ice cream or cookies in the house, but no Cheetos and Doritos. So, jokingly, other mothers would say I was a bad mom. When I learned I have this mutation, some people felt, “Well, even that didn’t help save her”—all that health food stuff I’ve been saying. They felt there was some poetic justice to the fact that after all of these healthy behaviors, I got breast cancer. So, when I found out it was a gene mutation, I felt better. It let me say: “It wasn’t in my complete control.”
A mutation-positive result can thus reaffirm one’s sense of both self-esteem and justice in the universe.
Conversely, a mutation-negative test result can potentially increase blame of the patient. Failure to find a mutation leads some to feel that their illness must have been self-initiated. Joyce, the spa employee with cancer but no mutation who attributed her cancer in part to difficulties of urban living, continued:
Sometimes I blame myself for this cancer. I think it was stress-related. I had this messy divorce, and was a single mother, struggling financially. A month before 9/11, my grandmother and my father died. Then 9/11 happened. Then I got diagnosed.
In part, since she lacked the BRCA1/2 mutation, she felt that genetics was not at all involved, and she thus faulted herself even more.
Yet in addition to reducing possible stigma, a genetic explanation can also enhance social support and entrance into the sick role. Patients who learn that they have a mutation may thus feel more relief. As Roger, tested after having problems driving, said about his HD mutation,
If people understand what’s going on, they help you out. I say, “Do you mind getting a plate for me?” “Sure. No problem. Do you want me to cut the food for you? Do you want me to write your checks for you?” That’s why I explain what’s going on. If they didn’t understand, they’d say, “Write your own checks, lazy!”
Lowered blameworthiness can also facilitate further disclosures of the disease to others. Bill, the asymptomatic, untested salesman who resembles his father, and now cares for his HD-affected brother, thinks the disease is easier to divulge than others—even HIV—because it is genetic, and hence not the patient’s fault.
A lot of people hide AIDS, because they got it from doing something dangerous or illicit—being homosexual or a drug user—practices not acceptable to society. But if you’re born with something, you’ve got no control over it. Why hide that? It’s not your fault.
The fact that he has no symptoms also makes it easier to be open about his risk. Disease etiologies—genetic or otherwise—have critical implications for the empathy patients may receive.
The possibility of decreasing self-blame can also prompt genetic testing. Jan had breast cancer and turned out to be mutation-negative, but wanted to have the mutation, since it would have reduced her personal responsibility for her disease. She would also then have had a genetic explanation for why she was different from the rest of her family.
It would have given me peace of mind that there is a link, and a reason why I’m the only one in my family with breast cancer. People with no gene link still don’t know the reason. At least I would have known.
Indeed, others blamed her for her illness, saying, “Maybe if you weren’t on the pill, this wouldn’t have happened.” She thus felt that the pros of learning of the presence of a mutation would have outweighed the cons.
Others see mutation-positive tests as both an advantage in reducing stigma, but a disadvantage as well. Knowledge of a mutation can be a mixed blessing: it reduces blame, but still constitutes bad news. Nonetheless, at least for Alpha, given that treatment is available, the good news often outweighs the bad. As Barbara, the part-time professor who feels guilty about having smoked near her daughter, said,
The diagnosis both relieved and traumatized me. I was relieved because I found out what it was: this mysterious thing I kept blaming myself for. I had thought: maybe I hadn’t eaten right, or my heart was closed. But the doctor put his hand on mine and said, “No, you were bornthis way.” I learned that a lot of my problems were related to the disease: being tired, anxious, short-tempered. If I can’t breathe or get enough oxygen, I get irritable. The diagnosis helped. Now, I pace myself.
The fact that she had smoked contributed to her sense that she had exacerbated her symptoms; the discovery of a mutation eased her regret.
Problems if One May Have Contributed to One’s Disease
Patients who feel that they may have contributed to their disease even in some small way thus face added dilemmas of how to make sense of that possibility. Given remaining uncertainties, they are often not clear how to parse responsibility, guilt, and self-blame. Combinations of genetic and nongenetic (behavioral or environmental) factors can be hard to grasp, integrate, or accept. Many desire a black or white, all-or-none answer—whether they are responsible or not. Yet quantifying responsibility is difficult, if not impossible. As Benjamin, the engineer, said about his Alpha, “People ask: ‘Did you smoke?’ I don’t like that question, because the answer is ‘Yes.’ Or I say, ‘Yes, but I had a predis-position that caused my disease.’” He admitted to his behavior, but still sought exoneration.
Patients may wish to excuse themselves on the grounds that they were unaware at the time that they were contributing to their eventual illness. Charles, the accountant and former smoker, felt that “a good part” of his Alpha was “self-inflicted, though I didn’t know I had the disease then.” Yet even after learning of their genetic predisposition, he and many others continue to engage in risks, still frequenting smoky bars: “A bunch of us have been going there for years.” He justifies this behavior by pointing out that going there is a tradition, and that he is not the only one. To reduce hazardous behavior can be hard.
