{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cook L"],"funding":["Parkinson's Foundation","NIA NIH HHS","NINDS NIH HHS","Parkinson’s Foundation"],"pagination":["2668-2679"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11292896"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["147(8)"],"pubmed_abstract":["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, o"],"journal":["Brain : a journal of neurology"],"pubmed_title":["Parkinson's disease variant detection and disclosure: PD GENEration, a North American study."],"pmcid":["PMC11292896"],"funding_grant_id":["P30 AG066518","P30 AG072979","K08 NS131581"],"pubmed_authors":["Marder KS","Singer C","Strom SP","Carbonell J","Rao SC","Mencacci NE","Blauwendraat C","Wills AM","Meng Y","Bressman S","Alcalay RN","Schwantes-An TH","Litvan I","Nance MA","Simuni T","Cruz Vicioso R","Katus L","Ghosh Galvelis K","Hall A","Shill HA","Lohmann K","Hodges PD","Foroud T","Mata IF","Lyons KE","Verbrugge J","Cook L","Quinn JF","Schwarzschild MA","Casaceli C","Beck JC","Naito A","Schulze J","Fernandez HH","Tropea TF","Vanegas Arroyave N"],"additional_accession":[]},"is_claimable":false,"name":"Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.","description":"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, o","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Aug","modification":"2026-06-23T03:13:44.078Z","creation":"2025-02-19T02:27:20.835Z"},"accession":"S-EPMC11292896","cross_references":{"pubmed":["39074992"],"doi":["10.1093/brain/awae142"]}}