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Normalising life at risk of Huntington’s disease. A qualitative study of backgrounds and coping strategies of fears of genetic discrimination

Abstract

Studies in the sociology of genetics have shown how living with a predisposition to a genetic disorder often comes with significant psycho-social burdens and struggles. One of these struggles is the fear of genetic discrimination. Despite genetic non-discrimination regulations, research shows people still worry about being subjected to genetic discrimination. This article adds to this existing body of literature by showing why people still worry about genetic discrimination and how they cope with these worries. Our findings derive from an analysis of semi-structured, in-depth interviews with individuals at risk for Huntington’s disease (HD) in Belgium. Concerns of genetic discrimination are grounded in the participants’ family backgrounds. Our participants, having witnessed numerous events in which symptomatic relatives suffered discrimination and stigmatisation, expressed heightened fears of facing genetic discrimination. Further, this article provides insight into the strategies participants use to cope with these fears. Two ways of normalising life were identified—while some persist in keeping their genetic risk a secret, other participants explicitly choose to be transparent about their genetic risk, desiring a level of openness. However, while they want to ‘break’ with their family background, participants who choose to be open are still held back by their worries about genetic discrimination by organisational actors. ‘Normalising genetics’ appears to be particularly challenging considering the remaining stereotypes and stigma surrounding genetic diseases.

Introduction

‘I wanted to explore the meanings of secrecy and silence within our family, the ways in which what could not be said reverberated as loudly as the words that were spoken. Feelings cannot be buried as easily as facts. Denial creates its own emotional force fields, even if the relevant information remains hidden. Secrets, moreover, especially so dramatic a secret as Huntington’s, may form part of a family’s emotional inheritance, a psychological legacy handed down along with the family Bible, affecting every aspect of family life for generations.’ —Wexler (1995, xvii)

This extract is from a renowned autobiographical book written by Alice Wexler [1]. In her book, Wexler tells the story of her family’s experience with what was, at that point, an unknown disease: Huntington’s disease (HD). HD is a severe monogenic, neurodegenerative genetic disorder [2]. A mutation carrier’s functions will, on average, get affected between the age of 30 and 50 [3]. The symptoms of HD, as well as the age of onset, can vary significantly between different mutation carriers; however, in general, individuals with HD exhibit motor, cognitive, and psychiatric symptoms [2]. A diagnosis of, or a positive genetic test for, HD is particularly distressing since neither preventive nor curative options are currently available. The pattern of inheritance of HD is autosomal dominant, meaning children of a mutation carrier have a one in two chance of also being a mutation carrier. Once they reach the age of 18, predictive genetic testing is available for individuals with a family history of HD.

The body of sociological literature on genetics has revealed how living with a predisposition to a genetic disorder can impact the psycho-social wellbeing of individuals, as well as of families [4,5,6,7,8,9]. One particular concern that has been raised in the literature is the issue of ‘genetic discrimination’. Genetic discrimination is most often defined as, ‘discrimination directed against an individual or a family based solely on an apparent or perceived variation of the “normal” human genotype’ [10, 11]. In this definition genetic discrimination can only affect asymptomatic individuals. If one is symptomatic and discriminated it is considered to be discrimination on the basis of disease or disability. This distinction is, however, criticised. Plümecke’s [12] research on genetic discrimination in Germany shows how individuals do not have to be ‘without symptoms’ or asymptomatic to suffer from genetic discrimination. Symptomatic participants in his study shared instances of discrimination and stigmatisation connected to genetic aspects of their condition. Plümecke concludes that the reported discrimination of symptomatic participants was not exclusively based on their exhibited symptoms, but also on the interpretation of their personal genetic information.

