We asked study participants directly about their beliefs about genetics and their perceptions of the potential benefits and harms of genetic testing. In their answers to these questions, which we describe below, two additional themes emerged. First, for people in families affected by a potentially heritable illness, genetic information may be inextricably bound up with decisions about reproduction. Second, and related, for people living with epilepsy, part of what is at stake in the increasing availability of genetic information is the ontology of the disease itself, that is, what epilepsy is and how one may live with it.
Beliefs about Genetics
There were two direct questions in the interview that inquired about beliefs about epilepsy, genetics, and heredity. First, respondents were asked whether they think that “epilepsy is something that can be handed down from parents to children.” Second, they were asked whether they think that epilepsy is something that “runs in your family.” In addition to their responses to these questions, respondents mentioned genetics and heredity in their responses to broader questions about their beliefs about the causes of epilepsy and their experiences of living with epilepsy or being the family member of someone with epilepsy.
A majority of the respondents report believing that epilepsy is genetic and inherited. As this respondent commented, “It’s in my family. It’s hereditary. My father had it, his father had it, and it’s in my family…” (Interview 17). Related to this, respondents report believing that having a family member with epilepsy increases the likelihood of having epilepsy. The belief that epilepsy runs in the family may exist even when people with epilepsy have been told by their doctors that there is no genetic component to the condition, as in the case of this respondent who commented “I grew up with the doctor telling me that it isn’t genetic, but I believe that it is, that it is something inherent that got triggered somehow” (Interview 34). Both people with epilepsy and their family members report worrying about whether their children will have seizures. People with epilepsy report being “devastated” and “guilty” when their children were diagnosed with epilepsy (Interview 38). However, some respondents commented also that having had epilepsy makes them especially aware of and sensitive to the needs of a child with epilepsy. Only a few unaffected family members reported that they worry that they may have seizures in the future.
People in families affected with epilepsy often have detailed knowledge about each other’s seizure experiences (e.g., age of onset, types of auras preceding seizures) and they use this knowledge in formulating their perceptions of risk for themselves and their children. This dynamic is especially vivid in families where multiple family members began to have seizures at approximately the same age. For example, one respondent reported that when his son approached the age of 10 – the age at which the respondent, his brother, and his father all began having seizures – he began to watch his son “vigilantly” for any sign of seizure activity (Interview 13). People also use their observations of their family members to predict whether and when their seizures may lessen or cease, as reflected in this comment “My father’s seizures stopped when he was 30, so I figured maybe mine would stop when I was 30….” (Interview 17). Similarly, respondents watch their families for clues about how the condition may have been inherited, as this respondent reported:
My parents divorced and my dad got remarried. So we’re kind of curious, you know, if [our half sibling] end[s] up with seizures. You know, we hope she doesn’t…also-if she doesn’t, does that mean like it was what we got from my mother, because [we] don’t share the same mother with our little sister. So, you know, if she has seizures, then [we’d] probably be pretty sure that it was something we got from my dad (Interview 21).
The respondents in the 2005–2006 interviews are clearly not representative of all people with epilepsy; they are unusual in two important respects. First, they come from families in which multiple individuals are affected, whereas most people with epilepsy have no affected relatives. Second, they have made the decision to participate in genetic research, which may reflect an unusual interest in, and possibly understanding of, the genetic influences on epilepsy. However, we note that even in this sample, arguably inclusive of people most well informed about contemporary epilepsy genetics research, respondents have their own understandings of what exactly “heredity” or “genetics” means. That is, in contrast to formal scientific understandings of genetics and heredity, subjects hold “personal theories of inheritance” (McAllister 2003
), which emphasize their perceptions of commonalities among family members, what Lock and colleagues (2006)
call theories of “blended inheritance”. For example, when asked about her thoughts regarding the possibility that her children might develop epilepsy, one respondent said that her older son is just like her husband (who does not have epilepsy), “blond haired, blue eyed, and sweet” while the younger boy is just like her, “red haired and energetic…just like a Kennedy…he has our genes” (Interview 31). Therefore, because it is her family that is affected by epilepsy, it is the younger, redheaded son about whom she is worried. Similarly, speaking of her grandchildren, Victoria – whose daughter Anne has epilepsy and is the mother of two sons --commented that one of her grandsons “looks just like a Dixon, just like his grandpa Jack.” Jack, Victoria’s husband, has epilepsy and she believes that Jack “gave it” to their daughter, Anne. Because Jack and Anne “look like Dixons” and both have epilepsy, Victoria suspects that the grandson who “looks like a Dixon” is more at risk (Interview 15).
