This is the first study to report on the nature and prevalence of genetic discrimination among an asymptomatic tested and untested population and to distinguish between discrimination based on family history and genetic test results. Despite previous claims that genetic discrimination is rare,33 34
discrimination was reported by nearly 40% of the individuals we sampled. Genetic discrimination occurred most often in reference to life and disability insurance, and among family and friends (12.4-29.2%). Surprisingly, there were few reports of genetic discrimination in employment, healthcare, or public sector settings (3.9-6.9%). Interestingly, family history seems to be a major reason for experiences of genetic discrimination. Psychological distress was strongly associated with genetic discrimination (P<0.001).
Nearly one in three of the respondents reported insurance discrimination, largely by life and disability insurance companies in the forms of insurance rejection, premium increases, or requests to take a predictive test. Surprisingly, however, these experiences were not influenced by individuals’ participation in genetic testing or their genetic test results; rather they were attributed to family history. Before the introduction of the Huntington’s disease predictive testing programme, concerns were raised that insurance companies might misuse genetic testing by demanding “such a test before entering into a contract with someone at risk.”15 16
Although such requests occurred, they were not limited to the tested group. Our results therefore do not support apprehensions that genetic testing confers heightened levels of genetic discrimination related to insurance.
Surprisingly, family and social circles were the next major source of discriminatory experiences. One in five respondents reported genetic discrimination in these settings, mostly in reference to reproductive decision making and relationships. No survey to date has explored discrimination in areas other than institutional domains. Discrimination in the family must be viewed through a wider lens that captures the profound impact the presence of Huntington’s disease and predictive testing can have on the family system. Often when Huntington’s disease is present in a family, it becomes part of a family’s identity and pattern of behaviour.
The advent of predictive testing for Huntington’s disease introduced the opportunity to remove the uncertainty of a looming disease and to plan for the future, but with it comes the potential inability to cope with the predictive test results, both by the individual as well as by family members. This is particularly challenging given that no treatment exists to slow or prevent the disease. There was apprehension that disclosure of test results may precipitate depression, breakdown of family relationships, or suicide.15 16
Likewise, the availability of genetic testing creates new pressures and dilemmas for the family.35
The decision to test itself can become a “litmus test by which relatives judge each other’s loyalty to the family,”35
and testing often produces disruption within the family.36
Clearly, the availability of predictive testing produces reactions towards those who test and those who choose not to test. This study provides further insight into the impact of genetic testing on the family and highlights a need to pay special attention to family and social domains during pretest and post-test counselling. These results also suggest the need for further research on genetic discrimination in this area.
Interestingly, tested respondents attributed their experiences of genetic discrimination to their family history more often than to their genetic test results. These results lend further support to the similar levels of discrimination seen between the tested and untested groups. Indeed, regardless of testing status, most individuals believed that family history was the predominant reason for their discriminatory experiences. Clearly, there is a need to shift the current focus of genetic discrimination as a genetic testing issue to one that equally highlights the role that family history plays in people’s lives.
Psychological distress was strongly associated with genetic discrimination. Our results are consistent with previously documented associations of distress with racial, sexual, and ethnic discrimination.26
Still, the health outcomes of genetic discrimination have not been described, raising the effects of genetic discrimination to a mental health issue which requires appropriate counselling and support.
Discrimination in employment, healthcare, and public sector settings was infrequently cited by our respondents. Despite concern for genetic discrimination in employment,17
little discrimination seems to be occurring in this setting. The low levels of discrimination in the healthcare domain support the assumption that healthcare professionals have a better understanding of genetic risk and are likely to use such information appropriately. These findings may also be influenced by the existence in Canada of a healthcare system where access and treatment are universal and not determined by employment.
Our findings are particularly important in light of the recent US federal Genetic Information Nondiscrimination Act. This prohibits group and individual health insurers from using a person’s and his or her family’s genetic information in determining eligibility and setting premiums for health insurance and from requesting or requiring potential applicants to provide genetic test results. Furthermore, it bars employers from using genetic test results in their hiring, firing, job placement, or promotion decisions.8
Such legislative protection against genetic discrimination in health insurance would make a basic level of coverage accessible to all members of society without the need to disclose genetic information. However, by focusing exclusively on health insurance and employment, the legislation does not address the commonly occurring discrimination with regard to life and disability insurance, nor the genetic discrimination that occurs within social and family relationships. The areas of greatest need may not be protected by this legislation.
Legislation is not a feasible approach to regulate interactions within family and social relationships. Insight into the psychodynamics of genetic discrimination would be important in the development of appropriate intervention strategies to mitigate discrimination. Strategies might include comprehensive education and support programmes to inform and engage society about genetics to reduce ignorance and the resultant level of stigma and discrimination. Support groups are common for many hereditary disorders and could be used to strengthen social support networks and assist those who wish to lodge formal complaints against genetic discrimination. Ultimately, such structural interventions may be necessary to change the social climate around genetic disease.
Limitations of study
Our findings should be interpreted in light of our study’s methodological limitations. Our findings are based on data from Canada, and may not be generalisable to jurisdictions without universal health care. The cross sectional design did not allow us to make conclusions about causal effects of genetic status or family history on experiences of genetic discrimination. Longitudinal studies with larger sample sizes are needed to draw definite causal conclusions and confirm the presence or absence of associations. In addition, discrimination experiences were self reported and could not be validated; thus, reported experiences are the respondents’ perception of discrimination. It is thus possible that our results represent an overly optimistic view of the nature and extent of genetic discrimination. Alternatively, study participants may be more aware of the issue of genetic discrimination and thus be better able to recognise it (or its occurrence).
Our sampling strategy relied on reports of discrimination among people attending clinics and participating in research who may be more resourceful and better able to cope with the psychosocial consequences of testing or research. The motivation and emotional wellbeing of people who are connected with clinics and participate in research or predictive testing may therefore be unrepresentative of the general population at risk of Huntington’s disease. Finally, our measure of psychological distress was not a diagnostic instrument. Psychological distress is a multidimensional concept that may not be fully captured by a single item.
Implications of our results
Our findings have implications beyond Huntington’s disease. Indeed, the predictive testing programme for Huntington’s disease, a classic monogenic disease, has served as a model for presymptomatic testing for several genetic and non-genetic diseases.37 38 39
Our findings also provide insights for genetic screening programmes for diseases associated with genes of small effect as well as other late onset and neurological conditions. Predictive testing for Huntington’s disease represents an extreme model for an autosomal dominant disease of high penetrance for which there is a well validated test. Even in such an extreme case, our study highlights the importance of family history in people’s experiences of genetic discrimination. Ultimately, asymptomatic individuals at genetic risk are at similar risk for discrimination because of their label of having a family history of disease.
What is already known on this topic
- Genetic discrimination is a potential risk associated with genetic testing, and fear of it has prevented individuals from undergoing genetic testing and participating in genetic research
- There is little evidence regarding the frequency and context of genetic discrimination after genetic testing
What this study adds
- Genetic discrimination was a commonly reported experience and a source of distress for people at risk for Huntington’s disease
- Family history, and not genetic testing, was the major reason for genetic discrimination