A large-scale research project by the I-RESPOND-HD Investigators of the Huntington Study Group in the USA, Canada, and Australia asked survey respondents at risk for HD to define ‘genetic stigma’ and ‘genetic discrimination’ [13]. Respondents shared their experiences with stigmatisation and discrimination and often used the two interchangeably. Discrimination and stigmatisation are intertwined concepts [14]. Goffman’s conceptualisation of stigma is key to our understanding. Goffman defines stigma as, ‘an “attribute that is deeply discrediting” and that reduces the bearer “from a whole and usual person to a tainted, discounted one” [15]. Clarke [16] questions whether the stigmatisation individuals face is rooted in their conditions being of genetic origin. The answer to this question appears to be complex. Sankar et al.’s [17] research of individuals, all of whom had one of the following conditions: deafness or hearing loss, breast cancer, sickle cell disease, and cystic fibrosis, brought to light that the genetic character of a condition in and of itself is not particularly stigmatising. The experienced stigma was instead grounded in the participants’ lived experiences with the condition. Experiencing stigmatisation is accompanied with various stressors and, as such, individuals who experience stigma develop various coping strategies [15, 18]. In the context of genetic diseases, Peters et al. [19] have, for example, reported that individuals with Marfan syndrome utilise different strategies to cope with their fear of stigmatisation, including avoiding social situations in which stigmatisation might occur, keeping their genetic disease a secret to others, and aiming to educate others about their genetic condition.

Worrying about genetic discrimination can have serious consequences; it influences whether people undergo predictive genetic testing, whether they opt for anonymous genetic testing by commercial companies, and whether they decide to participate in research [20, 21]. Numerous Western countries, including Belgium, have responded to fears of genetic discrimination by enacting regulations and legislation [22, 23] that outlaws discrimination on the basis of genetic information as long as individuals are asymptomatic. However, despite these regulatory efforts, genetic discrimination is still an issue of concern for individuals confronted with a genetic risk [7, 24].

To understand these persistent fears of genetic discrimination, it is essential to gain insight into the origins and sources of these worries. Exploratory research suggests that fears of genetic discrimination arise from pre-existing experiences of living with the social consequences of disease [25, 26].

This article aims to contribute to this research by gaining an in-depth empirical understanding of the origins and sources of fears of genetic discrimination. The article empirically demonstrates how individuals’ fears of genetic discrimination are grounded in their family background of HD and, more specifically, in the stigmatisation and discrimination experienced by relatives. In addition, the article unravels the mechanisms participants use to cope with their fears of genetic discrimination. Participants’ narratives reveal two ways of normalising life: some persist in secrecy while others explicitly aim to be open about their predisposition it to others.

Methods and materials

This article is part of a larger research project studying the day-to-day lives of individuals at risk for genetic diseases in Belgium, with a particular focus on fears of genetic discrimination. The aim of the overall research project was to study the existence and backgrounds of fears of genetic discrimination, as well as the coping strategies individuals use. Next to individuals at risk of HD, persons at risk of BRCA1/2 are included in the project. A summary of the recruitment, data collection, and data analysis of this study is outlined in this paper, while a detailed version is provided elsewhere [9]. In this article, we draw on semi-structured interviews with individuals at risk for HD in Belgium. Participants were recruited through ‘Huntington Liga’, a Belgian patient group supporting individuals with HD and their family members. Recruitment through patient groups was chosen because of the larger variation among members: members may be asymptomatic or symptomatic as well as being at different stages of the testing process. Recruitment through genetic centres would result in participants who are merely in the same stage of the testing process, who already consider genetic testing and who might be confronted with a clinical point of view [25]. Recruitment through patient organisations is sometimes criticised because of potential self-selection [27] as well as recruiting merely ‘engaged individuals’ [28]. However, the objective, activities as well as membership of patient groups differs significantly from one patient organisation to another [29]. The Huntington Liga informs its members, organises activities in which experiences can be shared and has a social service which provides social support to members as well as their relatives. The Huntington Liga has ~550 members.

The invitation letter was published in the magazine of the Huntington Liga and distributed by professionals of the social service. The letter was drafted with great caution, introducing the study topic as ‘the lived experience of being at risk of HD’. It was mentioned that part of the interview would be about views of genetic discrimination. Bombard et al. [25] stated that using ‘discrimination’ might create bias. To resolve this we followed their suggestion to talk about ‘differential treatment’. Our topic list revolved around participants’ characteristics, living with genetics in general (e.g. living with/having awareness of a family history of a genetic disorder, the process of (not) agreeing to genetic testing, social implications of the test result, genetic responsibilities, communicating about genetic risk, coping with a positive genetic test result), and fears of genetic discrimination, stigmatisation, and prejudice. In relation to fears of genetic discrimination, our study focused on direct and indirect forms of genetic discrimination, the origins of concerns of genetic discrimination, and related coping strategies.

