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

CHAPTER 5

“Am I My Genes?”: Genetic Identities

“Sometimes I think of myself as healthy, but doomed,” Isabelle, the social worker, said. “Healthy, but with a curse.”

In trying to make sense of genetic risks, these individuals struggle with questions about not only the cause of their predicament, but their very identity as well. Genes may be said to “form us”—but to what degree exactly do they do so, and how? Where and how do we draw the line between the genetic and nongenetic aspects of ourselves? For millennia, these issues have plagued philosophers and theologians, but how do men and women in their daily lives make sense of these tensions?

Other kinds of disease have been found to alter patients’ self-views,1,2 but genetics can pose particular challenges. Though identity has been mentioned as a possible factor in prior discussions of genetic risk assessments,3,4many questions remain of how exactly individuals decide whether, how, and to what degree genetic risks affect their identity, and what processes and factors are involved. Gender, social class, and particular aspects of a disease can affect how patients integrate chronic diseases such as multiple sclerosis and cancer into their lives,5 renegotiate their identity, and construct their biographies.6Perceptions of illness-related stigma, in particular, can profoundly mold individuals’ self-perceptions.2 Illness identity can affect coping, views of and adherence to medication,7,8,9 attendance at follow-up appointments, and the return to work.10 Treatment can influence self-views as well. Radical surgery, for example, can alter both private and public social identities.11

Research has been divided on whether or not genetic risk information harms “self-concept” and self-views.12 Scales have purported to assess self-concept and “illness identity.”8 But disagreements in findings suggest broader questions of what exactly constitutes self-concept, how learning one’s genetic risk can affect one’s identity, what challenges individuals face, and how they deal with these. For example, studies have found that the self-concepts of individuals who are carriers, noncarriers, and at risk for a disease may all be threatened (e.g., in terms of personal, physical, genetic, social, and family identity),12 but in what ways and how remain unknown. From a theoretical perspective, concepts of genetic identity may be multilayered, and can refer to different properties of a person over time.13

Still, how individuals confronting genetic risk actually approach these issues of identity and incorporate these risks into their sense of themselves remains unclear. As a framework for conceptualizing genetic counseling, self-regulatory theory has been suggested, whereby patients actively process information. In this model, identity—impression of and experience with the illness—is one of fourteen sets of factors involved in genetic counseling.3 But broader questions arise of what factors in fact shape this “identity,” and how and why. Similarly, with familial risk perception, individuals may assess the relevance for themselves of a newly affected relative and develop a personal sense of vulnerability that affects coping and control, and further molds this relevance. But here, too, issues emerge of how individuals incorporate this personal sense of vulnerability into their identity and sense of themselves—that is, how their notions of vulnerability alter how they see themselves. A chronic disease involves a readjustment of one’s previous self-concept and a negotiation between new and old identities. However, genetic disease may entail not a “new” identity but a “revealed” underlying one (i.e., one’s genetic risk) that in fact was always present, if unknown.14 Alternatively, a genetic disease may already have caused symptoms, and thus already constitute or create a new identity.

Attention has also been given to how genetic markers may influence racial and ethnic identities. Several so-called ancestry genes have been identified, and differences have been probed between genetic and public identities.15But the precise meanings of these markers remain ambiguous. An individual can have multiple such markers, which may not coincide with his or her own view of his or her identity.16Genetic markers have been found for diseases far more than for ancestry. Hence, genetic identities related to disease can potentially shed light on how individuals try to make sense other kinds of genetic data and integrate this information into their views of themselves more broadly.

Crucial questions thus persist of how these individuals approach issues of identity, what challenges they face, and whether and how these identities might affect health decisions.

CHALLENGES IN INCORPORATING GENETIC STATUS INTO ONE’S SENSE OF SELF

The men and women here wrestle with numerous challenges concerning their views of themselves. Given the fact that genes in many ways shape who we are, people face quandaries of how, to what degree, and with what implications. Individuals see these issues highly subjectively, differing in what aspects of their condition they focus on, and how and to what degree they do so.

These issues arise with other diseases as well, but genetics poses added problems in part because one can have a mutation without symptoms, or, in the case of breast cancer, can have not only a disease that can be treated, but also a mutation, which can predispose for future symptoms.