The Politics of Environmental Factors
As suggested earlier, broad political views can also affect beliefs about the nature and impact of environmental factors. In particular, those who feel disempowerment and discrimination sense that capitalistic greed generated both known and unknown environmental harms. Hilda, the African American health aide with breast cancer and a family history of the disease but no testing, felt that she received lower quality health care because of her race, and that her cancer resulted from industrial disregard.
People in the Bronx have more cancer and breathing problems. A lot of things go on in the Bronx that don’t in Manhattan. I know that for a fact. The water, everything. There’s more garbage and garbage dumps and landfills. That’s what co-op city is built on. I think about it a lot. More people are catching cancer than ever. I don’t believe it’s from God, or genetics. It’s from the environment.
She feels that corporate indifference (things “they” do) endanger marginalized people, including her. Yet this causal belief also diminishes her inclination to undergo genetic testing.
Moreover, political disempowerment can make one feel unable to counter these forces, or even acquire much information about them. Bonnie, the asymptomatic, untested 24-year-old who had seen breast cancer in her mother and sister, was concerned about the environment. “We just don’t know anymore what’s in the air or our food,” she said.
In part due to underlying political views, beliefs that environmental factors contribute to disease can foster anger that ostensible genetic explanations are receiving too much attention. Several men and women argued that focus on genetics decreases attention to politically important environmental harms. As Bonnie continued,
Genetic testing makes people too relaxed. Maybe I’m O.K. genetically, but going to get breast cancer because of my environment. You always have to be aware of what’s going on environmentally, or something will happen, and it might be too late.
Having seen cancer in her mother and sister, she fears it, and advocates heightened political action. She cannot control what genes she has, but she can potentially improve her environment.
Broad societal questions surface as well concerning the degrees to which certain groups of individuals have a role in causing or curing their disease. Karl, abused as a child and lacking the HD mutation, felt,
Genetics is a way of people avoiding responsibility for things. For example, “Society didn’t create alcoholism. It happens to people because they have the wrong genes.” It’s a genetic problem. It isn’t even society’s problem.”
He spoke with irony, believing that social forces in fact played key roles, too. He sees genetics as unjustifiably exculpating social processes and policy makers for responsibility for social problems. The specific boundaries between these alternative sets of forces may be unclear. Yet integrating these competing beliefs can be hard.
Lack of Control: Fatalism and Depression
Desires for hope and avoidance of despair both result from and lead to these causal views. Often, fatalism appears to exacerbate depression, while beliefs in metaphysics offer solace.
Regardless of the causal theories they adopt, these patients then wrestle with questions of whether they could affect their fate, and if so, how. Many want to believe in controllability, yet empirical evidence may not support this possibility—certainly not as much as these individuals wish. Desires to prevail over disease can prompt incorrect beliefs. Even those who favor physical explanations still often seek to view these causes within larger cosmological frameworks in order to regain some sense of control. Individuals frequently conceptualize forces in the universe beyond our influence as randomness and chance. Harriet, a schoolteacher with an extensive family history of breast cancer, no symptoms, and an inconclusive test result, felt that ultimately she could not alter her fate: “Why me? It’s just beyond our control. When the cells are multiplying, something just went whack.”
Yet perceived lack of control could make individuals feel stuck and depressed. Diane, who had an unanticipated mastectomy, felt she had no control over her fate. The trauma of unexpected surgery left her feeling helpless. Since then she has come to feel more stoical, but remains unsure of the relative advantages and disadvantages of these various views.
Since the operation, I’ve become more fatalistic. Before, I had much more trust in life. I felt that things were more up to me: you decide the life you make. Then this happened, totally unpredictable and unplanned, and changed my outlook. Maybe it’s more realistic. Who knows?
LESSENING THE IMPACT OF GENES: SEEKING CONTROL
Individuals often hope they can control their fate, but vary widely in whether they feel they are indeed able to do so, to what degree, and how. They yearn for control, but are unsure whether they in fact have any, or whether God alone caused their illness. In general, amounts of control vary with several broad types of non-genetic biological factors: those over which individuals readily have some sway (e.g., diet and exercise), have no influence (air pollution), or can affect only with difficulty (staying in a stressful job that, in retrospect, may have contributed to disease).
In confronting their genetic risks, many who oppose genetic determinism believe they can alter the course of their disease through the power of positive thinking. These views partly reflect wider beliefs and popular psychology, and can reduce the harsh inevitabilities of genetic determinism. Thus, these notions can take on metaphysical overtones, including countercultural New Age ideas. To support these views, some look for scientific grounding as well. Shilpa, the Hindu medical student at risk of breast cancer without symptoms or testing, tries to integrate physical and metaphysical beliefs. “Quantum physics believes we have control of our destiny by the power of our thinking,” she said. “Your reality is what you believe to be real.”