Although we anticipated challenges finding individuals willing to participate, we aimed to recruit a diverse group of participants [30] in terms of the following characteristics [25, 26, 31]: gender, age, family situation (being in a relationship or not, having children or not, having a family history of HD or not, having sisters/brothers), and stage in the testing process (tested a while ago, tested very recently, or not tested). Table 1 provides an overview of the general characteristics of participants. The age of the participants ranged from 28 to 60, with an average age of 41.

Table 1 General characteristics of participants.

Individuals interested in participating reached out on their own initiative. Following this initial contact, the Huntington Liga facilitated communication with their members and the interviews were conducted in person at a time and place chosen by the respondent. Twelve individuals with a family history of HD chose to participate in the study. Recruitment continued until no new themes were identified and saturation was reached. Ten of them were female and two were male. Eight individuals had undergone testing, seven of whom tested positive for HD. The other four individuals had yet to decide if they would undergo testing.

The interviews, which were recorded digitally and transcribed verbatim, lasted between 22 min and two hours and took place from November 2016 until March 2017. For the data analysis we draw on aspects of Charmaz’s grounded theory approach [32]. Throughout the analysis we pull on relevant theories and frameworks from studies on living with genetic risk, generally, and fears of genetic discrimination and stigmatisation, specifically. To conduct the process of analysis we used the software programme Nvivo. All interviews are anonymized. The names used in this article are aliases. The study was approved by the Social-Medical Ethical Commission (SMEC) of the KU Leuven (File number G-2015 09 350).

Results

Origins of fears of genetic discrimination: living with a family background of stigmatisation and discrimination

Despite Belgian insurance legislationFootnote 1 forbidding the use of genetic information and anti-discrimination legislation forbidding discrimination on the basis of genetic information, almost all participants (10) continued to fear the possibility of genetic discrimination [9]. Participants worried about direct forms of genetic discrimination by organisational actors, such as insurance companies or employers. In addition, participants worried about more subtle and indirect forms of genetic discrimination, expressing concern that people would look at them differently because of their genetic predisposition to HD [9]. Before undergoing a genetic test, Danielle [58, tested negative] for example worried that a positive genetic test would have an impact on her relationship. She was convinced that she would be labelled and “men would not want her” because of the future that might await her.

References to experiences and memories of living with HD across family generations permeated these narratives. Most of the participants have been aware of the disease for decades. While some knew exactly how HD was affecting relatives, others only had a strong feeling that ‘something was wrong’. Daphne (not tested), a 32-year-old woman, became aware of HD when her mother received a clinical diagnosis. Daphne described an experience of discrimination her mother faced:

‘There’s just a lot of incomprehension. I can see it with my mother. She behaves in such a socially undesirable way that she loses friends. … My mother has to deal with discrimination herself. Not so long ago she was on the bus and people thought she was drunk. And then someone said to her, ‘Wouldn’t you dance around that pole?’ (silence) If I was there, I think I would have punched the guy. But for her (hesitates) how must she have felt?’

Daphne expressed sadness, helplessness, and anger when discussing her mother’s experiences. Her mother’s feeling of being discriminated is, according to Daphne, due in great part to a lack of awareness and familiarity with HD. People do not know the disease and related symptoms, including appearing intoxicated. Daphne continued: ‘I think it has to do with the specific disease. … It’s a very embarrassing disease. You lose all your dignity. And also the taboo that surrounds it. And the unpredictable nature of it. It’s very difficult to witness how your relative’s character is changing.’ Daphne’s case shows how she feels worried about discrimination due to the experiences she had with relatives by lack of awareness about the disease.