In summary, genetics is increasingly a part of the experience and self-understandings of many people with epilepsy and their family members. However, genetics does not dominate people’s understandings of epilepsy, even for individuals who believe that epilepsy runs in their family. Rather, genetic information is imbricated with people’s beliefs and ideas about their lives, their families, and their hopes for the future.
Perceptions of Genetic Testing
Respondents were asked directly about their perceptions of genetic testing. The stem for this set of questions was “As you may know, scientists have identified genes which help to cause some forms of epilepsy in some people” People with epilepsy then were asked “If a blood test was available that could tell you if you have one of these genes, would you want to take that test?” The family members of people with epilepsy were asked both “If a blood test was available that could tell your family member that he or she has one of these genes, would you want him/her to take that test?” and “If a blood test was available that could tell you if you have one of these genes, would you want to take that test?” Follow up questions probed for the reasons for the answers given to these questions. Both sets of respondents were asked how genetic testing could be helpful and/or harmful to people with epilepsy or their family members. Research indicates that reported hypothetical interest in genetic testing only modestly predicts the choices individuals eventually make (Sanderson et al., 2010
). However, respondents’ assessments of the possible risks, benefits, and implications of genetic testing reveal key aspects of what is at stake in genetic testing from their perspectives.
Only three people with epilepsy said that they certainly would not participate in genetic testing were it offered to them. Of these three, only one person with epilepsy indicated that she would not want to take a genetic test under any circumstances. The two other respondents with epilepsy stated specifically that they would undergo testing only as part of scientific research but would not do so for their own “personal knowledge.” As one person with epilepsy put it, genetic information was not personally compelling to him “Because it’s something that I’m not going to change. It was something I was born with and I can’t change it” (Interview 12). The family members of people with epilepsy also tended to have a positive orientation to genetic testing, with only three respondents stating that they would not want to be tested.
Some participants indicated that they believed that as participants in the EFSCU, they already had undergone genetic testing. Although molecular genetic analysis was carried out in the study, the EFSCU consent form clearly stated that it was for research purposes only, that the study did not involve clinical genetic testing, and that participation would not allow participants to learn whether or not they carried a gene that raised risk. Such comments point to the complexity of distinguishing between molecular analyses conducted as part of scientific research and clinical genetic testing (Timmermans and Buchbinder 2010
Perceived Potential Benefits
Respondents identified several ways that genetic information would be beneficial to themselves and their family members. These included knowing why they have epilepsy, being able to better care and advocate for children at risk for developing epilepsy, being able to better anticipate seizure onset. Additionally, unaffected family members reported that a negative test would reduce their anxiety. Study participants also expressed enthusiasm for the potential of genetic information to improve the lives of people with epilepsy more broadly, by leading to new options for treatment or a “cure” and raising public awareness and understanding of the condition.
Generally, people with epilepsy expressed belief in the power of knowledge itself as “the most powerful tool” for facing epilepsy, especially insofar as it increases people’s sense of control over their own lives and ability to care for their children (Interview 38). Respondents noted the possibility that genetic testing might help to identify the causes of epilepsy, in themselves and their family, thereby reducing uncertainty and self-blame and answering questions such as: “Why did I get it and not Bill Smith down the street or something?” (Interview 1). Another respondent commented that he would get some “ease” from knowing that “I didn’t do anything to get it” and having an “answer” to the puzzle of “our family history” (Interview 17).
Even absent of methods to reduce the risk of seizures, participants in this study suggested that genetic information might help parents – and doctors – quickly and correctly identify seizure disorders in at risk children. Likewise, respondents believe that having genetic information would enhance the ability of parents to advocate for their children in health care settings:
I think you might pay more attention and be quicker. If your kid started to have a seizure, you’d have a lot more information immediately. You know, you would skip the preliminaries and go right to an EEG…. If I knew that I was a carrier and my child had a situation that looked to me that it might be related to epilepsy, having a brain event, I’d be much more aggressive and much faster at the hospital to pursue care in a very particular way (Interview 34).
For people at risk for types of epilepsy that are characterized by an “aura” preceding convulsion, genetic information might improve their ability to watch for signs of seizure onset and thereby take steps to ensure their own safety before seizing:
For those who were positive they could then become better informed so that with this form of epilepsy that tends to have some sort of auditory aura that our family is experiencing they could be more aware of those advanced signs and be prepared to take action to be in a safe position or safe place. If they are driving, stop the car, pull the shoulder or something for their own personal safety. If they have any anticipation that they might be at risk and experiencing the signs that go along with this unique form of epilepsy (Interview 39).