Though many think that behavioral factors at least contribute to disease, and conversely can reverse a certain amount of it, questions remain as to when, how, and to what degree. Many believe or wish to believe that they can control certain realms of their lives, and look to extend such self-determination to their health as well. Karl said, in part due to his abuse:
I don’t believe we’re just a bag of genes, and walk around, doing what our genes tell us. There’s a lot of will involved in our lives. Behavior, feelings, experiences are defined by a multitude of things. Genetics is part of it. You have an effect over plenty of things. I taught myself to play music, and got good at it.
Yet the fact that he lacks the HD mutation also helps mold his attitude. His and others’ own medical status and experiences can thus guide their theories about genetics versus freedom.
Many feel that spirituality, too, may have a role—though the specific mechanisms vary. Such beliefs are thought to reduce disease either directly or indirectly. Spirituality may not eliminate a disease, but it can decrease stress, which can in turn affect the illness. Individuals often thought that specific, concrete behaviors that contribute to cardiac and certain other common diseases could also affect genetic, additional disorders. Others feel that simply learning about their disease risk and potential prevention options can reduce perceived impotence, and consequently enhances coping. Bonnie, who had seen cancer in her mother and sister but is untested and asymptomatic, said, “I educate myself, so I feel more empowered. If I wasn’t educated about available testing and medicine, I would feel helpless. My craving to know everything makes me not feel helpless.”
In seeking to support their beliefs that behavior and free will could overcome or affect genetics, many draw on folk mythologies that offer models and analogies from behavioral genetics—for example, regarding homosexuality. Antonia, the neuroscientist, said,
Ultimately, someone’s will is stronger than their genetics. You’re born with certain genes which predispose you to whatever. Gay people are born gay—it’s genetic—but you can choose to suppress it, or go with it.
Though homosexuality has not yet been show to be genetic, she and many others suspect that it will eventually be found to be so.
Most people pursue these ideas further, adopting behaviors that they feel can be beneficial—such as lowering stress. They believe that a gene-positive test does not constitute their utter fate because they can still control their destiny through certain actions. If stress can exacerbate symptoms, then decreasing it can help. Some blame stress and invoke New Age or Eastern philosophies, holding quasi-religious beliefs that a lack of bodily balance, induced by stress, causes disease. Diane, the Spanish teacher with the unplanned mastectomy, looked to psychological factors in part because she tested mutation-negative.
Many things in my life that were not harmonious might have been precipitating factors. If your body is imbalanced, there are consequences. My childhood was not very good. My parents didn’t get along. My mother had seven kids. It was after the war—not easy. My entire childhood caused stress.
Whether childhood stress in fact contributes to later breast cancer is not clear, but the larger point here is that she and others seek to understand their disease in this way, drawing on their former beliefs about themselves. They try to fit genetic information about themselves into their prior ongoing narratives about their lives. Genetics can thus become part of this life story, rather than radically disrupting it.
Yet others who have mutations nonetheless look to non-genetic factors as also having roles—at times citing physical mechanisms through which they feel these factors operate. Triggers (which, as we saw, could serve as ways of integrating genetic and other factors) also provide room for beliefs about control. Some think their disease is activated by stress, citing a weakened immune system as the mechanism. They feel they can thus reduce their disease by lowering these pressures. Rachel, whose family died in the Holocaust and who now has breast cancer and the BRCA mutation, struggles to grasp the causal roles of genetic versus nongenetic factors. “My gene would not have expressed itself had I been able to control the way I processed stress,” she said. “Stress lowers your immune system. It killed my father. It’s the antioxidant supreme!”
She invokes popular myths about antioxidants that have been hypothesized to play roles, but have not yet shown to be effective antidotes. Nonetheless, the firmness of her convictions reflects the strength of her underlying need to believe that she has some influence over her destiny. In trying to view stress as a factor or “cause,” she sees it as operating by shaping not whether, but when and how severely her disease may affect her. “I have control to some degree over how long I’ll live,” she said. “The control is in how I eliminate stress. I think more positively, and as a result, am happy. That is one of the largest predictors of life.”
Yet decreasing stress can be hard. The psychological pressures cited as contributing to cancer ranged from specific to general, and are not always readily avoidable. Many tensions of modern living can be involved. Ori, the Israeli with breast cancer, came to the conclusion based on her lack of mutation or family history that
I can’t pinpoint one particular behavior that can be removed. I don’t think it’s genetic. Maybe it’s from not sleeping enough, taxing the body, being stressed, not letting the T-cells do their thing. I’m guilty of not allowing them to patrol well. I’m always under some stress. It’s the life we live: everything is a deadline!