The narratives illustrate how stigmatisation and discrimination against sick relatives have been present in participants’ lives for as long as they remember. Participants recounted how painful and frustrating these actions were to witness. In Goffman’s [15] categorisation of stigma, someone with HD is ‘discredited’, as their stigma is visible to or known by others. For example, the uncontrollable movements of Daphne’s mother, which appear to be signs of alcohol intoxication, are considered deeply discrediting by the people on the bus. Participants’ concerns of future stigmatisation refer to what Scrambler [33] defines as ‘felt stigma’ or Goffman’s [15] concept of ‘discreditable’, both of which describe stigma that is not yet visible to others. Participants in this study have yet to experience or display any symptoms of HD. They expressed distress about genetic discrimination. This distress over future negative treatment is heavily rooted in a family history of genetic disease and a positive genetic test [17, 34]. In an interview with Danielle (tested negative), a 58-year-old woman whose genetic test recently came back negative, the notion of taboo was brought up almost immediately. When her father became ill, she instantly detected the taboo that surrounds HD, especially within her own family. For years, her fear of being stigmatised and discriminated kept her from undergoing a genetic test for HD. She explained:

‘In the beginning both my sister and I did not want to know whether we would get the same disease as our father. We did not want to know if we would end up like our father. As long as it is not confirmed by a test, nothing is wrong. And as long as people do not know about it, they cannot think badly about us.’

Another participant, Lizzy (28, tested positive, asymptomatic), explained that she was somewhat scared her boyfriend might leave her if they found out that the genetic test was positive. She, therefore, chose to discuss it upfront with them, sharing:

‘I kept telling him like, “You know what? You can leave whenever.” Like, “Listen, this is my decision. …” Before getting the genetic test result I said, ‘Look, if it is positive and you can’t handle it, you are free to go.’ Like, I wanted to be as open as possible so he fully knew what he was getting in to. I did not want to cheat him into anything. He is very upset about the whole thing, but he wants to take care of me. So, at this stage now, I’m taking him to all the conferences [about HD]. I want him to be as informed as possible and know what he is getting into because it is hard to teach someone what to expect. My dad had no idea what to expect.’

Lizzy’s parents got divorced when she was only 8 years old. Her mother’s family never informed her father that HD ran in her family or that her mother had a 50 percent chance of having HD. Consequently, Lizzy decided to inform her partner from the very beginning so she would not end up in the same situation.

Along with experiences of stigmatisation and discrimination within their families, some participants also observed stigmatisation from individuals outside of their family and shared how this contributed to their worries over genetic discrimination. These experiences made them worry about genetic discrimination, even if the object of stigmatisation was not related to genetics. One participant conveyed concern that being at risk for HD would lead to genetic discrimination at work—a concern resulting from her experiences working in an HR department. As she stated:

‘I know exactly what theory and practices are applied in an HR department. And that is why I have never informed my employer about [my predisposition to] HD. And it is the same with friendships. I carefully try to assess whether I can trust someone with this information. … Especially in the work context, I have experienced how people do not deal very decently with this kind of information.’—Melany [40, not tested].

Participants’ fear of genetic discrimination originates from family backgrounds of stigmatisation and discrimination as well as from observations of stigmatisation and discrimination not related to genetics or family background. In the following paragraph we will discuss in more detail how participants cope with their fears of genetic discrimination.

Navigating a family background of HD: two coping strategies to deal with fears of genetic discrimination

Persisting in a family pattern of secrecy

A few years before this interview Danielle (58) underwent genetic testing for HD. The results came back negative, offering her a tremendous sense of relief. Danielle’s grandmother, as well as several of her aunts and uncles, suffered from HD. She wanted nothing more than ‘to live a normal life’ and, as such, lived in secrecy about it and suppressed her family’s history of HD for years before getting tested. In place of getting tested, Danielle vigorously hoped her father would not become sick, meaning she would also be free from the disease. Reflecting on her hesitation to confront her predisposition to HD, she shared:

‘As long as I did not undertake genetic testing, I could always avoid talking about the disease. I have always desired to live a normal life. At work no one knew. I wanted to live a normal life. I did not inform my children either. It took me a long time to finally talk with them about it. … I did not want that label. I didn’t want to see that unhealthy curiosity that people have. I felt that people might label me like, ‘Oh! For real? I am so sorry.’ (hesitates) I immediately felt like they would think, ‘That’s familial, your family is worth less.’