These interviewees draw on a spectrum of genotypes and phenotypes, interpreting these in various ways. They differ in phenotypes (i.e., whether they have had symptoms, and if so, whether these were mild or severe). Yet across these spectrums, similar questions emerge in seeking to interpret and understand these states.

At one extreme, merely a family history of a disease, without any symptoms or known mutations, could shape one’s identity. Susie, who worked for an HIV organization and has an extensive family history of breast cancer, but no symptoms or mutation, said, “I think of myself now as ‘someone at risk.’ That’s how most people in my family die. That means, unscientifically, that it’s ‘in my family’, so I should pay attention to it.” Even in the absence of a mutation, risk based on family history alone can thus mold identity.

Trying to Fit into Pre-existing, Social Categories

In attempting to grasp genotypes and phenotypes and the vagaries involved, these men and women frequently look to other socially established classifications. They grapple with whether they are “predisposed,” “sick,” “diseased,” “healthy,” or “disabled,” and if so, how—that is, what these various categories mean. But these pre-existing disease-related categories often prove inadequate or problematic. With Alpha, many wonder if they even have a disease, and instead feel that they have a “condition.” Yet they then struggle to distinguish between these terms. Support groups encouraged them to avoid the label “disease” since it could carry negative connotations, but patients are often hazy about the reasons for this distinction. Charles, the accountant who hangs out in smoky bars, said,

I don’t know what the definition is, but I always think of “disease” as something you contract, not are born with. It’s the seriousness of what it is. Diseases can be self-inflicted.

He grapples with several possible distinctions here, based on the mode of transmission, severity, and patient culpability. In contrast, Gilbert distinguishes between these terms differently: “The disease is emphysema, but the condition is Alpha.”

Others feel they have a predisposition, which they then seek to differentiate from a disease. But the definition of predisposition can also be fuzzy, with varying physiological, clinical, and pathological implications. Benjamin, the engineer and former smoker, challenged this term because it is not fully predictive, and suggests a lack of control. He felt that his behavior could potentially influence his risk of Alpha.

If I create risky behavior, I’m more likely to succumb to that disease. The risky behavior is smoking. Drinking might be risky because of liver disease. Other risky behaviors might be working in a chemical factory, or with perfumes . . . Risky behavior doesn’t necessarily mean “bad” behavior. It just puts you at risk for lung or liver disease. I wish I hadn’t smoked.

He wrestles here with the meanings of predisposition, seeking a modicum of power over his fate to avoid despair. Moral issues arise, too, as he seeks to distinguish between risk factors such as smoking, which he sees as self-inflicted (and hence “blameworthy”) versus occupational exposures for Alpha (in which the patient is implicitly “innocent”). In so doing, he seeks to distinguish between two different definitions of “bad”—as morally wrong versus physically harmful. He sees himself as having predispositions, but maintaining ultimate control. He also seeks innocence, wishing that he had not smoked—because of both the health reasons and the implicit culpability (i.e., that he had therefore contributed to his own problem).

Individuals differ, too, in the degrees to which they see themselves as fitting the categories “sick” versus “healthy.” For example, despite having breast cancer and the mutation, several interviewees, including Rhonda, the nurse who had seen her mother die of the disease, still perceive themselves as healthy.

I don’t feel I’m a “sick person.” I feel I’m very healthy. I know women who say, “I have cancer.” I never thought like that. I don’t look at myself as being “sick.” I go for my check-ups but it definitely doesn’t affect my everyday life.

She implicitly adopts functional definitions of “sick” versus “healthy,” based not on whether she has a disease but on whether she feels her state affects her daily life, and hence her sense of identity.

The temporal and medical precariousness of being at risk also motivate searches for alternative terms and categories for the self. Various characteristics of specific diseases can help shape these categories. Thus, those with Alpha may think of themselves as occupying intermediary positions on a spectrum from sick to healthy—underscoring how Alpha can be more of a chronic illness. Yvonne, who had lung transplants for Alpha and now wants to move to the South, thinks of herself as ill and still “vulnerable,” but improved. “I think of myself as sick,” she said. “I’m better for now, but could crash tomorrow . . . If I have organ rejection, and we can’t get it to stop, you’re gone.” She acknowledges the precarious and ephemeral nature of these states, focusing only on the present moment. Here, too, she switches from the first person (“I”) to the more general second person (“you”), distancing herself slightly from the full threat.

