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Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.
Alcalay, Roy N; Kehoe, Caitlin; Shorr, Evan; Battista, Roseanna; Hall, Anne; Simuni, Tanya; Marder, Karen; Wills, Anne-Marie; Naito, Anna; Beck, James C; Schwarzschild, Michael A; Nance, Martha.
Afiliación
  • Alcalay RN; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA. rna2104@cumc.columbia.edu.
  • Kehoe C; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
  • Shorr E; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
  • Battista R; University of Rochester, Center for Health and Technology, Rochester, NY, USA.
  • Hall A; Parkinson's Foundation, New York, NY, USA.
  • Simuni T; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Marder K; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
  • Wills AM; Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA.
  • Naito A; Columbia University Irving Medical Center, Sergievsky Center and Taub Institute, New York, NY, USA.
  • Beck JC; Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Schwarzschild MA; Parkinson's Foundation, New York, NY, USA.
  • Nance M; Parkinson's Foundation, New York, NY, USA.
Genet Med ; 22(3): 574-580, 2020 03.
Article en En | MEDLINE | ID: mdl-31680121
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Pruebas Genéticas / Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina / Glucosilceramidasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Pruebas Genéticas / Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina / Glucosilceramidasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos