Survey Finds Barriers to Access, Availability of Genetic Testing for Parkinson Disease


Data were collected from the MDS’s membership worldwide, assessing current practices, concerns, and barriers to genetic testing.

Maggie Markgraf, BSc, clinical research coordinator, Mount Sinai Health System

Maggie Markgraf, BSc

Data presented at The International Parkinson and Movement Disorders (MDS) Society Virtual Congress 2021, September 17-22, found that genetic testing resources and counseling for patients with Parkinson disease (PD) among the international MDS membership was incomplete, with several barriers when referring patients for genetic testing.

Investigators received a total of 568 responses after sending out survey links to approximately 8858 MDS members, with 400 members completing all questions. The survey was a 52-item multiple choice questionnaire pertaining to availability and perceived barriers to genetic testing and counseling for PD. Respondents were from varying regions, including Africa (11%), Asia/Oceania (25%), Europe (32%), and Pan-America (32%); as well as of different professions, including movement specialists (52%, n = 295), general neurologists (31.2%, n = 177), non-MD health professionals (5.1%, n = 10), a genetic counselor (0.2%, n = 1), and other (11.5%, n = 65).

Presenting the survey findings, Maggie Markgraf, BSc, clinical research coordinator, Mount Sinai Health System, discussed perceived barriers to testing. Data suggest the largest barriers to testing for clinicians were cost (57%), lack of genetic counseling availability (37%), time for testing (20%) or for counseling (17%), and knowledge (14%). A total of 8.5% of respondents indicated no barriers, while others noted lack of therapeutic consequences and low yield of positive tests. According to Markgraf, there was a broad diversity in type and availability in genetic counseling across regions, with MDS members citing the need for additional genetic counseling, as well as education about the importance of genetic counseling. 

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When perceiving the barriers for patients, clinicians asserted that the largest barriers to testing were associated cost (65%), limited knowledge about genetics (43%), lack of access to genetic counseling (34%), and lack of access separate from cost (30%). Additional barriers were noted as patients fears of discrimination and difficulty obtaining insurance, as well as a lack of actionable information. 

Type of testing included single, specific gene (41%; n = 193), panel (53%; n = 249), whole exome sequencing (30%; n= 140), and whole genome sequencing (15%; n = 70). According to survey results, 42.5% (n = 167) of respondents were not comfortable with performing genetic counseling. 

The survey further inquired about the current landscape of symptomatic testing, with respondents stating that tests were either accessible to general neurologists (31.6%; n = 149), restricted to select centers (54.4%; n = 256), or not available in their country (14.0%; n = 66). High availability was reported by respondents in Europe (45%), Pan-America (19%), and Asia/Oceania (29%), while a majority of those in Africa reported low availability (62.2%). When testing is performed, respondents reported it was performed by neurologists (52%), medical geneticists (30%), or genetic counselors (54%). 

The online survey was sent out to the international MDS membership through Survey Monkey, having been developed by the Task Force on Recommendations for Clinical Genetic Testing in Parkinson’s Disease, and will be used in partnership with a separate literature review.

“The survey focused on highly specialized groups, and there is likely participation bias towards those more likely to send testing,” Markgraf said when discussing limitations during her presentation. “[The survey] may have been too lengthy and at time forced question responses, even if testing is not available at the site.” 

Markgraf further noted that not all data was presented, namely those that were ethical and regulatory. Data is currently under review by the Task Force to develop efforts for patient education and education on genetic counseling.

For more coverage of MDS 2021, click here.

Saunders-Pullman R, Klein C, Markgraf M, et al. MDS survey of genetic testing and counseling practices for Parkinson disease. Presented at MDS Congress 2021; September 17-22; Virtual. Poster LBA 4.
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