Abstract
Huntington’s disease (HD) is a progressive neurodegenerative disorder that causes uncontrolled movements, cognitive impairment, and psychiatric disturbances. Given the fully penetrant nature of the disease, individuals that test positive for the HD mutation will face the chronic, lethal nature of the adult-onset disorder. As no treatment currently exists, the decision to undergo genetic testing remains challenging as a positive test result may accompany a multitude of psychosocial consequences. As a result, prenatal testing for HD presents multifaceted issues centered around ethical challenges and termination. Since genetic counselors are directly involved in prenatal genetic testing, the current study sought to explore genetic counselors’ experiences in counseling both at-risk and gene-positive patients about prenatal testing for HD. Participants were recruited through the National Society of Genetic Counselors (NSGC) and the American Board of Genetic Counselors (ABGC), along with a recruitment notice posted to Twitter. Participants were asked to complete an online survey designed to collect both quantitative and qualitative data regarding counseling/testing experiences, non-directiveness, counseling topics, and ethical challenges. A total of 27 responses were included in our analysis, with the majority of participants (67.6%) currently working as prenatal counselors. All genetic counselors who participated in this study reported previous experience counseling patients who are at-risk and/or gene positive for HD and requesting prenatal testing. This study found that most genetic counselors (>60%) offered prenatal testing regardless of gene status. While most counselors reported feeling that this type of counseling was more directive than counseling styles used in other clinical genetics sub-specialties, participants varied in how often they discussed termination of a positive pregnancy, with approximately half the counselors finding it inappropriate to discuss termination. Notably, genetic counselors felt the most important topic to discuss during these patient encounters was ethical challenges surrounding the implications of prenatal testing. The majority of counselors focused on challenges such as presymptomatic testing of a minor and the protection of the child’s autonomy. Most participants emphasized the necessity to create more specific guidelines that would provide a framework for which topics or ethical challenges to address with the patient, as well as what level of directiveness is appropriate. This study provides insight into the experiences genetic counselors have when discussing prenatal testing options with patients who are at-risk or gene-positive for HD and elucidates what challenges may be best addressed in future guidelines or patient conversations.