Lastly, people who perceive themselves to be at risk, by virtue of their family history, might be relieved of decades of concern:
Well, for those who would test negative, it would give them a sense of relief and assurance that they weren’t at risk for experiencing this form of epilepsy (Interview 29).
The possibility that genetic testing would lead to better treatments, and possibly even a “cure” (Interview 22) for epilepsy, was identified repeatedly by participants as a potential benefit of genetic testing. Respondents believe generally that “the first step to finding a cure is to identify a cause” (Interview 15) and that genetic research is a “stepping stone towards treatment” (Interview 20). Indeed, even respondents who noted that they did not see genetic testing as relevant to their own lives expressed a willingness to be tested if this would contribute to efforts to help other people, and especially “future generations” with epilepsy:
It may not be for myself or my family, but it might help somebody else in the future down the road, you know, in my family. (Interview 9)
Perceived Potential Harms
Respondents also identified a number of ways in which genetic testing could harm people with epilepsy. One set of concerns centered on the potential of genetic testing to be used to stigmatize and/or discriminate against people with epilepsy and their children: “genetic testing can be abused like any private medical information can be abused” (Interview 28). Respondents were especially concerned that genetic information might be used by insurance companies to categorize epilepsy as a “pre-existing condition” even for people who have not yet had a seizure (Interview 30). They also noted the possibility of abuse of genetic information by employers making hiring decisions (Interview 36) and health and life insurance companies making policy decisions (Interview 29). Both people with epilepsy and their family members stated that they would not undergo genetic testing unless they were convinced that it would not threaten health insurance eligibility or coverage for themselves or their children. Respondents also reported that it would be critical that the test be safe and affordable.
Several respondents also expressed fears that genetic testing would lead to attempts to “eliminate people” who have epilepsy “in utero,” or to discourage people with epilepsy from having children. The history of eugenics figured prominently in how people expressed these concerns. One respondent commented that genetic testing, and especially prenatal genetic testing, “conjures in my mind this whole deal about the Hitler era and the Aryan race” (Interview 13). In another reference to the atrocities of the Nazi era, a respondent stated, “I’m not going to, you know, jump into an oven, so I can purify the race” (Interview 10). Another respondent expressed concern about “researchers” taking the information “out of context” and “playing God” with it (Interview 6). As we discuss in detail below, respondents also expressed concern about how genetic information would affect how people with epilepsy make decisions about reproduction.
A third broad set of concerns about potential harms centered on whether genetic information might lead people with epilepsy, or with a genetic predisposition for epilepsy, either to “feel damned or condemned” (Interview 32) or to “limit themselves”(Interview 27), “feel pitiable” (Interview 23), “make them afraid to live” (Interview 7), or “use the genes as an excuse” not to reach their potential (Interview 19). One respondent raised the possibility that given the stigma associated with epilepsy, someone might be so upset to learn that he carries a gene for epilepsy that he might decide to “end it all, 29th floor…” (Interview 13). Respondents thought that people at risk might be “better off not knowing,” especially if knowing that they are at risk makes them “afraid of doing something” in their lives (Interview 26). A parent of two children with epilepsy commented that “if you’re sitting around and waiting for epilepsy to come knocking then…maybe you would not live your life quite the right way” (Interview 31). Respondents also expressed a somewhat different concern that genetic information might be used by people with epilepsy to justify behavior, like alcohol consumption, that may trigger a seizure:
What good is it for a person like that who has no control over her own life just to be able to say, well, it’s not my fault, it’s my mother’s fault (Interview 11).
These comments highlight the salience of concepts such as “responsibility” and “control” in the lives of people with epilepsy. Participants in this study often provided us with detailed accounts of the medications that they take, behaviors that they prioritize (e.g., getting enough rest), and “triggers” that they avoid (e.g., alcohol, exhaustion) in an effort to control their seizures. Research suggests also that parents may limit the activities of children with epilepsy, in order to avoid possible harms to a child at risk of seizure (Williams et al., 2003
). These comments thus highlight a set of concerns that are likely to be of particular import to people affected by epilepsy.