Daphne (32, not tested), who decided not to undergo genetic testing, has applied a similar strategy as Danielle. She is very secretive about her mother’s disease, as well as her one in two risk of also having HD. Both Danielle and Daphne are fully aware of HD and their personal risk, but they deal differently with it driven by their fears. Where Danielle lives in secrecy, Daphne chooses for partial openness. She is constantly trying to control who knows about her genetic risk and what exactly they know. When Daphne does disclose her predisposition to others, she chooses very wisely and after much consideration about who can be trusted. On the other hand, her mother frequently talks quite openly about the genetic disease. Daphne described:

‘My mother is very open about the disease she suffers from [HD], which is, for me (hesitates) I often say to her, ‘Do not tell people which disease you have. Just talk about A (stressed) disease, about A (stressed) neurological thing.’ And I have been very angry at my mother for talking about the specific disease. Afterwards I’ve felt guilty about my reaction but, for myself, I just do not want others to know. That is none of their business, it’s about ME (stressed) and about my brothers and our futures. I do not want to be labelled. No one should know. But I know it is my mother’s right to talk about it so I try to let her do whatever she wants which is very difficult for me. The idea that others might know about it and I do not know that they know it (hesitates)—I have to be in control.’

Here, Daphne applies an additional coping strategy; namely, she aims to withhold the name of the disease to conceal its severity. People might know her mother suffers from a neurological disease, but she refuses to talk about the specific disease because the genetic nature of it will be revealed. This way of coping, which Goffman [15] labels ‘to curl up’, is a typical way to handle stigmatisation. However, having to act as if nothing is wrong and having to keep this information, which might have a great impact on individuals’ lives, a secret, is often very stressful and challenging. However, having to act unbothered and having to hide a predisposition to a life-altering disease can have serious impacts on one’s life, including heightened levels of stress.

Breaking with relatives’ secretiveness

Vince (40, tested positive) always had a gut feeling there was something afflicting some of his family members. It was only after his father, who continuously denied that something was wrong, confirmed he suffered from ‘“a” disease’ that Vince tried to discover which disease it was. Seeing other family members also struggle with similar symptoms, Vince decided to undergo genetic testing. He tested positive. The coping strategy of Vince’s family, one of denial, has had repercussions on Vince’s own life. He expressed frustration that his family coped with this severe disease through denial. Unlike his family’s explicit choice to not talk about HD, Vince wants to be open about the disease, sharing:

‘I immediately informed my girlfriend about it [the positive genetic test]. I told my sister as well. And I told my friends too. Actually, I started talking about it very quickly. Because I wanted the opposite of (hesitates) … the generation of my parents who decided not to talk about it and [so,] I thought, “No, you should talk about it as much as possible.” You have to let others know that this [HD] exists and that it is part of a lot of suffering. So, actually, I talked about it to everyone.’

By openly discussing the disease that runs in his family and that will eventually present life-changing symptoms in Vince himself, he aims to create awareness. Another participant, Lizzy (28, tested positive), became very emotional when talking about how her family dealt with the disease. Her family never fully or correctly informed her about the disease. They also did not offer any sense of support. Therefore, after her mother got sick and she became aware that HD ran in her family, Lizzy started to look for information and support outside of her family. In her search, she came across the ‘Huntington Liga’, the Belgian patient organisation for individuals who suffer from HD and their relatives. As she describes:

‘That’s when I found the support group. I read more and more comments [on social media] and I was more just kind of like an observer. (hesitates) … I did not post too many things. I just wanted to see what was going on and read stories and people’s experiences. And that’s like when I was like, “Wow, it is amazing! This is out there!” And I was kind of, not robbed, but I could have used that support a long time ago. … So, after 25 years or, you know, all these years, just me being completely alone with this disease, it was like “Wow!” It was really kind of just, I do not know,… [it] completely opened my eyes and (hesitates) I guess the taboo was taken off a bit.’

Having a community to openly talk about the disease, as well as share her worries and thoughts with people going through the same struggles, made Lizzy realise she could live with HD in a way different from her relatives. She elaborated on her experiences with her family, stating:

‘And I felt also very frustrated at my dad then, because I was like, “How can you have kept me from this?” Again because, he could have done with the help, I could have done with the help when I was younger, and my sister could still. … I felt a bit cheated. I spoke to him about it, but then he was using the mentality of, “No, I wanted you to live a normal life.” So there’s always that—sorry (emotional)—that kind of mentality.’

