Abstract Details

Title Implementing Whole Gene Sequencing and Genetic Counseling Internationally for People with Parkinson’s Disease: The PD GENEration Experience

Topic Movement Disorders

Presentation(s) P3 - Poster Session 3 (11:45 AM-12:45 PM)

Poster/Presentation
Number 5-007

Objective Provide clinical whole genome sequencing (WGS) and genetic counseling to a diverse and international population of people living with Parkinson’s disease (PD).

Background The PD GENEration study (NCT04994015), sponsored by the Parkinson's Foundation in partnership with the Global Parkinson’s Genetics Program (GP2), now offers WGS with genetic counseling and return of results to broad populations of people living with PD (PwP) in over 8 countries in the Americas and Israel. Testing includes a panel of 7 PD associated genes linked to parkinsonism and an additional 21 genes that may be linked to parkinsonisms or Parkinson’s disease.

Design/Methods In preparation for providing WGS and genetic counseling internationally, PD GENEration partnered with a multi-center collaboration across Latin America (the Latin American Research consortium on the GEnetics of Parkinson's Disease – LARGE-PD), connected with sites in Canada and Israel, and adapted genetic counseling materials developed in the US in English and Spanish for use in other jurisdictions, taking into account each country’s infrastructure, cultural differences and genetic counseling training needs. A decentralized study model and “train the trainer” methods allowed PD GENEration to interact with other international PD genetics efforts to expand its work internationally.

Results As of October 8, 2024, 1837 participants have enrolled into WGS testing as part of an overall cohort of more than 18,000 PWP enrolled since 2019. The positivity rate of the entire cohort was 12.2%, comprising GBA1 (7.4%), LRRK2 (2.4%), and PRKN (2.4%) pathogenic variants. All genomic sequencing and clinical data will be publicly available through the AMP-PD program.

Conclusions Providing clinical genetic results to an increasingly diverse and international cohort of PwP and their clinicians furthers our goals of: 1) Expanding our understanding of the complex genetics underlying PD, and 2) Facilitating the design and execution of precision medicine trials in PD.