Another set of potential harms concerns the experience of parents with epilepsy who may have transmitted to their children a genetic susceptibility to epilepsy. People with epilepsy reported that they expected that they would experience significant guilt if genetic testing confirmed that they had passed on to their children a genetic susceptibility to epilepsy:
I would probably feel really guilty. Even though it wasn’t my fault and all that. I would feel guilty for you know, possibly putting that… health issue at their feet. Not that I probably would have stopped having children (Interview 6).
Another reported concern was that the parents of children with epilepsy would be “blamed” by others for giving it to their children (Interview 21); however, at the same time, a participant noted that parents are not blamed for giving their children other conditions:
There might be a stigma attached to something you’re carrying around…I don’t know. I just think people are more tolerant of that kind of thing now. We have a neighbor whose son has diabetes and has had since he was a little kid. Nobody thinks, “Well, they gave that to him” (Interview 40).
Indeed, decision making about reproduction and child bearing was among the most frequent concerns raised by participants in this research.
Genetics and Reproductive Decision Making
Although we did not ask participants directly about their beliefs about the appropriate uses of genetic information in decision-making about reproduction and child bearing, this emerged as a strong theme in the interviews. While respondents expressed concerns about eugenics, as described above, they also framed genetic information as something that could help people with epilepsy and their family members make “informed” and “responsible” decisions about reproduction. However, the meaning of “responsible action” varied among study participants.
Some respondents suggested that if they or their family members knew that they carried a gene associated with epilepsy, they might choose not to have biological children. Speaking for herself, one woman with epilepsy commented that being told she carries a gene for epilepsy “would really strongly influence me towards adopting” (Interview 23). Adoption was also raised by a family member, who commented that genetic information could help people with epilepsy decide
whether they really want to have children or whether they want to go ahead and adopt children so that you know, if it does go from generation to generation you know we’ll just stop it here. And that way any future generations won’t have to worry about it (Interview 2).
Approximately 50% of the participants in this study are 50 or older (with an average age of 48), and more than 80% already have had at least one child. As such, many of their comments about the implications of genetic information for their own reproductive decision making were retrospective. Looking back, respondents speculated that if they had access to genetic information when they were of childbearing age, and were told that they carried a gene for epilepsy, they may have chosen not to have children.
I would have taken it, if I would have heard about it in my 20’s, I would have wanted to take it. And if it did come back positive it would have influenced me whether or not I would have kids, probably to not have children at that time. I remember how I thought about it then. I would have wanted to take the test then. And if it came back positive, I wouldn’t have wanted to have children (Interview 28).
These speculations are clearly influenced by respondents’ experiences of having children with epilepsy, as evident in the comments of this mother:
Epilepsy…sure can make your life hell. In retrospect, if I were going to have children now and if I would know that there’s a way to tell whether or not you’re going to have children that have epilepsy by some kind of study, I’d want to know. If I could do some gene selection because knowing what I know now… I mean, we had a pretty rough go of it (Interview 31).
Because women’s reflections on choices made many years ago have been shaped by events following their decisions – which can include the complexities of managing a child’s medical treatment, witnessing a child’s experiences of stigma, and the effects of epilepsy on family relationships – these retrospective comments are not likely to be accurate predictors of the reproductive decision-making processes of women with epilepsy. However, they do highlight an area of concern.
Additionally, many respondents stated clearly that they feared that genetic information would be used to dissuade women with epilepsy from having children or to terminate a pregnancy if they found out that their child would have epilepsy. In most cases, respondents identified these possibilities in response to questions about the “potential harm” of genetic testing:
I think that if people knew that they could pass it on, they may be less willing to have [children], they may be more scared to have children. I think that that can be harmful (Interview 16).
Well, it might discourage them from child-bearing, or you know, having children and it might not even be a problem…. It could maybe alarm you when you didn’t need to be alarmed. (Interview 39)
Respondents were particularly uncomfortable with the possibility of prenatal genetic testing for epilepsy, often stating directly that they do not see epilepsy as a “reason to terminate a pregnancy” (Interview 6) and “if they’re going to actually abort kids because they have that gene, that’s wrong” (Interview 22).
At the same time, there were women in this study who had chosen not to have biological offspring based on their family’s history of epilepsy. This respondent recounted telling her husband that given the prevalence of epilepsy in her family
‘I think we should not procreate.’ I do. I mean I think that-I think that there’s so many kids out there that need to be adopted and need good families…and it [epilepsy] is a lot of work and [there’s] …a lot of stigma to work against… (Interview 32)
Another respondent said “If I knew there wasn’t a gene I could pass on, I’d have more [children] of my own” (Interview 36). For this subset of women (some of whom did not have epilepsy themselves), being able to obtain accurate information about epilepsy genetics and risk to offspring – whether through genetic testing or through genetic counseling (Helbig et al., 2010
) - might increase their sense of their reproductive options.
