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


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.

SUBMITTER: Alcalay RN 

PROVIDER: S-EPMC7056638 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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

Alcalay Roy N RN   Kehoe Caitlin C   Shorr Evan E   Battista Roseanna R   Hall Anne A   Simuni Tanya T   Marder Karen K   Wills Anne-Marie AM   Naito Anna A   Beck James C JC   Schwarzschild Michael A MA   Nance Martha M  

Genetics in medicine : official journal of the American College of Medical Genetics 20191104 3


<h4>Purpose</h4>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.<h4>Methods</h4>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  ...[more]

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