Most participants lived with family members who, for years, kept quiet about having HD. Participants such as Lizzy and Vince explicitly aim to cope with HD and the knowledge that they will get it by being open about the disease. However, despite feeling a strong desire for this kind of transparency, these participants also feel as if they are not (always) able to be open. As Lizzy explained:

‘I kind of opened the door to this whole new world [by doing a genetic test], you know. [A world of] knowledge and support and I kind of want to speak out [about HD]. And you know, for me, I am happy posting all over Facebook that I will have the disease, just because I do not want there to be a taboo. But, then again, you have the whole other side of this—the stigmatisation. Like, it could really affect your career, your health insurance. In so many ways it can block you. So, then now I feel, now that I know the results, I feel trapped again because I cannot be so (hesitates) outspoken about it. I had liked to be [outspoken] because it kind of (hesitates) removes that burden off my shoulders. And, I don’t want… Because the taboo, I have lived with it so long. It was (hesitates), it took its toll on me.’

Having the ability to talk about the genetic disease and her positive genetic test result unburdens Lizzy. Despite knowing how this would benefit her, Lizzy feels that she still has to be very careful disclosing that she has HD, sharing:

‘So, the concern about being outspoken, mainly, is the impact it can have on my career. [Also] on health insurance. So, basically [the concerns are related to] money. I mean, my career is so important to me. I am really ambitious and to have that block me would be really upsetting for me.’

Lizzy, fearful of the genetic discrimination that could follow openly discussing HD and her positive test result, cannot be as fully transparent as she would like to be. She is aware she will get sick at some point in her life and she expressed that, at that point, she hopes to have the necessary resources to provide for her own care. Vince shared his own concerns regarding genetic discrimination:

‘The whole data mining that we see today is one of my concerns as well. Big data is everywhere and it is really easy for them to make connections between the information you give on Facebook and the information that you have provided elsewhere. And if you sum this all up, the next time that I have to purchase insurance they will say, “Yes, but you are doing this and this”. […] So, I am worried about that. Who knows what they will do with that information?’

Thus, participants like Lizzy and Vince, who have a strong desire to be transparent about their positive test result for HD, are holding back due to fears of genetic discrimination. Belgium’s anti-discrimination legislation (2007) does not take away those fears. Lacking the ability to be open might result in feelings of distress and frustration. As Lizzy pointed out, she feels ‘trapped’ between her strong wish to be transparent to cope with her positive genetic test for HD and her fear of facing genetic discrimination. This fear of genetic discrimination, in a way, forces them to instead adopt a strategy of ignorance and secrecy.

Discussion and conclusion

Research has shown that, despite regulatory efforts adopted to alleviate fears of genetic discrimination, people still worry about it [9, 23, 24]. To address these worries over genetic discrimination, is it essential to gain in-depth knowledge about the origins of their concerns and the strategies with which they use to cope. This article aimed to do so by studying the origins of worries about genetic discrimination among individuals with a predisposition to HD and the coping strategies they use.

Fear of genetic discrimination is grounded in an individual’s family background and experience with HD. In the context of medicine and the science of genetics, family history primarily refers to the occurrence of a particular genetic condition in a family. Yet, our analysis of the origin of worries about genetic discrimination reveals that incorporating the experiences of being a member of a family living with a (genetic) condition into our understanding of family medical history is fundamental. The majority of participants’ families in this study have chosen to cope with HD, a severe degenerative condition, through secrecy or denial. Some are secretive in the sense that they do not talk about the genetic disease or do not call the disease by its name. Kessler also identified this secretiveness in families with HD [35], linking it this with a sense of shame which leaves a mark on families with HD, especially on children who need parental approval and affection. Others even denied the existence of a genetic disease in their family. This brings us back to Wexler’s quote from the beginning of this article: ‘Secrets, moreover, especially so dramatic a secret as Huntington’s, may form part of a family’s emotional inheritance, a psychological legacy handed down along with the family Bible, affecting every aspect of family life for generations.’ [1] It is remarkable to observe that 25 years after Wexler’s publication, in a time where genetic non-discrimination regulations are in place and where genetics has become part of common clinical practice, participants in our study still expressed similar experiences and fears.