Authors/Disclosures
James Beck, PhD PRESENTER	Dr. Beck has received personal compensation for serving as an employee of Parkinson's Foundation. The institution of Dr. Beck has received research support from NIH, MJFF.
Kamalini Ghosh Galvelis	Mrs. Ghosh Galvelis has nothing to disclose.
Megan Dini, MA (The Parkinson's Foundation)	Mrs. Dini has received personal compensation for serving as an employee of Parkinson's Foundation .
Shilpa Rao, PhD	Dr. Rao has nothing to disclose.
Rebeca De Leon, Clinical researcher	Ms. De Leon has nothing to disclose.
Anny M. Coral-Zambrano	Mrs. Coral-Zambrano has received personal compensation for serving as an employee of Parkinson's Foundation .
Addison Yake	Ms. Yake has received personal compensation for serving as an employee of Parkinson's Foundation.
Lark Caboy, Clinical Research Coordinator	Ms. Caboy has received personal compensation for serving as an employee of Parkinson's Foundation.
Tatiana Foroud, PhD (Indiana University School of Medicine)	The institution of Dr. Foroud has received research support from NIH. The institution of Dr. Foroud has received research support from Michael J. Fox Foundation. The institution of Dr. Foroud has received research support from Parkinson Foundation. Dr. Foroud has received personal compensation in the range of $500-$4,999 for serving as a Member of an Advisory Committee with Mayo Clinic, University of Pennsylvania, Allen Institute, Mt. Sinai, Van Andel Institute.
Rayza P. Delgado Hodges, MS, CGC	Mrs. Delgado Hodges has nothing to disclose.
Laura Heathers, BA, CCRP	Mrs. Heathers has nothing to disclose.
Jennifer Verbrugge (Indiana University School of Medicine)	Jennifer Verbrugge has nothing to disclose.
Lola Cook, MS	Ms. Cook has nothing to disclose.
Michelle Totten	Mrs. Totten has nothing to disclose.
Anne Hall, JD	Ms. Hall has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis . Ms. Hall has received personal compensation in the range of $10,000-$49,999 for serving as a Steering Committee member with Parkinson's Foundation . Ms. Hall has received personal compensation in the range of $500-$4,999 for serving as a Patient Engagement Collaborative member with Clinical Trials Transformation Initiative .
Karen S. Marder, MD, MPH, FAAN (Columbia University)	Dr. Marder has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Marder has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Marder has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Parkinson's Foundation . Dr. Marder has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for CHDI. Dr. Marder has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for PTC therapeutics. Dr. Marder has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Springer LTD. The institution of Dr. Marder has received research support from Vaccinex. The institution of Dr. Marder has received research support from Genentech. The institution of Dr. Marder has received research support from Triplet Therapeutics. The institution of Dr. Marder has received research support from Prilenia.
Ignacio Mata, PhD	The institution of Dr. Mata has received research support from NIH. The institution of Dr. Mata has received research support from ASAP-GP2. The institution of Dr. Mata has received research support from Veterans Affairs Health Care System. The institution of Dr. Mata has received research support from APDA.
Niccolo Mencacci, MD, PhD (Northwestern University)	The institution of Dr. Mencacci has received research support from NIH.
Tanya Simuni, MD, FAAN (Northwestern University Feinberg School of Medicien)	Dr. Simuni has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for cadia, AcureX, Adamas, AskBio, Amneal, Blue Rock Therapeutics, Caraway Therapeutics, Critical Path for Parkinson's Consortium (CPP), Denali, Michael J Fox Foundation, Neuroderm, Sanofi, Sinopia, Roche, Takeda and Vanqua Bio. Dr. Simuni has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for of Koneksa, Neuroderm, Sanofi, UCB, AcureX, Adamas, AskBio, Biohaven, Denali, GAIN, Neuron23 and Roche. Dr. Simuni has received research support from Amneal, Biogen, Neuroderm, Prevail, Roche, and UCB and an investigator for NINDS, MJFF, Parkinson's Foundation.
Martha A. Nance, MD (Park Nicollet Clinic)	Dr. Nance has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Voyager. Dr. Nance has received personal compensation in the range of $500-$4,999 for serving as a Consultant for ROche. Dr. Nance has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Nance has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Uniqure. An immediate family member of Dr. Nance has received stock or an ownership interest from Fresca. The institution of Dr. Nance has received research support from HDSA. The institution of Dr. Nance has received research support from Parkinson Foundation. Dr. Nance has received research support from Parkinson Foundation. The institution of Dr. Nance has received research support from Neuraly. Dr. Nance has received personal compensation in the range of $500-$4,999 for serving as a speaker with AAN.
Michael Schwarzschild, MD, PhD (Massachusetts General Hospital)	The institution of Dr. Schwarzschild has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Bial Biotech (indirectly, as a service of the Parkinson Study Group service). The institution of Dr. Schwarzschild has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen (indirectly, as a service of the Parkinson Study Group service). The institution of Dr. Schwarzschild has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for UCB (indirectly, as a service of the Parkinson Study Group service). Dr. Schwarzschild has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eli Lilly. The institution of Dr. Schwarzschild has received research support from NIH. The institution of Dr. Schwarzschild has received research support from Parkinson's Foundation. The institution of Dr. Schwarzschild has received research support from Michael J Fox Foundation. The institution of Dr. Schwarzschild has received research support from Farmer Family Foundation. Dr. Schwarzschild has a non-compensated relationship as a Chair, Executive Committee with the Parkinson Study Group that is relevant to AAN interests or activities.
Anne Marie A. Wills, MD (MGH)	Dr. Wills has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Accordant, a CVS/Caremark company. Dr. Wills has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi/Genzyme. The institution of Dr. Wills has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ono Pharmaceuticals. The institution of Dr. Wills has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amylyx. Dr. Wills has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Parkinson's Foundation. The institution of Dr. Wills has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amylyx Pharmaceuticals. The institution of Dr. Wills has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ono Pharmaceuticals. The institution of Dr. Wills has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche/Genentech. The institution of Dr. Wills has received research support from Parkinson's Foundation. The institution of Dr. Wills has received research support from Biogen. The institution of Dr. Wills has received research support from Roche/Genentech. The institution of Dr. Wills has received research support from BioSensics.
Sarah W. Lawrence, MS	Mrs. Lawrence has received personal compensation for serving as an employee of Navitas Clinical Research. Mrs. Lawrence has received personal compensation in the range of $500-$4,999 for serving as a Grant Reviewer with Parkinson's Foundation.
penina ponger, MD	Dr. ponger has nothing to disclose.
Cornelis Blauwendraat, PhD	Dr. Blauwendraat has nothing to disclose.
Roy Alcalay, MD (Columbia University)	Dr. Alcalay has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Genzyme/Sanofi. Dr. Alcalay has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Alcalay has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Gain Therapeutics. Dr. Alcalay has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vanqua Bio. Dr. Alcalay has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Takeda. Dr. Alcalay has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biohaven. Dr. Alcalay has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Capsida. Dr. Alcalay has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Servier. The institution of Dr. Alcalay has received research support from Michael J. Fox Foundation. The institution of Dr. Alcalay has received research support from Parkinson's Foundation. The institution of Dr. Alcalay has received research support from Silverstein Foundation. Dr. Alcalay has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant with Parkinson's Foundation.

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