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Genet Med. 2019 Nov 4. doi: 10.1038/s41436-019-0684-x. [Epub ahead of print]

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

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
Parkinson's Foundation, New York, NY, 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
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.

CONCLUSIONS:

There is an urgent need to increase knowledge and reduce practical barriers to genetic counseling and testing in PD.

KEYWORDS:

GBA; LRRK2; Parkinson disease; genetic testing; questionnaire

PMID:
31680121
DOI:
10.1038/s41436-019-0684-x

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