Author ORCID Identifier
0009-0006-6142-2014
Date of Graduation
5-2024
Document Type
Thesis (MS)
Program Affiliation
Genetic Counseling
Degree Name
Masters of Science (MS)
Advisor/Committee Chair
Leslie Dunnington, MS, CGC
Committee Member
Syed S. Hashmi, MD, MPH, PhD
Committee Member
Marc Rosenbaum, MS, CGC
Committee Member
Kendra Anderson, PhD
Committee Member
Jessica Corredor, MS, CGC
Committee Member
Mara Sifry-Platt, MS, LCGC
Abstract
Huntington’s disease (HD) is a progressive neurodegenerative disorder for which predictive and confirmatory testing is available. However, only a small portion of at-risk individuals complete predictive testing. Concerns of privacy and genetic discrimination have been cited as reasons testing is declined. This leads some to seek anonymous testing, a process in which measures are taken to exclude identifying information, thereby preventing results from being linked to legal names, medical records, or health insurance. Previous research suggests anonymous testing is not widely favored amongst healthcare providers, but patient perspectives have not been described. These studies also precede the implementation of the Genetic Information Nondiscrimination Act (GINA), a law enacted to address concerns of genetic discrimination. This study aimed to assess the motivations and attitudes for pursuing anonymous testing in English-speaking adults living in the US with a personal and/or family history of HD, regardless of testing status. Questions assessed demographics, genetic testing status and experience, federal law literacy, and opinions regarding anonymous testing. Participants were recruited online through various HD organizations and in-person at the UTHealth HD clinic and a local support group. Responses (N=135) were analyzed via descriptive statistics, Kruskal-Wallis test, and a multinomial logistic regression with significance values of p﹤0.05. Most participants (79%) reported that anonymous testing should be offered for HD. Motivations for pursuing anonymous testing included to protect privacy of genetic information, feel in control/autonomous, and reduce risk of genetic discrimination. Concerns regarding obtaining/retaining insurance, genetic discrimination, and privacy were the highest-rated reasons to decline testing by 42 participants who have not tested, suggesting anonymous testing may be an additional testing option for those with exceptional privacy or discrimination concerns. While our study identified both advantages and disadvantages of anonymous testing, the results demonstrate anonymous testing has high patient-perceived utility. We found higher familiarity with GINA was the best predictor for undergoing anonymous testing (p < 0.001). Recommendations for clinical practice include tailoring testing options to the patient’s motivations and concerns, 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.
Keywords
Huntington's disease, anonymous testing, genetic discrimination, genetic counseling, genetic testing, privacy protection