Related questions arise of whether and when a mutation is “normal” versus “abnormal”—with all the possible implied moral and other implications of each term. For so-called complex genetic disorders (such as hypertension or depression), genetic predispositions may in fact be normal variants of genes. Individuals also pursue new phrases to grasp these murky, diverse states. For instance, Jennifer, the schoolteacher, described herself as “a healthy Alpha.”

I think of myself as healthy for my age and disability. That doesn’t make a whole lot of sense, but that’s how I think of it. We have a disease. But a lot of Alphas rarely present symptoms. So symptoms don’t necessarily define illness.

She still views herself as part of the disease community, but as healthy, in part because she has not yet needed portable oxygen or lung transplantation. These identities are thus not simply binary, but nuanced across gradients, with individuals at times seeking to straddle several categories that may seem, from afar, conceptually distinct.

Still, integrating the diverse characteristics involved in these predicaments poses considerable psychological challenges. As noted earlier, Isabelle, the social worker, thinks of herself as healthy for the present, but doomed. She reflected on the persistence of uncertainty over time.

I don’t think of myself as sick, or as a mutant, but as healthy, and on the edge. There is a high risk of another cancer . . . It doesn’t enter into everything I do—all of my functioning or everyday life—but just sort of hangs there. There’s probably about a 65% chance I’ll get it in my other breast. Then, I read studies that say 50%.

The fact that researchers dispute the exact probabilities exacerbates her sense of uncertainty. She struggles to find a degree of surety, seeking scientific data but seeing the ambiguity metaphysically—that she is “cursed,” though she is not entirely clear by whom, or how.

Certain individuals see themselves as “disabled” more than diseased, suggesting how functioning (what one does, or can do) also molds identity. The fact that a disease has a strong genetic basis can shape identity less than the fact that the illness results in particular functional disabilities. “‘Disabled’ is a good way of looking at it,” Jim, the physician with HD, said. “I can’t do everything. Some days . . . I’m just not going to feel up to doing anything.”

Yet meanings of “disability” vary, too. To some, it is merely a financial rather than a psychological state—an economic situation (i.e., receiving disability benefits) and not an identity per se. Benjamin, the engineer, does not work due to Alpha, and thinks of the category as merely bureaucratic more than based in reality. “I don’t think of myself as ‘disabled’—that’s a whole political game,” he said. “I think I could still now do the job I did, but I don’t know that I have the mindset.”

How much an individual fits into this category of disability can also fluctuate over time—even daily, depending on how one defines the term. Not surprisingly, many people then struggle with how to define the word, and how and when to apply it to themselves. Barbara, the part-time professor and former smoker with Alpha, mused:

I now think of myself as borderline: I can pass for not being disabled. But I do get tired and irritable, and a lot of times just don’t want to do things. People say, “Oh, let’s do something on the 26th. Are you free?” Well, maybe, maybe not. I get a lot of infections. I am less disabled than before, because I am now getting the right dose of medicine. My health has improved. I’m thinking of getting a job. But it is hard to do things. If I meet a new person, I’m cautious in telling.

Disease fluctuations over time can thus complicate identities. She suggests that degrees of disability can be impossible to predict. She is concerned, too, that other individuals may or may not agree with her own assessment—which can add stress. These questions about identity can also prompt dilemmas about disclosing one’s condition to others.

