Factors Influencing Patient Disclosure of Parkinson's Disease Genetic Testing Results to Relatives.

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.

Delivering Genetic Test Results for Parkinson Disease: A Qualitative Approach to Provider Experiences in the PD GENEration Study.

Background and Objectives: The PD GENEration (PD GENE) study (NCT04057794) is an interventional clinical trial offering genetic testing with result disclosure and genetic counseling to individuals with Parkinson disease (PD). In general, experiences of those providing PD genetic testing and counseling in a research or clinical setting have not been extensively evaluated. In this study, providers' experiences when providing research result disclosure and genetic counseling to people with PD were explored with the goal of improving PD genetics services. Methods: Qualitative semistructured interviews of all neurologists and genetic counselors who performed genetic test result disclosure and genetic counseling to at least 5 participants in the pilot portion of the PD GENE study were conducted. An inductive thematic analysis of the transcribed interviews identified core themes and subthemes for "lessons learned" and "challenges encountered." Results: Interviews were conducted with 14 providers (7 neurologists and 7 genetic counselors) who described multiple lessons learned while disclosing genetic test results, including the ability to adapt to participant background and needs and the value of a well-structured and supportive study that also provides training and educational materials for the provider. Of importance, responses suggested that the PD GENE study answered a real need, highlighting a strong interest in the community. Providers also voiced several shared challenges including the complexities of PD and PD genetics, unexpected confusion on provider roles within a research study, and complicated family histories/dynamics. Discussion: Providers in the pilot portion of the PD GENE study encountered enthusiasm and strong engagement from many of the participants, and they, too, voiced significant satisfaction about their roles and the mission of the study. They learned valuable lessons, and their comfort providing genetic test result disclosure and genetic counseling grew as the study progressed. Although there were challenges, they were deemed manageable. The results from this qualitative study can inform both the expanded PD GENE study and other providers offering genetic testing and counseling to their patients in a neurology setting. It will also allow for targeted PD provider education.

Outcomes of genetic test disclosure and genetic counseling in a large Parkinson's disease research study.

Genetic testing for Parkinson's disease (PD) is growing as interventional clinical trials begin to enroll participants with PD who carry pathogenic variants in the LRRK2 or GBA genes. However, the impact of receiving genetic test results and the satisfaction with receiving genetic counseling among PD populations have not yet been studied. The purpose of this study was to evaluate (1) the psychological impact of genetic testing for PD and (2) satisfaction with genetic counseling. Surveyed participants (N = 875) were individuals with PD or at risk of developing PD, initially recruited for the Parkinson's Progression Marker Initiative (PPMI) study and currently enrolled in the Widespread Recruitment Initiative (WRI) at Indiana University. Individuals were surveyed following genetic test disclosure and genetic counseling regarding results from targeted testing for pathogenic variants in the LRRK2 and GBA genes. Participants were surveyed via two tools: a modified version of the Multidimensional Impact of Cancer Risk Assessment Survey (M-MICRA), which measured the psychological impact of genetic testing and the Genetic Counseling Satisfaction Survey (GCSS). Participants were divided into affected/unaffected and variant positive/negative groups for subset analyses. The majority of participants had favorable M-MICRA scores and were satisfied with the disclosure of the genetic test results and genetic counseling for PD. However, participants with PD and those with pathogenic variants had less favorable M-MICRA scores and lower satisfaction scores compared to those without disease or pathogenic variants. This information is valuable to providers performing genetic testing of and genetic counseling to people and families affected with PD. Individuals with PD and individuals with pathogenic variants may benefit from additional interventions.

The Promise and Pitfalls of Facebook Advertising: a Genetic Counselor's Perspective.

Facebook advertising is a powerful tool for increasing the outreach and recruitment of research participants. We describe our experience as genetic counselors within the context of an internet-based research study, recruiting subjects for a Parkinson disease (PD) biomarker study.