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.

Transitioning to telegenetics in the COVID‐19 era: Patient satisfaction with remote genetic counseling in adult neurology

“…In March 2020, the United States recognized the outbreak of the SARS‐CoV‐2 virus, known as the coronavirus disease 2019 (COVID‐19) pandemic. Prior to the pandemic, there were reports of remote services being implemented and studied in neurology, neurogenetics, and genetic counseling (Achey et al., 2014 ; Alcalay et al., 2020 ; Cohen et al., 2016 ; Ekeland et al., 2010 ; Greenberg et al., 2020 ; Hilgart et al., 2012 ; Kane & Gillis, 2018 ; Mitchell & Demiris, 2005 ). Remote services have been described by the terms teleneurology, telemedicine, and telehealth (Achey et al., 2014 ; Alani, 2020 ; Alcalay et al., 2020 ; Cheney, 2020 ; Eberly et al., 2020 ; Ekeland et al., 2010 ; Kane & Gillis, 2018 ; Parmanto et al., 2016 ; Spindler et al., 2020 ; Wilkinson et al., 2016 ).…”

“…Prior to the pandemic, there were reports of remote services being implemented and studied in neurology, neurogenetics, and genetic counseling (Achey et al., 2014 ; Alcalay et al., 2020 ; Cohen et al., 2016 ; Ekeland et al., 2010 ; Greenberg et al., 2020 ; Hilgart et al., 2012 ; Kane & Gillis, 2018 ; Mitchell & Demiris, 2005 ). Remote services have been described by the terms teleneurology, telemedicine, and telehealth (Achey et al., 2014 ; Alani, 2020 ; Alcalay et al., 2020 ; Cheney, 2020 ; Eberly et al., 2020 ; Ekeland et al., 2010 ; Kane & Gillis, 2018 ; Parmanto et al., 2016 ; Spindler et al., 2020 ; Wilkinson et al., 2016 ). In genetic counseling, the remote service delivery models have been defined as either ‘telephone genetic counseling’ for a session about a new indication conducted entirely via telephone, or ‘telegenetics’ for a web‐based videoconferencing or telemedicine genetic counseling visit (Cohen et al., 2012 ).…”

The commercial genetic testing landscape for Parkinson's disease

“…Recent work has found that movement disorder specialists are not widely offering genetic testing to their patients with PD. A key reason cited by neurologists for this reduced utilization was the confusion surrounding genetic testing [16]. Further, the impact of negative results on test utility and interpretation for genetic counseling are markedly different if five versus more than 60 genes are tested.…”

Genome sequencing in the Parkinson’s disease clinic

“…[21][22][23] Besides potential barriers for reimbursement, many neurologists feel poorly prepared to provide counseling to patients regarding results. 24 In addition, other issues that may arise from comprehensive testing using genome sequencing have not been fully explored, such as disclosure of genetic risk scores or potential discovery of medically actionable findings unrelated to PD diagnosis. In order to address these gaps, it is essential to document not only the spectrum of genetic findings that would be expected in clinical practice, but also the possible reactions of patients to such results.…”