A successfully treated disease that can recur poses additional questions. With breast cancer, for example, individuals may see themselves as survivors if they have been asymptomatic for several years. But they may still face uncertainties. Even if a tumor is entirely removed, cancer can still reappear. After no longer being acutely ill, dilemmas about identity linger—how much to consider oneself to be a patient in some way, and what to do or not do as a result. Many people feel uncomfortable with the phrase “cancer survivor,” since it suggests an inherently unstable state, though the popular media and many patient advocacy groups commonly invoke the term. Mildred, in finance, said that despite breast cancer and prophylactic mastectomies,

I don’t look at myself as a breast cancer survivor: “I’m a survivor, let me proudly wear my hat and pin.” There’s nothing wrong with that . . . I do hotline work. I don’t do the Walk-a-thon, but do cancer runs—for cancer research in general, not just breast cancer. I don’t look at myself as a “gene-positive person.” I always say “I’m a BRCA1 carrier.” I would say I’m outgoing, athletic, enjoy people, and am sensitive. But I don’t describe myself as a “cancer survivor.”

In part, to do so would be painful. She suggests several alternative, competing ways she would describe herself. She prefers the term “carrier,” since it suggests a less definitive disease, and perhaps less stigma than “cancer survivor” or “gene-positive person.” She illustrates as well the multiple activities in which one can engage within the breast cancer community, all of which (as we will see later) can reflect and shape one’s sense of self. Yet she has also not disclosed her mutation to her boyfriend or brother.

Time frames concerning one’s disease and life are difficult to establish because of the unpredictability of both psychological sequelae and future events related and unrelated to the disorder. Whether the disease will return, and whether various nonspecific symptoms signal recurrence, remain unclear. The questions of when a disease “ends” depend partly on definitions of the disease and what the endpoint is considered to be. Language itself falters in providing accurate and appropriate terms for such inchoate states, involving uncertain prognoses. Yet these temporal issues (i.e., whether certain phenomena constitute a state or trait) frame questions of who one is. Karen, the lawyer with breast cancer but no testing, said,

I consider myself a “survivor,” but hate the term. It indicates that something’s done and over, and to me, it’s not. I occasionally use that word. I haven’t found a better one. When I talk about it, I have varied between saying “I had breast cancer,” or “I’ve had breast cancer,” or different things indicating that it’s ongoing. If I had to fill out a form, there’s a fifty-fifty chance I would use that term. It is not done and over, because of childbearing decisions, medical things: I have osteopoenea, I’m going through perimenopause. My right hip was troubling me: “Could this be related?”

The presence of familial or genetic risk can thus resemble a ticking time bomb, continuing, ever-present, though whether one is sick, healthy, a survivor, or none of the above can remain unclear.

Diagnosis as Part versus Whole of Oneself

Individuals have to decide not only what terms to use in describing themselves, but to what degree to do so. Genetic risk can constitute a small or large part, but generally not all, of one’s identity. People then struggle to gauge the actual extent of this identity. The relative amounts, boundaries, and relationships between this versus other parts of the self can vary widely between people, and over time for any one person.

A few individuals feel that the presence of an illness or a mutation altered their identities only minimally, if at all. Some of these men and women see themselves as being at risk, but feel that this state does not affect their core identity. “I am who I am,” said Vera, tested because she was Asian. “I had breast cancer. I beat it. I may get it again. I’ll deal with it when I get it again, if I get it again.” Despite having had breast cancer which could recur, successful treatment lowers the impact of the illness in her ongoing life. She appears driven to succeed in her career, and does not want the disease to interfere. As mentioned earlier, she also has difficulty coping with uncertainty.

Yet far more commonly, these genetic risks shape individuals’ views of themselves in important ways. “Genes make me who I am,” Bonnie, the saleswoman who had seen breast cancer in her mother and sister, sighed. Without genes, she would not exist. The fact that she is untested makes it easier for her to accept the role of genes in her life, and not feel fatalistic about that notion. At the far extreme, patients with Alpha even call themselves “Alphas.”

But she and others still seek to circumscribe the impact of genes on their lives. This restraint might be easier for individuals who have not had symptoms or mutations. Bonnie continued,

I don’t want to be identified solely as “I have relatives who had cancer,” because that’s just placing myself in one situation. There’s so much more to a person than just being a cancer survivor, or having relatives who had cancer.

The fact that she does not have symptoms or the mutation limits the role she sees genetics playing in her life. But these interviewees vary in how they conceptualize their risk—to whatever degree they feel it exists—in relation to the rest of themselves. Many see it as one part among many. “It’s a piece of who I am,” Arlene, the nurse who studied religion and had a strong family history of breast cancer, but no symptoms or testing, said about her risk of the disease. “I’m pretty diversified.”

