Providing genetic testing and genetic counseling for Parkinson's disease to the community.

PURPOSE: To evaluate the feasibility and impact of offering genetic testing and counseling to patients with Parkinson's disease (PD), with the potential to enroll in gene-targeted clinical trials and improve clinical care. METHODS: A multicenter, exploratory pilot study at 7 academic hospital sites in the United States tracked enrollment and randomized participants to receive results and genetic counseling at local sites or by genetic counselors, remotely. Follow-up surveys measured participant/provider satisfaction, knowledge, and psychological impact. RESULTS: From September 5, 2019 to January 4, 2021, 620 participants were enrolled and 387 completed outcome surveys. There were no significant differences in outcomes between local and remote sites, with both arms reporting high knowledge and satisfaction scores (>80%). Notably, 16% of those tested had reportable PD gene variants (pathogenic/likely pathogenic/risk allele). CONCLUSION: Local clinicians, as well as genetic counselors, with educational support as needed, can effectively return genetic results for PD as we observed favorable outcome measures in both groups. Increasing access to PD genetic testing and counseling is urgent; this can inform future efforts to integrate genetic testing and counseling into clinical care for all those with PD.

Dementia consults: predictors of compliance by primary care physicians.

This study was designed to determine rates of primary care physician compliance with recommendations made by physician-consultants at an Alzheimer's disease center. A mail survey was sent to primary care physicians, who were asked to indicate which recommendations had been implemented and to select reasons for lack of adherence. The response rate was 53 percent (49/92). Some 83 percent of recommendations were implemented. Compliance with medical recommendations was higher (87 percent) than with social or behavioral issues (69 percent). Reasons for noncompliance indicated that patient or family barriers were responsible in 48 percent of cases, while physicians were responsible in 24 percent. These findings validate the development of two educational programs: curricula that support the primary care physician in conveying the value of these interventions and guidelines to assist specialists in communicating treatment recommendations.