Diet and Complementary and Alternative Medicine
Many believe that eating poorly can exacerbate disease, and eating well can be therapeutic, and they consequently try to alter their diet. Bonnie, having seen her mother’s and sister’s breast cancer, became an organic vegetarian as a result. “Our family’s been meat eaters, and all have cancer,” she reported. “More processed, genetically modified and improved food will hurt us. I eat less processed foods and feel much healthier.” Though no evidence yet exists to support the notion that genetically modified foods harm consumers, she suggests a strong and persistent desire to blame at least something, or find an alterable factor.
Whether they felt that their illness resulted from genetics or environment, individuals had to decide whether and how much to try to lessen versus continue these perceived behavioral risks.
Conversely, discovery that one has a mutation can reduce preventive behavior, which may then seem superfluous. The presence of a mutation can make some individuals more fatalistic, and less inclined to alter their diet. Mildred, who works in finance, underwent genetic testing to see if she could avoid prophylactic surgery. Sadly, she turned out to have the mutation, and chose surgery. “After I had breast cancer, I started to eat organic eggs and organic chicken,” she said. “Then, once I got tested genetically, I said, ‘Well, that’s out the window.’”
Some acknowledge genetic factors but feel that environmental and behavioral variables can still nonetheless play important roles. Given the desire for control, many think that willed behaviors can potentially modulate genetic factors, and that genetic testing is thus superfluous.
Physicians generally failed to support beliefs in complimentary and alternative medicine (CAM), and at times were even antagonistic. Some patients feel that physicians frequently conspire against such alternative approaches, and that much of medical research is misguided in dismissing these purported therapies. Samantha, the actress with breast cancer and no family history or mutation, said,
No one told me to change my diet. During my chemotherapy, I was drinking Pepsi. The doctor said that was fine. Now, they don’t want me to take herbs. I’m doing a lot of alternative therapy, but I didn’t tell my doctor. A woman gives me colonics. She cured herself of uterine cancer.
Holistic approaches are often seen as challenging and threatening the medical model. Samantha thought that diet, CAM, and spirituality were all closely related.
There’s a whole cancer conspiracy: books about how they know a cure for cancer, but are not saying it, because many people would be out of a job—the pharmaceutical companies. I don’t think people are that evil. But things are overlooked. People are against this whole emotional dimension, because they’re scared.
At times, medical and political beliefs blur together—for example, that capitalist society stresses people in ways that precipitate cancer. Samantha added,
This society is very screwed up. There’s too much about the way people look—too much pressure on women. Maybe that’s why everybody’s getting breast cancer. Half of America is constipated!
She believes that doctors overemphasize genetics, and she cites rising rates of breast cancer as evidence of environmental rather than genetic factors. She argues that as a result, her doctors missed her diagnosis: “I went to four different doctors and they didn’t pick it up at all. They totally disregarded other possibilities.”
Samantha remains biased against the medical model, as she feels it overemphasizes pharmaceuticals. Similarly, she takes an antidepressant, but attributes her improved mental state not to it, but to CAM. She feels that holistic practices have in fact made her healthier than ever before. Several nonscientific and antiscientific attitudes—reflecting views about politics, economics, psychology, and spirituality—can thus mold beliefs about etiology and treatment. She continued:
Two different psychics, who don’t even know each other, saw toxicity in my colon. Everybody says, “You’ve never looked better.” I’m still on the Zoloft. But this drug thing’s getting a little out of control.
Yet even she and others who feel that they can alter their destiny face questions of to what extent they can do so. Individuals struggle with how much they can reduce a disease with strong genetic components, and how so. Many believe that a degree of influence was possible, but they then grappled with judging the amount, nature, and scope of this control and free will. Kym, the South Asian physician with a family history of breast cancer but no symptoms or testing, feels it is still worth trying to alter her fate, even if the change is small.
I try to maintain a positive attitude, a healthy lifestyle, and stay active. There’s something to mind/body medicine. You can affect it—maybe not completely prevent or change something 100%, but maybe change the outcome a little. Maybe some things are loosely in place for us, but can be manipulated a little bit. Destiny is probably already mapped out: getting it or not. But I can maybe affect that a little bit.
Others are far less sanguine about their capacity to affect their genes. Kym feels it is never too late to engage in possible prevention, even if such efforts have not been proven to work—the costs can be relatively low, and the benefits high. But other interviewees find even these costs too high. Beliefs that altering behavior can reduce disease do not always sustain these changes over time. Nonetheless, the utter bleakness of a fatalistic stance propels attempts to seek some positive frameworks, despite lingering doubts. Diane, who had the unexpected mastectomy but no family history or mutation, said, “I’m fully aware the cancer can happen again, but que sera, sera. Perhaps there is some kind of a renewal thing—like the Indians believe.” She muses about spiritual beliefs concerning reincarnation, but remains unsure. Her unexpected surgery, and the fact that she lacks a mutation or family history heighten her belief in the unpredictability of fate.