Others try to quantify this portion more precisely, varying in the specific degree or size. Even HD, though it may seem all-encompassing, can be viewed as simply a part of one’s make-up. Roger, who tested mutation-positive for HD after he swerved his car off the road, explained,

I have a genetic link to Huntington’s, but it’s not my entire being—just one part of me. I have 150 characteristics. This is one of many. So, I’m very good about dealing with it like that. I’m obsessional, funny, nice, a hand-washer, a hoarder, a checker (I do a lot of checking).

He attempts to quantify the diagnosis informally as one of 150 features. Yet in fact, many of the other characteristics he mentions—for example, his obsessive-compulsiveness—may be manifestations of HD.

Others also seek to assess and describe the degrees to which they accept, embrace, or deny this risk. Kym, the 32-year-old South Asian physician with breast cancer in her family but no symptoms or testing, does not worry about her risk “that much”—suggesting an objective correlate: the amount of time one spends thinking about it.

THE SELF AS “MUTANT”?: NEGATIVE VERSUS POSITIVE IDENTITIES

These men and women have to decide not only whether and to what degree to incorporate their condition into their sense of themselves, but how to do so—with what moral valence (i.e., from positive to negative). They often attempt to gauge whether, and how much to view this genetic identity as negative or neutral. A few see themselves as “mutants,” “evolutionary errors,” “mistakes of nature,” or “freaks.” They feel they have a “bad gene” or “flaw,” and try to understand it, stumbling to find appropriate terms. The fact that a mutation can be viewed as tainted can impede one in constructing or embracing a genetic identity. Benjamin, the engineer and former smoker with Alpha, said,

There’s something wrong with me: I’ve got this bad gene. I don’t know how to explain that. You just feel you’re not . . . I don’t want to say you’re not perfect, but . . . there’s “an identifiable flaw” in your genome. The first thing you think about is: I’m flawed, dirty. I’ve got this weird disease, this crazy gene.

Laura, the graphic designer and environmentalist with no breast cancer symptoms but a strong family history, seeks metaphors to conceptualize this gene, and remains unsure:

There’s something wrong with me that’s not even physical . . . the blueprints of my body don’t work well. The computer that determines the functions of my body, the central processing unit, doesn’t work right. At any time, something can go wrong. It’s like I’m walking with one leg. I don’t have the checks and balances most people have.

She draws on metaphors from different fields: architecture (blueprints), information technology (computers), medicine (physical handicap), and politics (checks and balances). She and others grope for concrete mechanisms to understand and explain these genetic problems.

Many try to resist potentially negative connotations. Benjamin, the engineer, cited the theory of evolution and said that he did not mind being a “mutant” because scientifically, mutations are ubiquitous and thus normal.

I don’t call it a “disease,” because it would then be worse for me. It’s a genetic condition, a mutation. I don’t have any qualms with the word “mutation.” A lot of people do, but I don’t. I believe in evolution: We’re all mutants. Mutation is the way things change.

He sees his very existence as dependant on such genetic errors. Trained in science, he accepts the harsh realities of the disease more than most people, yet at times also wavers, trying to make sense of it. He struggles to balance the fact that epidemiologically, he is one of relatively few individuals in the population as a whole who have been diagnosed with a potentially fatal disease for which a mutation has been identified. He faces a more severe genetic problem than most people, though some others are sicker than he. He feels he has also been lucky, having only relatively mild symptoms.

They claim that everybody has something, but that’s just bullshit. One scientist says everybody has four or five flaws that might in the end kill them. But that doesn’t really mean that everyone has something.

FACTORS INVOLVED

Several factors can clearly shape these views—for example, scientific education and genetic states, alternative ways one defines oneself, and degrees to which one does so. Roberta, the African American former nursing student with breast cancer but no testing, who blames her family’s cancer on Louisiana water pollutants, described her identities: “Who am I? I’m a grandmother, a woman, a mother, and a human being. I’m pretty intelligent, because I’m always looking for new information. That’s basically who I am.”

