Motivations and Attitudes for Pursuing Anonymous Genetic Testing for  Huntington’s Disease

Advisor: Leslie Dunnington, MS, CGC)

Huntington’s disease (HD) is a progressive neurodegenerative disorder for which predictive and confirmatory testing is available. Only a small portion of those at-risk complete testing. Concern regarding genetic discrimination is often cited as a reason testing is declined. This leads some to seek anonymous testing, which refers to measures that are taken to exclude identifying information, so test results are not linked to legal names or medical records. However, previous studies suggest anonymous testing is not widely favored by healthcare providers or universally available, and these studies also precede the implementation of the Genetic Information Nondiscrimination Act (GINA). This study aimed to assess the motivations for pursuing anonymous testing and perceived attitudes by surveying English-speaking adults in the United States with a personal and/or family history of HD. Questions assessed demographics, genetic testing status and experience, federal law literacy, family history of HD, and opinions regarding anonymous testing. Participants were recruited online through various HD organizations’ websites and in-person at multiple testing centers. Descriptive and inferential statistics were performed on 135 survey responses. The majority of participants (79%) reported that anonymous testing should be offered for HD. The following motivators for pursuing anonymous testing were identified: protect privacy of genetic information, feel in control/autonomous, and reduce risk of genetic discrimination. We found higher familiarity with GINA was the best predictor for undergoing anonymous testing (p < 0.001). While genetic discrimination was a high concern for 80% of all participants, those who reported concern of discrimination by family or community were more likely to test anonymously than test, not anonymously, or at all (p = 0.005, p = 0.042, respectively). Concerns regarding obtaining/retaining insurance, genetic discrimination, and privacy were the highest rated reasons of the 42 participants who have not tested. While our study identified both advantages and disadvantages of anonymous testing, the results demonstrate anonymous testing has high patient-perceived utility and may be an additional testing option for individuals who are hesitant to test due to privacy or discrimination concerns. Recommendations for clinical practice include tailoring testing options to the patient’s motivations and fears, explaining pros, cons, and the process of anonymous testing to encourage informed decision making, and expanding the discussion of GINA’s protections and limitations in pre-test counseling. 

Advisory Committee:
Leslie Dunnington, MS, CGC, Chair
Syed S. Hashmi, MD, MPH, PhD
Jessica Corredor, MS, CGC
Kendra Anderson, PhD
Mara Sifry-Platt, MS, CGC
Marc Rosenbaum, MS, CGC

Attend via Teams