Others, who think that etiological factors can potentially be altered, nonetheless do not always feel able to affect such change. Logistical barriers can loom. Environmental factors can be too widespread, and thus difficult, if not impossible, to eliminate. For example, urban pollution may exacerbate Alpha, but not enough to justify relocation to a rural area. Charles, the accountant who still frequents smoky bars, said, “My wife and I really like New York. But pollution is part of life here.” He resigns himself to the risk.
Elimination of environmental factors can also compete with other desires or needs. Patients may confront difficult choices, and not sufficiently want or be able to lower these factors. “I’d rather live a day in New York than the rest of my life anywhere else,” said Barbara, the part-time professor and former smoker with Alpha. To enhance the quality of her life, she is willing to take certain risks.
Most people want some control, but in the end, feel they have to accept certain restrictions. They perceive limits to the “fairness” of the universe, though to accept these can still be hard, fueling fatalism. “I may not agree with destiny and fate,” Bonnie said, “But I have to accept it. Some things aren’t fair. I’m not powerful. I can’t change destiny. I’m not Superman.” She could potentially change some things, but not genes. “It’s the deck of cards I was given,” she sighed. “It’s not like I can just trade in the gene at any time.” This metaphor of a card game suggests both fixed rules and randomness. Bonnie is pessimistic, thinking that given “bad genes,” healthy living can accomplish only a little: “If it’s genetic, it’s going to come out.”
Others feel that they could alter potential environmental and behavioral factors, but that doing so would cause other stresses that could negate the advantages. They thus actively choose to stay in particular jobs that generate certain tensions, rather than embark on potentially disruptive change. A new position could increase stress, and hence illness. But consequently, they feel stuck. As a last resort, when they feel they can do nothing else, some turn to spirituality. A genetic diagnosis can prompt a spiritual quest that can, in turn, provide reassurance and spiritual healing. Such a journey can help in coping with both disease and other aspects of life. “When I was tested,” said Jennifer, the schoolteacher who was tested for Alpha after her son, “I entered a church: a tremendous growing experience. I used the Bernie Siegel tapes a lot—part of my spiritual journey.”
Beliefs about metaphysical connectedness can help, in part, by enhancing social support and assisting with psychological problems, such as poor self-esteem. She continued, “I can almost hear a tape: ‘You are a worthwhile person and deserve to be well.’ I began to create people around me that supported this. I now do a healing circle.” She highlights how deeply issues of deserving versus not deserving punishment and disease can run.
Some individuals feel that spirituality can potentially control even HD—that they can mold their destiny, and should eschew “negative thinking.” These views often reflect wider cultural beliefs. Sue did not have HD symptoms or testing, which helped her to think that spirituality—not genes—could play a decisive role. “If you lead your life in a spiritual way, you can have control over the situation,” she said. “But, if you chose to be in denial, or not talk about things, it could get the best of you.”
Denial versus Acceptance
Minimization and denial can also fuel and be propelled by metaphysical views, and impede pursuit of treatment. Joyce, for example, the spa employee who blamed her breast cancer on urban living, did not think that breast cancer in her maternal grandmother and aunt might increase her own likelihood of disease.
I was in incredible denial. From the time I was diagnosed, I just assumed that everything was going to be O.K. if I had breast cancer, which I refused to have. I just thought some miracle was going to happen, and I wasn’t going to have chemo or radiation. Then, when it did hit me, it hit me like a ton of bricks. I was a wreck, angry, frightened, crazed. A sibling said: it’s good you’re having aggressive treatment because of the history of our family. I was startled. I had never thought of it that way. I didn’t think my positive nodes were related to theirbrain tumor or cancer.
Even in the face of disease in the family, denial of genetic risk can exist, perpetuated by uncertainties about penetrance and predictability. Her beliefs also furthered her decision to avoid testing for a long time. New Age beliefs in the power of positive thinking can potentially impede or delay follow-up treatment in oneself and one’s family.
Individuals vary in how much they consider these ambiguities concerning causality and controllability. Some remain unsure how to answer these questions—even whether these quandaries are in fact answerable—and try to accept equanimity and the lack of answers. They acknowledge limited control and try to move on. Rhonda, the nurse who at age six had seen her mother die from breast cancer, reflected: “You don’t get an answer, but you get past it. You move on to acceptance, and do what you’ve got to do about it.” She thought that the best one can hope for is treatment, prevention, and increased awareness.
For HD, too, the intrinsic irresolvability of these questions lead many to try simply to cope as best as possible with current realities. “You have to deal with things pragmatically,” Karl concluded. “My brother has problems. How do I help now? How do I deal with this situation now?”
These views of causality can potentially affect other health behaviors, too, including testing, disclosure, and treatment. Those who viewed their illness as more environmental and less genetic were generally less likely to test.
