Lola Cook1, Jeanine Schulze2, Anna Naito3, Roy N Alcalay4. 1. Department of Medical and Molecular Genetics/Hereditary Genomics Division, Indiana University School of Medicine, 410 West 10th Street, Indianapolis, IN, 46202-3002, USA. lpcook@iu.edu. 2. Department of Medical and Molecular Genetics/Hereditary Genomics Division, Indiana University School of Medicine, 410 West 10th Street, Indianapolis, IN, 46202-3002, USA. 3. Parkinson's Foundation, Miami, FL, USA. 4. Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
Abstract
PURPOSE OF REVIEW: To describe current practices and attitudes about genetic testing for Parkinson's disease (PD) among neurologists, highlight the changing scene of genetic testing for PD, and provide guidance on facilitating PD genetic testing in a clinical practice. RECENT FINDINGS: Since the 1990s, researchers have discovered several major gene variants contributing to PD etiology. A large body of literature now exists supporting the frequency of these variants in different populations and their effects on phenotype and clinical course. Recently, clinical trials have emerged with therapies targeting genetic forms of PD, specifically LRRK2 and GBA. Despite this growing knowledge, genetic testing for PD is not typically offered by neurologists including movement disorder specialists. Neurologists express concerns about the financial and practical issues of genetic testing as well as the potential impact on their patients. Researchers and specialists in the field are questioning this hesitation as clinical utility and consumer demand increase. Consideration of genetic testing for PD is shifting, as we enter a new era of precision medicine and gain clinical knowledge about PD. Barriers to testing, as perceived by clinicians, can be overcome with education, support, and involvement of multiple stakeholders with the goal of making PD genetic testing accessible to all patients.
PURPOSE OF REVIEW: To describe current practices and attitudes about genetic testing for Parkinson's disease (PD) among neurologists, highlight the changing scene of genetic testing for PD, and provide guidance on facilitating PD genetic testing in a clinical practice. RECENT FINDINGS: Since the 1990s, researchers have discovered several major gene variants contributing to PD etiology. A large body of literature now exists supporting the frequency of these variants in different populations and their effects on phenotype and clinical course. Recently, clinical trials have emerged with therapies targeting genetic forms of PD, specifically LRRK2 and GBA. Despite this growing knowledge, genetic testing for PD is not typically offered by neurologists including movement disorder specialists. Neurologists express concerns about the financial and practical issues of genetic testing as well as the potential impact on their patients. Researchers and specialists in the field are questioning this hesitation as clinical utility and consumer demand increase. Consideration of genetic testing for PD is shifting, as we enter a new era of precision medicine and gain clinical knowledge about PD. Barriers to testing, as perceived by clinicians, can be overcome with education, support, and involvement of multiple stakeholders with the goal of making PD genetic testing accessible to all patients.
Entities:
Keywords:
Genetic counseling; Genetic testing; Parkinson’s disease; Precision medicine
Authors: Lars Tönges; Carsten Buhmann; Stephan Klebe; Jochen Klucken; Eun Hae Kwon; Thomas Müller; David J Pedrosa; Nils Schröter; Peter Riederer; Paul Lingor Journal: J Neural Transm (Vienna) Date: 2022-04-15 Impact factor: 3.850