She also sees her illness as reflecting social, more than individual, medical problems, and ascribes her breast cancer to environmental factors—for example, industrial pollution. The fact that she has not been tested helps decrease the impact of the disease on her sense of self, which in turn makes her less inclined to undergo testing. In addition, the mutations for breast cancer, compared to those for HD or Alpha, are less predictive of disease, allowing more leeway in beliefs about the degrees to which genetics (versus other factors) shape oneself and thus one’s identity.

A mutation can also reinforce prior social identities as a member of a group that a disease commonly affects. Those with breast cancer symptoms or mutations, for example, may attribute the illness partly to being a woman. “Having this gene makes me feel more female,” Laura said. “Women have to deal with special things, having this biological clock, bleeding every month, menopause. It’s not a self-pity thing, but an added female thing.”

Past traumatic personal experiences can affect these issues as well. A few individuals had particular past psychic trauma (e.g., mental illness), and now see themselves negatively as “mutant.” Laura saw herself in this way due to having BRCA1/2 and a history of depression and suicidal tendencies. “When I was 14, I ‘cut’ myself once,” she said. “Sometimes I wonder whether I should even have been born. If I weren’t here, there would be no difference.” The fact that she now knows that she has a genetic mutation confirms her sense that there is something intrinsically wrong with her.

Improved treatment and symptoms can facilitate adaptation to a disease, particularly a chronic one, altering attitudes. Benjamin, the engineer and former smoker, said about his Alpha, “What helped me change was just living with it. I didn’t have this big flashing light or something.” Yet even with effective treatment, ambiguities persist. With Alpha, questions arise of whether, despite getting a lung transplant, one continues to possess the disease. As Yvonne, who had lung transplants, said, “I’ve still got Alpha.” She thus wants to move to the South to abet her health.

The degree to which a patient’s symptoms are localized to a particular organ or body part can also mold the impact of illness on a patient’s sense of self. Patients may try to circumscribe the illness to only a specific, diseased part of the body, seeing the condition as involving that part alone. With disease only in her lungs, Dorothy, the TV producer who carries metal oxygen canisters while awaiting lung transplants, said, “If I didn’t have these two lungs, I’d think of myself as healthy.”

Views of identity can also depend on who one is with at the time; other people can either support or challenge one’s own self-perception. At times, one’s own and others’ perspectives on oneself can coincide. As Betty, the designer who carries an oxygen concentrator, said about her Alpha,

Whether it is part of my identity now depends on the crowd I’m in. When I’m in an Alpha group: I’m one of you. It’s part of me, a description of me, like having brown hair, or being this size, or whatever I am. But it’s not a total focus.

Depending on social context, disease can constitute part, though not necessarily all, of one’s identity. However, outsiders may identify a person as having a disease, while the individual resists it. Patients may welcome or fight an identity as “ill” in others’ eyes. Entering and exiting the sick role can thus be contested, and negotiated.

An individual may define him or herself in genetic terms, depending on temporal factors as well—doing so only when the topic comes up. Harriet, an African American schoolteacher with an inconclusive genetic test for breast cancer and no symptoms, said, “In terms of who I am: I just say I had a history of cancer in my family. But it was not there every day—just when we’re having the discussion.” She frames her identity in familial, rather than personal ways (having had the disease in her family).

Yet over time, both community involvements and identities can mold each other. Karen, the lesbian lawyer, said about her breast cancer,

In the group, we talk about: once you’ve been diagnosed, you cross a line . . . once you’ve had metastatic disease, you cross a different line. Part of my struggle is accepting that—not fighting to get back over to the other side.

In part as a result, she decided not to test. Yet seeing oneself as being at risk or having a disease can affect whether and to what degree one even enters a disease community in the first place. Similarly, the degree to which one confronts versus minimizes or denies one’s risk can influence one’s readiness or resistance to pursue testing or treatment.

IMPLICATIONS

As suggested earlier, these issues of identities can shape disclosure decisions, testing, treatment, and coping. For example, individuals’ sense of their genetic identity can shape decisions of whether, when, and to what degree to tell others about it. “Do I tell people that I have a disease?” Barbara, the part-time professor, wondered about her Alpha, “Should I go on job interviews? Do I tell them I’m disabled? Are they hiring a disabled person, or an able? They get some perks for hiring disabled people.”