Individuals wrestle with questions of blaming not only themselves, but their parents. Though seemingly illogical, quandaries persist of whether to blame their mutations on a parent, and whether one would be blamed by one’s offspring, or should feel guilty about possibly transmitting a mutation. Some past research suggests that patients may blame mothers for a disease.23 Yet such faulting, guilt, and fear in fact arise, too, among mothers themselves. Indeed, many parents feel responsible or fear being blamed for their children’s disease. Parents could thus face not only anger about having been given a genetic disease, but guilt over giving it to others. Isabelle, the social worker with breast cancer and a mutation but no family history who blamed her cancer on her mildewed apartment, said,
It’s a totally illogical guilt. But I have it. Logically, it’s ridiculous—most guilt is, anyway. But it’s there. I don’t think it’s that uncommon: we’re responsible for our children. My mother would feel the same way if she had this gene, knowing that I got it from her. It’s difficult to know that your children may have this gene. We pass other things on to children, but having this mutation, with a 50% chance that they may have it, is horrible.
At one point, she wished she had not had children. As we shall see, she also thought they had a 50% chance of getting cancer—a misunderstanding.
Uncertainty hovers as to how future generations will indeed view the fact that tests existed today, but were not always used. Though illogically based, the possibility that children could blame parents for having passed on the gene leads some adults to decide not to reproduce.
Parents blamed themselves for not only genetic but environmental causes of their offspring’s possible disease. Guilt can persist despite the potential ubiquity of certain environmental factors. Ginger, the medical secretary with Alpha, reported, “I worry: my husband and I both smoked when my son was young. Did that affect him?” She feels guilty about possibly having exposed her son to smoke, and feels frustrated and angry at him for exposing his own kids to it as well.
Parental guilt and responsibility can be particularly fraught for parents affected by HD, since the disease can undermine parenting. As we saw, HD can prompt emotional, physical, or other abuse. Though a genetic diagnosis can explain and make sense of these psychiatric symptoms, to know whether and how much to forgive an ill but abusive parent is difficult. Ambiguities here about the degree to which mutations alone can kindle symptoms have crucial implications. Offspring struggle with whether a mutation condones harmful behaviors; and to attribute such abuse wholly to HD is hard. Karl wants to avoid ascribing his father’s behavior solely to this disease. “People do bad things to their children for lots of reasons,” he said. “I wouldn’t attribute it to HD necessarily. A lot of people have difficult, unpredictable parents.”
Yet he has trouble sorting through these complex and conflicting issues. HD can impede parents’ ability even to discuss past egregious behavior. Symptoms can make it difficult to understand the degrees to which the abuse was controllable. Karl continued:
I finally felt strong enough to talk to my father about the sexual abuse. He said, “I don’t remember anything.” He might have been honest. Maybe he’s not ready to cave in, or he buried it. Who knows? Maybe when he abused me, he was crazy. But maybe not. Plenty of people with Huntington’s don’t have sex with their children! I was never going to get over being angry with him. Regardless of the reasons, once he died of the disease, I felt “maybe my anger is slightly misplaced.” Maybe his behavior was beyond his control. Maybe my judgment at the time was harsh. That’s difficult.
To understand and reconcile these complex issues of uncertainty, causality, anger, and mourning can be formidable. Karl struggles to figure out how incensed to be—how much his father’s possible lack of full volition reduces culpability. Karl wrestles with ambiguities concerning the extent to which genetics represents an exclusive cause versus one of several contributory factors.
The difficulty of discerning what inappropriate behaviors result from (and can thus be blamed on) HD rather than on individual free will frustrates him.
I can’t just say, “This part is from the HD, and this part is from something else.” That’s the most confusing aspect of the whole thing—the inability to separate what aspect of his behavior can be attributed to HD. There’s just no way to know.
Even this disease, with a dominant and penetrant mutation, poses ambiguities. In the absence of certitude, only time—specifically the development of other physical symptoms—may be able to resolve these questions of causality. The fact that symptoms may fluctuate makes it hard to pin behaviors wholly on the mutation.
Desires for attribution of blame can also clash with difficulties in establishing definitive causes. As Karl added: “I want him to be responsible, but I don’t think that’s fair.” Belief in even a small amount of volition—as opposed to a wholly biological cause—can impede forgiveness, relationships, reconciliation, and acceptance. “When he refused to talk to me about the sexual abuse, I stopped talking to him,” Karl said. “I didn’t even ask where his funeral was. He had left my life a long time ago.” Still, such distance can prove highly discomforting. Many eventually resign themselves to uncertainty and to tempering their anger and blame, but doing so is hard.
Some people feel uncomfortable even considering parents’ culpability for transmitting disease because of the logical absurdity involved. Charles, the accountant who still frequents smoky bars, joked about his Alpha: “I don’t blame only myself. It’s my parents’ fault, too.” He half-jests, but it is unclear to what degree; his humor reveals underlying ambivalence.
