Genome Sequencing in the Parkinson Disease Clinic
Emily J. Hill, Laurie Robak, Rami Al‐Ouran, Jennifer Deger, Jamie Fong, Paul J. Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, HarshaVardhan Doddapaneni, Sejal Salvi, Shannon Dugan‐Perez, Donna M. Muzny, Amy L. McGuire, Zhandong Liu, Richard A. Gibbs, Chad A. Shaw, Joseph Jankovic, Lisa M. Shulman, Joshua Shulman
Abstract
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: ). Results: 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.