Genetics in everyday life. A qualitative study of individuals at risk of hereditary breast and ovarian cancer (BRCA) and Huntington’s disease (HD) about fears of genetic discrimination

For decades, as our understanding of human genetics has continued to advance, socio-ethical and legal scholars have raised questions and concerns about the ethical and social implications (ELSI issues) of genetics. One specific ELSI concern is that increased knowledge and applications of human genetics might lead to new forms of negative treatment, discrimination, and stigmatisation. In the nineties, several Western countries responded to this threat of genetic discrimination through regulation and legislation. Despite regulatory efforts to prohibit genetic discrimination, our systematic literature review of fears of genetic discrimination illustrates that people still fear genetic discrimination. To understand why people continue to fear genetic discrimination despite the implementation of anti-discrimination legislation, this PhD research traces the existence and background of fears of genetic discrimination, as well as the coping strategies individuals adopt to manage these fears. This thesis presents an analysis of semi-structured interviews with Belgian individuals predisposed to hereditary breast and ovarian cancer (BRCA) and Huntington's disease (HD). Belgium was an ideal case study because it was one of the first countries to enact legislation forbidding the use of genetic information in insurance and its anti-discrimination legislation of 2007 includes genetic information as one of the criteria against which citizens should not be discriminated. BRCA and HD were selected due to their variation in terms of the level of disease risk that is associated with being a mutation carrier, the kind of symptoms, the availability of preventive measures and treatment options, and societal awareness of the disease. This PhD research reveals that, despite Belgium's regulatory efforts, participants still fear genetic discrimination. Participants worry about genetic discrimination by organisational actors such as insurance companies or employers, but also about genetic discrimination in social relationships. For example, participants worry that a potential partner would not want to be with them because of their increased risk of becoming sick. In addition, their fears are not limited to direct and overt genetic discrimination, but also include indirect and subtle genetic discrimination such as being looked at differently or having limited career opportunities. While BRCA participants expressed concern over genetic discrimination, their level of concern and the specific forms of discrimination over which they are concerned, are less profound than the concerns expressed by HD participants. What is clear from the narratives of BRCA participants, however, is that they struggle with the various dilemmas, and limitations that arise from 'doing' genetic responsibilities. They struggle with the responsibility of managing their own health, as well as the responsibility to inform relatives about their genetic risk. Moreover, the interviews show that every dimension of genetic responsibility comes with burdens and finding a feasible approach to addressing all of one's genetic responsibilities is particularly challenging. The concerns of participants at risk for HD over genetic discrimination are more profound. The interviews with these participants indicate that concerns of genetic discrimination are grounded in participants' family backgrounds. Participants, having witnessed numerous events in which symptomatic relatives suffered discrimination and stigmatisation, expressed heightened fear of facing similar discrimination. Further, this research 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. Overall, this PhD research provides insight into 'the humanity of genetics'. The humanity of genetics stresses the importance of considering how genetic diseases impact the everyday lives of individuals and families. Participants struggle with many difficult decisions, including whether or not to share their family history of genetic disease with others, to inform their relatives of their genetic risk, and to have children who might experience similar struggles and worries. Further, they must balance their fear of genetic discrimination with their desire to be transparent about their genetic risk. The insights of this PhD research urge us to rethink the efforts taken to cope with worries about genetic discrimination. Namely, we should move beyond regulatory efforts, which are not enough. A greater awareness about what genetics and genetic conditions are, as well as awareness of how genetic conditions impact the lives of individuals and families, can help to advance the 'normalisation' of genetics in society. Next, to deal with the social dimensions of genetic testing, it is imperative to provide professional support. Genetic counselling should not be limited to assistance right before and after a genetic test, but should instead be available throughout one's life, as genetic conditions and their effects can remain constant. Participants also value patient organisations. They are perceived as a safe place where people can discuss worries and struggles with others who have similar experiences. As worries about genetic discrimination remain an issue of concern, it is important to follow the route taken in my PhD research and gain in-depth knowledge on the social aspects of living with genetic disease. On the basis of the results of this thesis I call for sustained care and attention to people's experiences living with genetic information. The huge amount of human work that seems to be required to 'absorb' genetic knowledge and to accommodate it in our everyday lives should be recognised and efforts should be taken to assist individuals and families with this.

Publication year:2021

Accessibility:Open