Other parents acknowledge the potential for a child to blame them for not having prevented gene transmission (e.g., by adopting, engaging in prenatal testing, or screening embryos). Yet parents and other family members may resist and feel defensive about having such responsibility. Even if illogical, stigma and guilt can hamper confrontation of the possibility of passing a mutation to future generations. As Jennifer, the schoolteacher with Alpha, reported:
My aunt said: “You didn’t get this from us!” I said, “Your mother was always short of breath!” Her sister died of emphysema. Everyone in her family had it. But she didn’t want to talk about it—she would be ashamed.
For others, blaming parents is conceptually impossible—without one’s parents, one simply wouldn’t exist. These offspring know that parents would never have desired to transmit a mutation. As Betty, the designer who totes an oxygen machine for her Alpha, said, “They wouldn’t have wished this on me, and they did enough other things right.”
These individuals struggle to understand the causes of the genetic diseases they confronted. Their previous personal and political beliefs both shaped and were shaped by views about the causes of these diseases. Prior beliefs about oneself, larger political and social issues, and psychological needs (e.g., denial or hope) can result from and lead to causal theories. These attitudes can in turn affect coping, treatment, testing, disclosure, and reproductive decisions.
Scientific explanations remain limited. Scientists may accept this constraint, and anticipate answers from further research. Yet in the absence of objective fact, many patients (and perhaps some scientists, too) turn to metaphysics and luck.
The forecasts of genetics and of Greek mythology clearly differ—genetics is based on biology, and mythology on metaphysics. But they spark similar paradoxes and problems. To the Greeks, our fate is fixed. We can rail against it, but are condemned to it. Cassandra, who foresaw the future, was ignored. Oedipus tried to escape his destiny but couldn’t. As with the Greeks, the people here commonly misinterpret, ignore, and deny information about their future, and try to avoid it. Humans often think they can dodge it, or rationalize it away.
At the same time, the prophecies of Greek mythology differ from those of modern genetics in that genetics can make certain predictions more accurately—even if not absolutely. Yet these modern predictions still contain ambiguities, and usually involve only slightly increased probabilities of certain events transpiring. Whereas Greek prophesies were linguistically murky, genetic forecasting is vague statistically. But both contain inherent uncertainties.
For millennia, philosophers have pondered conceptions of causality—how unseen forces yield observable phenomena—and tensions between free will and determinism. The men and women here reflect these underlying conflicts—the degrees to which humans are truly free agents, unrestricted by their bodies. The philosopher Daniel Dennett has explored the polarized debate between free will versus determinism, and described a third, middle path of compatibalism.24 These patients highlight similar tensions, wrestling in their everyday lives with the haziness and complexity involved. Genetics prompts these patients to try to integrate free will and determinism in varying ways—by differentiating whether, when, how, and to what degree these opposing notions interface.
People appear hard-wired to seek knowledge of the future—because it is valuable to do so, to plan appropriately for potential perils, reducing anxiety about the unknown. But prognostications are often wrong. The drive to know the future poses advantages, but disadvantages, as well. It can stimulate deep foreboding.
At the same time, these men and women suggest tendencies toward what I call “single causalism”—that an outcome results from one cause. To fathom how two or more factors interact proves difficult. People seek to assign blame and responsibility, yet to “share blame”—even to grasp what that means—is difficult. It is easier to fault a single culprit, focusing one’s anger on one target, rather than spreading it out, and having to decide how and to what relative degree to apportion it.
Yet in reality, many disease phenomena are multi-causal. Desires for simple understandings clash with more complex realities. Patients struggle to navigate these tensions. Barbara Katz Rothman and certain other scholars criticize over-attention to genetics as a cause of disease. Interestingly, the men and women here often reveal needs to find such a simple responsible force. They do not all opt for genetics. But when they don’t, they nonetheless hunt for some other single cause, and find combinations of these hard to grasp. They may bring together explanatory theories in various ways—different factors determining when versus whether a disease will occur—but in the end, tend to focus on just one. To integrate two or more explanations, each with inherent ambiguities, poses challenges concerning the borders, interactions, and boundaries of each that are exceedingly hard to untangle. How they choose evidence varies widely, due to a range of factors. Many individuals here avoid evidence, or grapple to embrace it, based in part on their prior causal views.
While scientific understandings have generally shifted from monocausality to recognition of multifactorial causes,11 patients still tend to seek single causes. In part, patients have more at stake—their very lives. Hence, these questions are not merely of intellectual interest, but have profound emotional implications as these individuals seek to exert some control, avoid helplessness, and find hope. While scholars have often argued that avoidance of fearis the central psychological state that motivates humans in confronting disease,9,25 in this case, needs for hope shape these issues as well. These men and women try to eschew not just anxiety, but also despair and depression. Testing can be beneficial as well, leading patients to feel less stigmatized, enter supportive communities, and find new sources of meaning in their lives. Particularly with genetic markers with unclear meanings, individuals may try to view the threat in ways that reduce it—by seeing it as controllable. Individuals can blame—but not change—genes, and thus look for ways of potentially improving their fate.