Having witnessed stigmatisation and discrimination against symptomatic relatives, our participants worry about being subjected to genetic discrimination by organisational actors as well as genetic discrimination in social relationships. The importance of family background was also found in exploratory research by Geelen et al. [26] and Bombard et al. [25]. Adding to the research, this article illustrates the strategies participants adopt to cope with their worries about genetic discrimination. Two different coping strategies were identified. Some participants prefer to follow the way of their relatives: a way of secrecy. Secrecy is a common strategy used to cope with (the possibility) of stigmatisation [15]. By either keeping their genetic predisposition a secret or not disclosing the specific disease, participants hope to live a ‘normal life’ and, as such, try to avoid problems related to discrimination and stigmatisation. Other participants actively chose a different path: a path of openness. While some wanted to be open to everyone, others were only partially open, only to whom they can trust. Their choice to be transparent was explicitly made in opposition to their relatives’ way of coping through secrecy. In other words, participants who choose openness do so hoping they will not be confronted with the similar stereotypes, stigmatisation, and discrimination their relatives faced. However, notwithstanding their strong desire to talk openly about the disease, participants conveyed how concerns of genetic discrimination keep them from being completely open. They fear that their genetic information might be misused, limiting their ability to be as open as they wish. In particular, participants feel most apprehensive about disclosing their predisposition to HD in the context of employment and insurance. ‘Being trapped’ between their strong desires for openness and their fears of genetic discrimination results in frustrations and grief. Overall, participants’ narratives indicate that both coping strategies used to normalise life come again with novel struggles.

The finding that fear of genetic discrimination originates from family backgrounds of stigmatisation and discrimination illustrates why apprehension over facing genetic discrimination is still present. This persistence over time may be related to the absence of appropriate public awareness campaigns, lack of genetic counselling, ill-conceived genetic non-discrimination laws and the insidious nature of discrimination itself, all contributing to a climate of uncertainty over genetic discrimination that cannot quell existing apprehensions [36]. To address worries over genetic discrimination we have to move beyond regulatory efforts; in particular, societal awareness of genetic conditions should be increased. It is posited that sharing the harmful psychological and social effects of stereotypes around these diseases is essential to improving society’s understanding of them [37, 38]. A greater awareness around diseases like HD, for example by putting forward the day to day lives of individuals at risk of genetic disease in public campaigns, can help to ‘normalise’ genetics in society. Another way to address these worries is through professional help. Genetic counsellors have the task to comprehensively inform people and refer them to other psycho-social professionals to help them to learn to live with the social implications of disclosing their genetic information, including their concerns of genetic discrimination. As such, professionals can help to learn how to communicate about genetic diseases in families. For some participants joining a patient organisation was the first time they were able to openly talk about their genetic predisposition, as well as their worries and struggles. Connecting with individuals going through the same and hearing how they have coped had a healing effect on participants. Since many participants come from families in which there was little to no discussion about HD, they consider the patient organisation as a reliable source of information and safe setting.

As worries of genetic discrimination remain an issue of concern, it is imperative to continue research to gain deeper understanding of the social aspects of living with genetics. First, future research should study whether the proposed non-regulatory measures, such as creating awareness about genetics and providing extensive counselling, help to alleviate fears of genetic discrimination. Second, it is imperative to study the impact of novel genomic technologies, such as Next Generation Sequencing (NGS), on fears of genetic discrimination. The output of Next Generation Sequencing (NGS) is much more uncertain than a genetic test for HD, requiring again a lot of human effort to deal with this information [39]. A promising initiative for future research is the recent launch of the Genetic Discrimination Observatory where researchers and stakeholders intend to study and prevent genetic discrimination on a global scale [36].

Notes

  1. Article 58 and article 61 of the Belgian Law on Insurance (2014) are of relevance in the context of genetic discrimination. Article 58 of the Law states that the insured individual should disclose all information that could be considered relevant to the risk assessment of the insured. In addition, genetic information should not be disclosed by the insured person. Article 61 on medical investigations necessary to obtain an insurance contract, states that medical investigations cannot be based on genetic testing to determine future health status.

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The research for this article is part of and supported by the Odysseus project ‘Postgenomic Solidarity. European Life Insurance in the era of Personalised Medicine’, funded by the Research Foundation Flanders (FWO), grant number 3H140131.

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Wauters, A., Van Hoyweghen, I. Normalising life at risk of Huntington’s disease. A qualitative study of backgrounds and coping strategies of fears of genetic discrimination. Eur J Hum Genet 29, 940–948 (2021). https://doi.org/10.1038/s41431-021-00822-z

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