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MDS 2021 | Genetic testing for Parkinson’s disease in clinical practice

Oscar Gershanik, MD, Favaloro University, Buenos Aires, Argentina, discusses how genetic information in Parkinson’s disease (PD) is currently used in clinical practice. To date, genetic testing for PD has not been widely used in clinical practice. Since the discovery of GBA- and LRRK2-associated PD as common monogenic forms of disease, the pathogenic mechanisms and phenotypic implications of mutations in these genes have been widely studied. Genotype-phenotype relations have been established and thus, detection of these mutations can be useful to guide management. Additionally, identifying these mutations is a prerequisite for participation in clinical trials looking at agents specifically designed to target these genetic forms of PD. Identifying rarer monogenic causes of PD can be much more challenging. Prof. Gershanik highlights practical barriers that are currently hindering the implementation of widespread genetic testing. This interview took place during the 2021 International Congress of Parkinson’s Disease and Movement Disorders.