Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinson's disease; however, individuals with Parkinson's disease are often unaware of their genetic status since clinical testing is infrequently offered. As a result, genetic information is not incorporated into clinical care, and variant-targeted precision medicine trials struggle to enrol people with Parkinson's disease. Understanding the yield of genetic testing using an established gene panel in a large, geographically diverse North American population would help patients, clinicians, clinical researchers, laboratories and insurers better understand the importance of genetics in approaching Parkinson's disease. PD GENEration is an ongoing multi-centre, observational study (NCT04057794, NCT04994015) offering genetic testing with results disclosure and genetic counselling to those in the US (including Puerto Rico), Canada and the Dominican Republic, through local clinical sites or remotely through self-enrolment. DNA samples are analysed by next-generation sequencing including deletion/duplication analysis (Fulgent Genetics) with targeted testing of seven major Parkinson's disease-related genes. Variants classified as pathogenic/likely pathogenic/risk variants are disclosed to all tested participants by either neurologists or genetic counsellors. Demographic and clinical features are collected at baseline visits. Between September 2019 and June 2023, the study enrolled 10 510 participants across >85 centres, with 8301 having received results. Participants were: 59% male; 86% White, 2% Asian, 4% Black/African American, 9% Hispanic/Latino; mean age 67.4 ± 10.8 years. Reportable genetic variants were observed in 13% of all participants, including 18% of participants with one or more 'high risk factors' for a genetic aetiology: early onset (<50 years), high-risk ancestry (Ashkenazi Jewish/Basque/North African Berber), an affected first-degree relative; and, importantly, in 9.1% of people with none of these risk factors. Reportable variants in GBA1 were identified in 7.7% of all participants; 2.4% in LRRK2; 2.1% in PRKN; 0.1% in SNCA; and 0.2% in PINK1, PARK7 or VPS35 combined. Variants in more than one of the seven genes were identified in 0.4% of participants. Approximately 13% of study participants had a reportable genetic variant, with a 9% yield in people with no high-risk factors. This supports the promotion of universal access to genetic testing for Parkinson's disease, as well as therapeutic trials for GBA1 and LRRK2-related Parkinson's disease.

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.

'If I Knew More I Would Feel Less Worried': Filipino Americans' Attitudes and Knowledge of Genetic Disease, Counseling, and Testing.

INTRODUCTION: The field of genetics is rapidly expanding and people are increasingly utilizing genetic testing and counseling services. However, the current literature on genetic health topics and Filipinos remains limited, as many minority populations are not adequately studied. This study describes Filipino Americans' attitudes and knowledge of genetic disease, genetic testing, and genetic counseling. To address these knowledge gaps and reduce the burden of health disparities, the informational needs of Filipino Americans regarding genetic disease and genetic services must be understood in order to better tailor these services and outreach methods. METHODS: Fifteen semi-structured, qualitative interviews were held with individuals who self-identified as Filipino American between November 2022 and January 2023. Interviews were transcribed and coded using an iterative process. RESULTS: Most participants were familiar with genetic disease and believed that factors such as biology, as well as cultural factors such as upbringing and food, contributed to its development. The majority of participants had previously heard of genetic testing; however, most participants either did not know much or were only familiar with ancestry direct-to-consumer genetic testing (DTC-GT). Most participants had not heard of genetic counseling and those that had heard of genetic counseling before did not understand its purpose. Overall, most participants had a positive attitude toward genetic testing and counseling. Participants identified the benefits of these services including genetic disease prevention, management, and treatment. Participants stressed the importance of educating the Filipino community and shared their ideas for how to implement outreach efforts. DISCUSSION/CONCLUSION: This study found that Filipino Americans generally had a positive outlook on genetic testing and genetic counseling. We propose participant-generated ideas for outreach and education that may help inform future public health efforts that aim to educate this population about genetic disease, testing and counseling.

Mode of delivery preference in prenatal genetic counseling between English- and Spanish-speaking patients at two US medical institutions.

Although Hispanic individuals are at an increased risk for various genetic conditions, they have lower uptake of genetic counseling and genetic testing. Virtual appointments have many advantages that may help Spanish-speaking patients access genetic services more readily. Despite these benefits, there are limitations that may make them less attractive options for these individuals. This study aimed to determine if satisfaction with genetic counseling or mode of delivery preference differs between English- and Spanish-speaking individuals who have had a virtual prenatal genetic counseling session. Participants were recruited from prenatal genetic counseling clinics at Indiana University Health and Eskenazi Hospital. A REDCap survey was sent to all eligible participants. Survey questions included mode of delivery preference for future genetic counseling sessions (virtual versus in-person), the validated Genetic Counseling Satisfaction Scale, and questions inquiring about the importance of various factors affecting mode of delivery preference. Spanish-speaking individuals preferred future visits to be in-person, while English-speaking individuals preferred future visits to be virtual (Fisher's exact p = 0.003). Several factors were associated with these preferences, including waiting time, ability to leave/take off work for an appointment, length of session, childcare arrangements, and people attending the appointment (all p < 0.05). Both language groups reported similar mean satisfaction with the genetic counseling provided during their previous virtual appointments (p = 0.51). This study found that certain aspects of virtual genetic counseling appointments make them less appealing to Spanish-speaking individuals. Making virtual genetic counseling appointments more appealing while continuing to offer in-person appointments may help Spanish-speaking individuals receive necessary genetics services. Continued research into disparities and barriers to telemedicine for Spanish-speaking patients is necessary to increase access to this service delivery model for genetic counseling.

Interpreters' perceptions of culture bumps in genetic counseling.

Culture bump theory provides a practical and goal-oriented framework for addressing cultural differences that can impact communication and patient care. Differences in language and culture, coupled with a lack of knowledge or competency regarding these differences, often contribute to 'culture bumps' between healthcare providers and patients. Interpreters serve the unique role of 'cultural brokers', going beyond bridging the linguistic divide to close cultural gaps. Research from the perspective of interpreters focused on culture bumps and cultural competency within genetic counseling sessions is lacking. We aimed to assess interpreters' experiences with significant 'culture bumps' in genetic counseling sessions, obtain interpreters' perspectives regarding genetic counselors' gaps in cultural competency, and explore interpreters' perceptions of the impact of cultural competency on the genetic counseling sessions. Spanish and Polish interpreters experienced in working in person with genetic counselors were recruited through interpreter supervisors at medical centers, hospitals, and interpreter training and service agencies in the Chicagoland area. Using a semi-structured interview guide, phone interviews were conducted with eligible participants and transcribed verbatim. A codebook was developed between two coders, and inter-rater reliability was assessed (κ = 0.82). Grounded theory was used as a guiding principle to code data. The results of this study revealed significant culture bumps identified by interpreters in genetic counseling sessions in the areas of exchange of information, gender and family dynamics, and incorporation of religious and faith beliefs. Interpreters identified the impact on rapport, both negative and positive, due to gaps and strengths in cultural competency, respectively. These responses offer useful insight for training and providing practicing genetic counselors with tools to promote cultural competency, in order to provide optimal care for patients with limited English proficiency (LEP). Further research is necessary to explore these concepts within other languages and cultures, as well as to determine the most appropriate methods for implementing these suggestions for improvement.