Perspectives of People At-Risk on Parkinson’s Prevention Research

In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson’s disease (PD) and their families. While large PD research consortia are performing widespread genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable. However, research testing may not hold the same standards required from clinical diagnostic laboratories. The absence of universally recognized protocols complicates the establishment of appropriate guidelines. Aiming to develop recommendations on return of research results (RoR) practice within the Global Parkinson’s Genetics Program (GP2), we conducted a global survey to gain insight on GP2 members’ perceptions, practice, readiness, and needs surrounding RoR. GP2 members (n=191), representing 147 institutions and 60 countries across six continents, completed the survey. Access to clinical genetic testing services was significantly higher in high-income countries compared to low– and middle-income countries (96.6% vs. 58.4%), where funding was predominantly covered by patients themselves. While 92.7% of the respondents agreed that genetic research results should be returned, levels of agreement were higher for clinically relevant results relating to pathogenic or likely pathogenic variants in genes known to cause PD or other neurodegenerative diseases. Less than 10% offered separate clinically-accredited genetic testing before returning genetic research results. 48.7% reported having a specific statement on RoR policy in their ethics consent form, while 53.9% collected data on participants’ preferences on RoR prospectively. 24.1% had formal genetic counselling training. Notably, the comfort level in returning incidental genetic findings or returning results to unaffected individuals remains low. Given the differences in resources and training for RoR, as well as ethical and regulatory considerations, tailored approaches are required to ensure equitable access to RoR. Several identified strategies to enhance RoR practices include improving informed consent processes, increasing capacity for genetic counselling including providing counselling toolkits for common genetic variants, broadening access to sustainable clinically-accredited testing, building logistical infrastructure for RoR processes, and continuing public and healthcare education efforts on the important role of genetics in PD.

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Designing the First Trials for Parkinson’s Prevention

Crotty,

Ayer,

Schwarzschild

2024

JPD

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For decades the greatest goal of Parkinson’s disease (PD) research has often been distilled to the discovery of treatments that prevent the disease or its progression. However, until recently only the latter has been realistically pursued through randomized clinical trials of candidate disease-modifying therapy (DMT) conducted on individuals after they received traditional clinical diagnosis of PD (i.e., tertiary prevention trials). Now, in light of major advances in our understanding of the prodromal stages of PD, as well as its genetics and biomarkers, the first secondary prevention trials for PD are beginning. In this review, we take stock of DMT trials to date, summarize the breakthroughs that allow the identification of cohorts at high risk of developing a traditional diagnosis of PD, and describe key design elements of secondary prevention trials and how they depend on the prodromal stage being targeted. These elements address whom to enroll, what interventions to test, and how to measure secondary prevention (i.e., slowed progression during the prodromal stages of PD). Although these design strategies, along with the biological definition, subtype classification, and staging of the disease are evolving, all are driven by continued progress in the underlying science and integrated by a broad motivated community of stakeholders. While considerable methodological challenges remain, opportunities to move clinical trials of DMT to earlier points in the disease process than ever before have begun to unfold, and the prospects for PD prevention are nowtangible.

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Perspectives of People At-Risk on Parkinson’s Prevention Research

Cited by 4 publications

References 90 publications

Concerns with the new biological research criteria for synucleinopathy – Authors' reply

Concerns with the new biological research criteria for synucleinopathy – Authors' reply

Global Perspectives on Returning Genetic Research Results in Parkinson’s Disease

Designing the First Trials for Parkinson’s Prevention

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