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

Genet Med. 2020 Mar;22(3):574-580. doi: 10.1038/s41436-019-0684-x. Epub 2019 Nov 4.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Attitude of Health Personnel
  • Canada / epidemiology
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing / standards*
  • Glucosylceramidase / genetics*
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics*
  • Male
  • Mutation / genetics
  • Parkinson Disease / diagnosis
  • Parkinson Disease / epidemiology
  • Parkinson Disease / genetics*
  • Precision Medicine / standards
  • Surveys and Questionnaires
  • United States / epidemiology

Substances

  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • GBA protein, human
  • Glucosylceramidase