The advent of predictive HD gene testing has raised many unique issues, including the confidentiality of genetic information and the potential for social stigmatization and discrimination. There are also philosophical challenges regarding identity, responsibility, and what it means to live with genetic information that predicts future health status. Some choose not to have predictive testing due to these issues. We examined, as part of RESPOND-HD, the experiences of Australian individuals with a family history of HD and/or who tested for the HD gene in order to evaluate the related social, ethical, and legal issues.
Fifty-four participants so far have completed the RESPOND-HD survey at our Site 144. Information was gathered concerning each participant's background, history, experiences and decision making about genetic testing, family history relating to HD, knowledge of advantages and disadvantages of genetic testing and opinions on testing, and experiences of adverse and unfair treatment. Knowledge about existing laws and policies surrounding genetic discrimination and its use was also gathered. The subscales included questions relating to behavioral, decision-making, and coping style, life experiences, and spiritual, physical, and emotional wellbeing.
There was a wide age range of respondents (M = 46 years, SD = 12), with 35% male and 65% female participants. All had genetic testing (59% gene-positive, 41% gene-negative). Ninety-eight percent of participants stated that knowing test results was positive and 72% reported ‘great benefit’ in knowing test results. Many respondents experienced adverse events and felt that they had been treated unfairly. Thirty percent reported specific incidents of genetic discrimination, with complaints in the insurance arena the most common (18%). Problems with employment, superannuation, and blood donation were also reported. Additionally, there is inadequate knowledge about the existing related laws and policies. Overall, this study revealed significant risk of discrimination to the Australian HD community. Detailed results are being analyzed for presentation.
