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Change in movement disorder specialist attitudes to genetic testing after implementation of PD GENEration

Wang, J. E.; Ibrahim, V.; Alcalay, R. N.; Agin-Liebes, J. P.; Nance, M.; Beck, J. C.; Caulfield, M. E.; Naito, A.; Ghosh Galvelis, K.; Wills, A.-M.

2025-07-29 genetic and genomic medicine
10.1101/2025.07.29.25332392 medRxiv
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PurposeDespite advances in recent years, genetic testing for Parkinsons disease (PD) is still underutilized in clinical practice. A 2019 questionnaire of movement disorder specialists found low rates of genetic testing in PD and barriers such as cost and insurance coverage. Since that time, PD GENEration as well as several international programs have broadly increased access to genetic testing and counseling for people with PD. A new survey sent out in 2024 examined how genetic testing for PD has changed over the past 5 years. MethodsBetween October 2024-January 2025, 621 movement disorders specialists from the Parkinsons Study Group (PSG) were invited by email to complete a questionnaire assessing knowledge, attitudes, and barriers to genetic testing in PD based on the 2019 survey. Results119 total PSG clinicians from the United States and Canada responded to the questionnaire. When compared to results from 2019, 2024 survey respondents reported increased comfort and willingness to order genetic testing, including reduced fears of negative repercussions. PD GENEration-affiliated sites reported significantly higher genetic testing volume and patients with known genetic variants. Conclusions2024 survey respondents report greater comfort with genetic testing in PD compared to 2019, concurrent with the launch of PD GENEration.

Published in Genetics in Medicine Open · training set

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