Objective: To better understand access to genetic testing at the international level.

Background: One of the objectives of the Rare Diseases Study Group (RDSG) of the International Parkinson Disease and Movement Disorder Society (IPMDS) is to improve the diagnosis and management of rare movement disorders

Method: We conducted an observational, cross-sectional study. Members of the RDSG designed a 21-question on-line survey, which was electronically mailed to all 7815 members affiliated with IPMDS.

Results: 1269 surveys (=16% response rate; 93.0% fully completed) were received from 109 countries. 53.8% of respondents reported > 10 years in clinical practice. 45.4% of respondents identified themselves as movement disorders specialists or consultants. Almost 90% of respondents were primarily involved in clinical care. Patients were found to have 10 times less access to a movement disorder specialist or a pediatric neurologist than a general physician and 25-33 times less access to a genetic specialist. Access to specific tests (whole exome sequencing and genetic panels for Parkinsonism, dystonia, ataxia and other disorders) were limited and considered unaffordable for 35-40% of respondents. Genetic tests for ataxias and Huntington’s disease were the most commonly available tests at the respondents’ home institutions (available to 40%-43%, respectively). For other tests [HD-like, metabolic disorders, etc.] average availability was 26%. Most genetic tests were provided by universities and academic centers (52.8%), followed by private institutions (40.8%), and government or public institutions (36%) with some overlap in resources.  The cost of testing was reported to be covered by patients (65.4%), government or public health insurance (55.8%), and private health insurance companies (33.7%). A national network for genetic testing was reported by only 36.7%;   >60% of respondents answered that they were not aware of an international agreement for genetic testing.

Conclusion: Despite limitations, this survey is an initiative to highlight the major global challenges and disparities, not only for the availability of genetic testing, but also for access to movement disorders specialists and genetic clinics for movement disorders.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/mds-rare-movement-disorders-study-group-global-genetic-testing-survey-exploring-the-unmet-needs/