Whether one is specifically asked about oneself, and by whom, can affect how one then presents and sees oneself in that context. Genetic risk or disease can mold one’s private (but not necessarily one’s wider) social identity. “I am a person at risk,” said Kym, the South Asian physician. “But if someone outside were to say, ‘Tell me about yourself,’ that’s not what would come to my mind.” Since she is asymptomatic and untested, genetic risk may affect her less than those who have symptoms, ongoing treatment, or mutations. These individuals tend to distinguish between the public versus more private aspects of themselves.

CONCLUSIONS

These men and women face challenges in trying to incorporate genetic information into their lives and construct a sense of identity. They wrestle with these issues in ways that are not straightforward, but involve subjective interpretations and choices concerning categories related to genetics and disease states more generally. They seek and define these categories and terms in widely differing ways.

Issues of identity arise with other diseases as well, but can do so in unique ways concerning genetics. In many regards, genes constitute the self, and can shape one’s future. Yet individuals, especially if asymptomatic, encounter challenges in gauging the extent of this predictiveness—grasping the meanings of being at risk, or having a mutation. These issues of identity in turn pose challenges for coping—how to overcome a sense of fatalism and hopelessness, given possibly deleterious genes.

Individuals who feel that their particular state of risk or illness does not fit into existing socially established categories (e.g., “predisposition,” “sick,” or “healthy”) then try to make sense of their genetic states and decide whether they conform to a pre-existing label in any way, and if so, how and to what degree. They draw on their prior understandings of themselves and try to squeeze their genetic state into their ongoing lives, seeking narrative coherence. Whether and how they do so varies, shaped by several factors.

Though the “sick role” involves certain rights and responsibilities (e.g., to do everything possible to get better),17 genetics can present particular challenges, involving more inchoate states. Dilemmas arise for a mutation that has not yet produced symptoms, or has been treated but may recur.

The category of being at genetic risk for a disease but being asymptomatic poses particular problems. With these disorders, identities are based on seemingly objective data that in fact vary widely, falling across a spectrum based not only on symptoms but a range of genotypes, phenotypes, and testing states. The objective correlates on which subjective identities may be based can be more fluid for genetics than for other kinds of diagnoses. Hence, while David Armstrong14 suggested that genetic identities involve adjusting to revealed aspects of one’s self, the men and women here highlight many other complexities involved—multiple processes and factors, and a range of genotypes and phenotypes that individuals interpret and apply to themselves in different ways over time. Individuals vary in what aspects of a genetic marker they focus on and how—for instance, as meaning that they are a “mutant” or not. These individuals highlight how notions of both genetic identity and illness identity are multifaceted and highly complex.

How these individuals integrate genetic information into their identities can shape decisions about testing, treatment, and disclosures of risk to family members and others. Yet these implications of genetic identities have received little attention. It is not clear, for instance, how often individuals see themselves negatively due to having a particular genetic marker, and the degree to which individuals who do so may be less likely to disclose their test results to at-risk family members who might then in turn get tested.

Between these diseases similarities and differences emerge, though overall, the similarities in themes and challenges outweigh the differences. Still, many who have a family history of breast cancer but have neither undergone genetic testing or displayed symptoms often see these states as constituting their identities less than do those similarly at risk (without symptoms or mutation) of HD or Alpha. The latter two disorders are more penetrant, and HD is untreatable and invariably fatal.

These findings shed important light, too, on possible future uses and implications of other genetic tests—including, potentially, markers associated with ancestry and various behavioral traits. Individuals may similarly interpret such genetic information in widely differing ways, relying on pre-existing personal and cultural narratives. Individuals may vary widely in what aspects of such information they focus on, and how and to what degree they do so, reflecting uncertainties of how and to what extent one is in fact shaped by genetic versus other factors. Even decisions of which objective elements to focus on are in the end subjective. Genetic information can disrupt prior narratives, depending in part on the strength of the narrative and the perceived penetrance, predictiveness, lethality, and severity of the genetic marker. These interviewees suggest how the complexities involved in genetics can potentially mold—and be molded by—our deepest notions of ourselves.