In deciding about the cause of complex diseases that are in fact of mixed etiology, interviewees often choose theories and narratives based on the relative strength and salience of prior personal, social, or political beliefs, and psychological needs. People tend to seek a cause—whether a person, a corporation, a god, or luck. Though some psychologists26 have argued that individuals see a disease as less preventable when its genetic source is emphasized, the individuals here look for ways that a disease may in fact still be preventable even if it is associated with genetic markers. Moreover, the degrees to which the cause is indeed seen as genetic can be fluid, and open to subjective interpretation. Though a few scholars have suggested that individuals see a genetic disease in one of three ways—as environmental, as mystical, or as a puzzle27—individuals here in fact frequently combine these and other views. They integrate elements of different theories, each explaining aspects of the disease process—for example, whether versus when versus how severely one develops a diagnosis.
Though some researchers have argued that individuals see a disease fatalistically when a test detects an uncontrollable and threatening genetic marker,9 in fact the perceived controllability and preventability of a disease are not necessarily fixed, but can be subjectively constructed. Even in the face of a genetic marker, individuals seek “wiggle room,” assessing whether, when, and how severely they may become ill. These patients seek to avoid fatalism, and to view these diseases as alterable in some ways. They display a range of attitudes and decisions as to what factors are relevant, frequently constructing their observations of their own and others’ experiences in such a way as to fit their prior beliefs about a particular factor.
Several social scientists have suggested a tension between seeing control as a source of hope versus a reason for self-blame (i.e., that individuals had failed to prevent a controllable problem).9 Yet the individuals here differentiate between these two views of control. For example, they distinguish temporally between being able to have an impact in certain ways now versus not having been able to do so in other ways in the past. Prior feelings of self-blame mold these perspectives as well. People select objective data based on subjective predilections and, at times, palpably undeniable facts. Individuals integrate these subjective versus objective inputs in part by conceptualizing different realms or functions for each set of data or beliefs (e.g., perceiving “triggers,” or differentiating between inner versus outer, or proximal versus distal effects of genes).
While a few scholars have argued that subjective representations of disease affect patients’ behaviors more than objective data28 and that if representations are invalidated, individuals change these, the men and women here illustrate the complexity of these processes. Patients struggle to construct understandings that feel satisfactory. At first they can deny evidence and maintain certain beliefs even in the face of potential counterevidence because they seek and perceive other facts as supporting their ideas. Moreover, individuals may choose not to undergo genetic testing in order to evade a sense of fatalism if they find they have a mutation. Instead, they may feel that metaphysics or environmental or behavioral factors are involved and can shape their risk of the disease, or they may blame bad luck rather than seeing themselves as somehow responsible. In this way, luck is often given agency (in other settings, it is even personified as “Lady Luck”). In order to maintain these beliefs in nongenetic factors, individuals may choose not to get tested, thus also impeding receipt of counterinformation.
Over time, people may challenge, question, revise, and adapt their causal views based on events. While prior researchers have argued that threat without control leads to stress or nontesting,9 the men and women here suggest that they also change their beliefs about their potential influence over mutations. Desires for control can affect views of reality, even if because of misunderstandings of genetics.
Illness representations may affect health behaviors, but not always,29 and this lack of correlation may be due to the intricacies of these issues involving denial, miscomprehension, and belief in luck and metaphysics.
Earlier researchers have also suggested that genetic testing may increase fatalism, though that was not found to be the case in at least one study exploring perceptions of alcoholism.9,26 But these issues may vary for every condition, based on differing patterns and views of genetics. One cannot lump all genetic diseases together. Rather, diseases with genetic markers range in penetrance, complexity, and treatability. Genetic bases for a disease may not mean more fatalism if at-risk individuals perceive control in some way.
A “genetic-risk role” emerges here that resembles the “sick role” (as described earlier, in which patients have certain rights and responsibilities),30 but with key differences. The genetic-risk role does not necessarily involve the presence of symptoms. In addition, the sick role assumes that individuals do everything they can to get better. But with a mutation, an individual may be able to do little, if anything. Individuals confronting a genetic risk may as a result look to behavioral changes, and perhaps emphasize these more. But these efforts may not in fact be effective. Nonetheless, such searches for a cause, or at least a sense of order, can abet coping.
As mentioned above, these patterns differ somewhat between these diseases. Genetic tests for breast cancer are less predictable than those for HD or Alpha. Yet with all three disorders, individuals try to wrest control from the specter of fatalism. Overall, many similar themes and issues between these diseases clearly emerge.
These men and women shed light on broader questions of what is a cause versus a contributory factor, and how we decide this. Individuals seek a cause, and do so based on combinations of perceived salience of evidence, psychological needs, and prior social and political beliefs. Unlike scientists, these patients have deeply emotional desires to escape despair and find hope, shaping these decisions. As we will see, these choices have powerful implications for many other aspects of these individuals’ lives as well.