Perception, experience, and response to genetic discrimination in Huntington disease: The international RESPOND‐HD study

Abstract

Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adverse treatment based solely on genetic information (including family history)—is an important concern to patients, healthcare professionals, lawmakers, and family members at risk for carrying a deleterious gene. Data from the United States, Canada, and Australia were collected from 433 individuals at risk for Huntington disease (HD) who have tested either positive or negative for the gene that causes HD and family members of affected individuals who have a 50% risk for developing the disorder but remain untested. Across all three countries, a total of 46.2% of respondents report genetic discrimination or stigma based on either their family history of HD or genetic testing for the HD gene mutation. We report on the overall incidence of discrimination and stigma in the domains of insurance (25.9%), employment (6.5%), relationships (32.9%), and other transactions (4.6%) in the United States, Canada, and Australia combined. The incidence of self-reported discrimination is less than the overall worry about the risk of discrimination, which is more prevalent in each domain. Despite a relatively low rate of perceived genetic discrimination in the areas of health insurance and employment, compared to the perception of discrimination and stigma in personal relationships, the cumulative burden of genetic discrimination across all domains of experience represents a challenge to those at risk for HD. The effect of this cumulative burden on daily life decisions remains unknown.

Perception, Experience, and Response to Genetic Discrimination in Huntington's Disease: The Australian Results of the International RESPOND-HD Study

“…Currently, most Australian employers are not using genetic testing to monitor present or future employees, but this is largely due to the limited accessibility and excessive cost. The low number of respondents in the present study reporting perceived discrimination in employment, compared to the more common occurrence in the USA, may arguably be due to the fact that in the USA employers are usually also responsible for health insurance (Erwin et al, 2010).…”

“…Experiences were not limited to situations governed by laws, regulations, or policies, but also included those that may result in prejudice, loss of privileges, and personal hardships. Full description of development, validation, and analysis is reported elsewhere (Erwin et al, 2010). This study forms part of The International-RESPOND-HD study: Erwin et al (2010) report combined results across three countries (USA, Canada, and Australia), and Williams and colleagues (2010a, b) report combined qualitative narrative findings from all countries.…”

Personal Factors Associated with Reported Benefits of Huntington Disease Family History or Genetic Testing

“…Although perceptions of discrimination regarding insurance and social relationship (Penziner et al, 2008;Erwin et al, 2010) are shared across recent reports, other arenas in which discrimination is perceived to occur include health insurance (Oster et al, 2008), family (Bombard et al, 2009), and life insurance access (Barlow-Stewart et al, 2009). Other negative consequences may include depression, difficulties with transitions such as starting new relationships, planning a family, or coping with favorable test results (DudokdeWit et al, 1998;Tibben, 2007;Gargiulo et al, 2009).…”

Development of the Huntington Disease Work Function Scale

“…The management of disclosure of prodromal HD status to employers is a sensitive topic for which persons with prodromal HD may fear loss of their jobs or other forms of workplace discrimination, as reported by approximately 6% of persons in an international sample. 19 In cases where workplace accommodations can be made, some individuals with prodromal HD report that they can continue to be productive in their work environment. 18 …”

“…Although employer data may be a preferred indicator of work function, this is not feasible for some people with prodromal HD, as the potential for genetic discrimination is an important concern for this population. 19 …”