TY - JOUR
T1 - The commercial genetic testing landscape for Parkinson's disease
AU - ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease
AU - Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors
AU - Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors
AU - Cook, Lola
AU - Schulze, Jeanine
AU - Verbrugge, Jennifer
AU - Beck, James C.
AU - Marder, Karen S.
AU - Saunders-Pullman, Rachel
AU - Klein, Christine
AU - Naito, Anna
AU - Alcalay, Roy N.
AU - Brice, Alexis
AU - Kumeh, Amasi
AU - West, Andrew B.
AU - Singleton, Andrew
AU - Schüle, Birgitt
AU - Fiske, Brian
AU - Gabbert, Carolin
AU - Marras, Connie
AU - Blauwendraat, Cornelis
AU - Thaxton, Courtney
AU - Alessi, Dario
AU - Craig, David
AU - Fon, Edward A.
AU - Forbes, Emily
AU - Valente, Enza Maria
AU - Sammler, Esther
AU - Chao, Gill
AU - Riboldi, Giulietta
AU - Elloumi, Houda Zghal
AU - Mata, Ignacio
AU - Fong, Jamie C.
AU - Corvol, Jean Christophe
AU - Shulman, Joshua
AU - Peterschmitt, Judith
AU - Marder, Karen
AU - Lohmann, Katja
AU - Nudelman, Kelly
AU - Lange, Lara
AU - Cookson, Mark R.
AU - Nance, Martha
AU - Farrer, Matthew
AU - Grigorian, Melina
AU - Schwarzschild, Michael A.
AU - Mencacci, Niccolo
AU - Ross, Owen
AU - Mistry, Pramod
AU - Hodges, Priscila
AU - Blake, Rachel
AU - Sardi, S. Pablo
AU - Farhan, Sali
AU - Thaler, Avner
N1 - Publisher Copyright:
© 2021 The Author(s)
PY - 2021/11
Y1 - 2021/11
N2 - Introduction: There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation. Methods: The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally. Results: We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial. Conclusion: There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.
AB - Introduction: There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation. Methods: The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally. Results: We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial. Conclusion: There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.
KW - Clinical laboratories
KW - Genetic testing
KW - Multi-gene panels
KW - Parkinson's disease
UR - https://www.scopus.com/pages/publications/85122488125
U2 - 10.1016/j.parkreldis.2021.10.001
DO - 10.1016/j.parkreldis.2021.10.001
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C2 - 34696975
AN - SCOPUS:85122488125
SN - 1353-8020
VL - 92
SP - 107
EP - 111
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -