Objective: To overcome access barriers to genetic testing and address the paucity of knowledge regarding genetic causes of PD among Hawaii’s racial and ethnic groups.

Background: Parkinson’s is a complex disease with both genetic and environmental causes. Hereditary causes of PD may result from monogenic mutations in several identified pathogenic genes. While only 5%-10% of PD patients carry these variants, these numbers may not reflect the reality. Due to lack of awareness and high cost, only a small fraction of patients receives genetic testing. Overcoming these barriers will not only further our understanding of genetics contribution to PD, but also pave the way to advancing science and providing better care to patients living with this incurable disease.

Method: Sponsored by the Parkinson’s Foundation, PD Generation is a multi-center, observational study offering genetic testing of seven most common PD-linked pathogenic genes, at no cost to subjects. As a study site, we enrolled participants from the diverse and understudied population of Hawaii. Here, we have analyzed our cohort of tested participants between November 2023 and March 2025.

Results: From a total of 299 participants, 6.35% tested positive for a genetic variant. This is lower than the global prevalence reported by the PD Generation study as of June 2023. No significant difference was found in racial distribution between the negative and positive cases. We found that while the incidence of PD is higher in men (61% vs. 36% female), 63% of positives were female (p<0.05). We also report a significantly higher incidence of genetic variant carriers among Hispanic/Latino group, and subjects with early onset. Of the seven genes, GBA variant was the most common among positives, similar to previously reported. We detected this variant in White and Asians but not in any of the NHPI cases. Additionally, one subject of a Hispanic descent tested positive for the rare SNCA variant. While this subject had all three high risk factors of developing PD (young onset, Basque ancestry and family history of PD), SNCA variant has not been reported so far in the Basque population.

Conclusion: Our preliminary analysis shows that genetic risk factors may vary in prevalence and type in Hawaii’s population compared to previously studied majority White cohorts. More data is needed to better our understanding of PD risk and onset in the understudied minority groups.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-variants-detection-and-prevalence-in-hawaiis-diverse-pd-population/