PT  - JOURNAL ARTICLE
AU  - Emily J. Hill
AU  - Laurie A. Robak
AU  - Rami Al-Ouran
AU  - Jennifer Deger
AU  - Jamie C. Fong
AU  - Paul Jerrod Vandeventer
AU  - Emily Schulman
AU  - Sindhu Rao
AU  - Hiba Saade
AU  - Joseph M. Savitt
AU  - Rainer von Coelln
AU  - Neeja Desai
AU  - Harshavardhan Doddapaneni
AU  - Sejal Salvi
AU  - Shannon Dugan-Perez
AU  - Donna M. Muzny
AU  - Amy L. McGuire
AU  - Zhandong Liu
AU  - Richard A. Gibbs
AU  - Chad Shaw
AU  - Joseph Jankovic
AU  - Lisa M. Shulman
AU  - Joshua M. Shulman
TI  - Genome Sequencing in the Parkinson Disease Clinic
AID  - 10.1212/NXG.0000000000200002
DP  - 2022 Aug 01
TA  - Neurology Genetics
PG  - e200002
VI  - 8
IP  - 4
4099  - http://ng.neurology.org/content/8/4/e200002.short
4100  - http://ng.neurology.org/content/8/4/e200002.full
SO  - Neurol Genet2022 Aug 01; 8
AB  - Background and Objectives Genetic variants affect both Parkinson disease (PD) risk and manifestations. Although genetic information is of potential interest to patients and clinicians, genetic testing is rarely performed during routine PD clinical care. The goal of this study was to examine interest in comprehensive genetic testing among patients with PD and document reactions to possible findings from genome sequencing in 2 academic movement disorder clinics.Methods In 203 subjects with PD (age = 63 years, 67% male), genome sequencing was performed and filtered using a custom panel, including 49 genes associated with PD, parkinsonism, or related disorders, as well as a 90-variant PD genetic risk score. Based on the results, 231 patients (age = 67 years, 63% male) were surveyed on interest in genetic testing and responses to vignettes covering (1) familial risk of PD (LRRK2); (2) risk of PD dementia (GBA); (3) PD genetic risk score; and (4) secondary, medically actionable variants (BRCA1).Results Genome sequencing revealed a LRRK2 variant in 3% and a GBA risk variant in 10% of our clinical sample. The genetic risk score was normally distributed, identifying 41 subjects with a high risk of PD. Medically actionable findings were discovered in 2 subjects (1%). In our survey, the majority (82%) responded that they would share a LRRK2 variant with relatives. Most registered unchanged or increased interest in testing when confronted with a potential risk for dementia or medically actionable findings, and most (75%) expressed interest in learning their PD genetic risk score.Discussion Our results highlight broad interest in comprehensive genetic testing among patients with PD and may facilitate integration of genome sequencing in clinical practice.ACMG=American College of Medical Genetics and Genomics; HGMD=Human Gene Mutation Database; PD=Parkinson disease; VUS=variants of uncertain significance