Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.

Alcalay RN1, Kehoe C2, Shorr E2, Battista R3, Hall A4, Simuni T5, Marder K2,6,7, Wills AM8, Naito A9, Beck JC9, Schwarzschild MA8, Nance M10.

Author information

1: Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. rna2104@cumc.columbia.edu.
2: Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
3: University of Rochester, Center for Health and Technology, Rochester, NY, USA.
4: Duke University, Clinical Trial Transformation Initiative (CTTI), FDA-CTTI Patient Engagement Collaborative, Durham, NC, USA.
5: Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
6: Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA.
7: Columbia University Irving Medical Center, Sergievsky Center and Taub Institute, New York, NY, USA.
8: Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
9: Parkinson's Foundation, New York, NY, USA.
10: Struthers Parkinson's Center, Golden Valley, MN, USA.

Abstract

PURPOSE:

Genetic testing for Parkinson disease (PD) has not been widely used in clinical practice. In preparation for upcoming precision medicine-designed clinical trials for GBA and LRRK2, we evaluated movement disorders specialists' current practice, knowledge, attitudes, and barriers to genetic testing in PD.

METHODS:

An anonymous questionnaire was sent to movement disorders specialists at 146 Parkinson Study Group (PSG) sites in the United States (n = 131) and Canada (n = 15) to assess their knowledge and attitudes about genetic testing for PD.

RESULTS:

One hundred seventy-eight (47.6%) PSG clinicians completed the questionnaire. Forty-one percent of respondents had not referred any PD patients for genetic testing in the last year and >80% reported referring fewer than 11 patients over the same period. Most common reasons for not referring for genetic testing included lack of insurance coverage/cost to the patient and lack of perceived utility. On a scale of 0-100, the mean level of comfort in respondents' own ability to genetically counsel PD patients on GBA and LRRK2 was 52 (SD = 28). Sixty percent of clinicians correctly answered all questions about the inheritance and penetrance of GBA and LRRK2 variants.