Leah Wetherill

Background Persons with Parkinson's disease (PD) who have received genetic test results are faced with the decision of whether, and how, to share that information with family. Studies in other specialties have shown high rates of disclosure motivated by a sense of responsibility. Rates of, and attitudes surrounding, disclosure have yet to be reported in this population. Objectives To explore the disclosure practices and motivations of patients with PD regarding genetic test results, allowing insight to guide genetic counseling and navigation of test result discussions. Methods A cross‐sectional online survey was distributed to adults with PD and previous genetic test results. Survey questions assessed demographics, genetic testing results and delivery, sharing behaviors, perceptions of PD, and motivations and barriers to family disclosure. Results Among respondents, 88.9% shared results with at least one family member, most often a child (73.5%) or sibling (65.4%). Seventy‐four percent reported sharing results with someone outside of their family, most frequently a friend (88.4%). The most common motivation for disclosure was the perception that family members would want to know. Barriers to disclosure were lack of close relationships, understanding results, and perceived utility. Conclusions Disclosure rates in this PD population were consistent with those in previously reported populations. Motivations were anchored in perceptions of utility and family desire for information, suggesting a need to adjust patient education to improve retention and to explore family dynamics and perceptions of results.

In the Indiana University Health (IUH) Medical Genetics clinic, certified genetic counselors disclose genetic test results to patients by telephone. The wait‐time between a result call‐out and a follow‐up appointment can vary from weeks to months depending on the medical geneticist's availability. Understanding the experiences that families face during these waiting periods can inform the field regarding what clinical improvements can be made to enhance patients' experiences. Our study explored three topics: the effects of wait‐times on parents or patients between a result disclosure and medical genetics follow‐up appointment, their anxiety levels during those wait‐times, and suggestions for improving parents' and patients' experiences with genetics clinics. Patients or parents who were over 18 years old, who received an initial result call‐out between May 2020 and September 2022 prior to a medical genetics follow‐up appointment, and who had a diagnostic or a variant of uncertain significance (VUS) genetic test result were recruited for study participation. Individuals were surveyed on their diagnosis, wait‐time following result disclosure, feelings during the wait‐time, and preferences for result disclosures. The results showed that length of wait‐time after a result call‐out was not associated with increased anxiety; however, a background in genetics and support group involvement were associated with increased anxiety. The majority of respondents reported that if a genetic counseling‐only appointment could occur closer to the time of results call‐out, they would prefer to have a genetic counseling‐only appointment with a second appointment for medical management with a geneticist later (58.1%). Based on these results, medical genetics clinics should consider implementing genetic counseling‐only appointments to reduce wait‐times for follow‐up appointments.