Objective: 1. To improve genetic testing access and diagnostic rates of monogenic Parkinson’s Disease (PD) in Australia.

2. To establish genotype-phenotype correlation to inform personalised treatment and targeted therapies.

3. To assess clinical, personal, and familial utility of genomic testing in PD.

4. To evaluate cost effectiveness of genomic testing in PD.

5. To establish an Australian monogenic PD patient registry, prioritising under-represented populations, for equity of access to future clinical trials.

Background: Genomic testing in large international PD cohorts has identified a monogenic cause in ~14%, with higher rates in early-onset or familial PD. Access to genetic testing for PD is limited in Australia, with no standardised approach. MonoPDAus is a national multi-centre study aiming to improve genetic diagnosis for PD in collaboration with the Australian Parkinson’s Genetic Study(APGS), which has recruited 10,000 patients with PD, and the Global Parkinson’s Genetic Program(GP2), an international consortium investigating the genetic basis of PD.

Method: Participants are recruited via 2 pathways: (1) APGS participants with early-onset and/or familial PD, and (2) direct recruitment through multiple clinical sites. Participants undergo telehealth assessments at baseline, 18, and 36 months; whole-genome sequencing (WGS) through the GP2 Monogenic Network; and questionnaires to assess the utility and acceptability of genomic testing. Genetic results are returned via an established telephone-based genetic counselling service, My Research Results. The cost of a WGS diagnostic approach will be compared to the current standard diagnostic care.

Results: A diverse cohort of 249 individuals has undergone WGS, with 72 analyses completed(40% F, mean age 61.3±13.2 yrs) and 9 cases solved(12.5%) to date(1 LRRK2, 1 ATXN8, 2 PRKN, 5 GBA1). This represents a diagnostic rate of 13.2% in younger onset PD(<50 yrs) and 11.8% in older onset PD(≥50 yrs). Additionally, we found a possible complex PRKN structural variant, which has been referred for long-read sequencing.

Conclusion: MonoPDAus sets the standard for genetic testing of PD in Australia, providing nationwide access through remote clinical assessment and advanced genomic testing to improve diagnostic rates. Achieving a molecular diagnosis in PD is an important step towards personalised management and targeted therapies, with accurate risk information for relatives of patients with monogenic PD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/monogenic-parkinsons-disease-australia-monopdaus-project-update/