The commercial genetic testing landscape for Parkinson's disease
Lola Cook, Jeanine Schulze, Jennifer Verbrugge, James C. Beck, Karen Marder, Rachel Saunders‐Pullman, Christine Klein, Anna Naito, Roy N. Alcalay, Alexis Brice, Amasi Kumeh, Andrew B. West, Andrew Singleton, Anna Naito, Birgitt Schüle, Brian Fiske, Carolin Gabbert, Christine Klein, Connie Marras, Cornelis Blauwendraat, Courtney Thaxton, Dario R. Alessi, David W. Craig, Edward A. Fon, Emily K. Forbes, Enza Maria Valente, Esther Sammler, Gill Chao, Giulietta Riboldi, Houda Zghal Elloumi, Ignácio F. Mata, James C. Beck, Jamie Fong, Jean‐Christophe Corvol, Jeanine Schulze, Jennifer Verbrugge, Joshua Shulman, Judith Peterschmitt, Karen Marder, Katja Lohmann, Kelly Nudelman, Lara M. Lange, Lola Cook, Mark Cookson, Martha Nance, Matthew J. Farrer, Melina Grigorian, Michael A. Schwarzschild, Niccolò E. Mencacci, Owen A. Ross, Pramod K. Mistry, Priscila D. Hodges, Rachel Blake, Rachel Saunders‐Pullman, Roy N. Alcalay, S. Pablo Sardi, Sali M.K. Farhan, Samuel P. Strom, Shalini Padmanabhan, Shruthi Mohan, Simonne Longerich, Susanne A. Schneider, Suzanne Lesage, Tanya Bardakjian, Tatiana Foroud, Thomas Courtin, Thomas F. Tropea, Yunlong Liu, Ziv Gan‐Or, Ali Shalash, Anne Hall, Avner Thaler, Carolyn M. Sue, Christine Klein, Deborah Mascalzoni, Deborah Raymond, Emilia Gatto, Gian Pal, Inke R. König, Ivana Novaković, Karen Marder, Marcelo Merello, Mehri Salari, Niccolò E. Mencacci, Nobutaka Hattori, Oksana Suchowersky, Rachel Saunders‐Pullman, Roy N. Alcalay, Soraya Bardien, Sun Ju Chung, Tatiana Foroud, T. Simuni, Timothy Lynch, Vincenzo Bonifati
Abstract
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.