A big part of what is at stake in reproductive decision making is our understanding of epilepsy itself, as this respondent stated clearly:
I think where I have mixed emotions is if some mom wants to go in and they do an amniocentesis and they check it for that gene… And you know, I understand how parents would want to know in advance whether or not their child would be born with defects and so forth. I just don’t think epilepsy is a defect (Interview 13, emphasis added).
Similarly, a participant asked rhetorically, “I mean is that the worse thing that can happen to your kid, being an epileptic?” (Interview 24). Indeed, respondents comments highlight concerns about how genetic information will shape understandings of what epilepsy is and what it means to live with this complex condition.
What Epilepsy Is
Respondents told us directly that they were concerned about how genetic information would interact with “the perception of what epilepsy is” (Interview 13). Their comments highlight how the biological and social specificities of epilepsy may shape what is at stake in the advent of genetic testing for a complex, clinically heterogeneous, and stigmatized condition.
Respondents position the clinical heterogeneity and genetic complexity of epilepsy as reasons for caution in interpreting and making decisions based on genetic information. Especially in their comments about reproductive decision-making, respondents noted the importance of understanding that there are “different degrees or different forms” of epilepsy (Interview 3) and significant variability in epilepsy symptoms, including responses to medication; for example, approximately 60% percent of people with epilepsy can be expected to enter long-term remission upon initiation of treatment, and of those, about 50% will be able to withdraw from medications and remain seizure-free (Kwan & Sander, 2004
). As this respondent emphasized:
I would counsel them to not avoid having children. …This is a very controllable epilepsy. It’s not a handicapping type disease process…there is a risk, but I wouldn’t change any life decision based on what we know of this form of epilepsy. There are other genetic diseases where the answer would be different. But just because it’s a genetic disease I wouldn’t…suggest that it was an alarming problem. [It’s] a manageable one… (Interview 29, emphasis added)
Related to this, respondents argued that “something in your blood” is not a good measure of what will happen since “there are so many degrees of the illness… [and] there are ways of controlling epilepsy…” (Interview 18). Another respondent stated repeatedly “you can live with epilepsy” (Interview 37). Respondents asserted also that genetic testing is an unreliable basis for reproductive decision making for conditions like epilepsy since “there is only the chance, just because you have the gene, doesn’t mean you’re going to have it” (Interview 6). For example, a respondent noted that because of the complexity of epilepsy genetics, interpreting prenatal genetic testing is especially problematic:
I mean I’m not anti-abortion in the least, but I think it’s a slippery slope of okay, you know, this child-we can tell this fetus has extreme epilepsy…it’s got all of these gene(s). But…this fetus may have slight epilepsy. And where’s the decision where you abort and whether you’ll make those decisions. (Interview 23).
These comments point to concern that genetic testing information might make epilepsy seem more dreadful, less varied, and more genetically determined than it is, thereby constraining appropriately nuanced understandings of the condition among those affected by it.
Conversely, there was a strong sense among respondents that research on epilepsy genetics might improve the lives of people with epilepsy by making it a more well understood and less “scary” condition. Respondents suggested that genetics research might offer a particularly powerful means of increasing public understanding of epilepsy (Interview 32), dispelling myths about seizures (Interview 11), and making it more comfortable for people with epilepsy to disclose their condition to others:
Because then… you take away an element of fear from it. It’s not such an unknown. It’s not such a scary thing. It’s genetic. There’s an answer to it....and so if you have this huge press release of genetic testing in relation to epilepsy all of this and people are talking about epilepsy, and just that conversation can just having in the mainstream media is going to be so helpful alleviating people’s fear and unknown…I would probably feel much more comfortable telling people, because it wouldn’t be an unknown (Interview 16).
In these remarks, people with epilepsy suggest that because the public understands so little about epilepsy, genetic information provides an opportunity for positively transforming public understandings of what epilepsy is.
Despite the difference in emphasis across these two sets of comments, they express a shared belief that part of what is at stake in epilepsy genetics is how the condition itself is understood
. Taken together, they suggest that understanding the implications of genetic information requires close attention to the biological and social particularities of a condition. Moreover, they highlight the importance of considering how genetic information can be used to either reify or dismantle the labels and stereotypes (Link & Phelan, 2001
) associated with stigmatized illnesses.