Objective: To characterize the Peruvian Parkinson’s disease (PD) cohort within the Latin American Research Consortium on the GEnetics of Parkinson Disease (LARGE-PD) that received a CLIA-certified genetic testing and counseling through the PD GENEration study.

Background: Since 2007, the Peruvian LARGE-PD case-control study has recruited over 1,214 individuals diagnosed with PD. Although prior research findings with potential clinical relevance have been disclosed to participants in accordance with informed consent (IC) protocols, access to certified genetic testing has remained unavailable. The PD GENEration study provides the opportunity for both retrospectively and prospectively enrolled research participants affected with PD to receive results from a certified laboratory.

Method: Participants with PD from the Peruvian LARGE-PD cohort, including both previously enrolled and newly recruited participants, were invited to undergo certified genetic testing. The study protocol included IC, pre-test genetic counseling, a demographic questionnaire, blood sample collection, and post-test counseling for results disclosure. Whole-genome sequencing analyzing seven PD-associated genes (GBA1, SNCA, PRKN, PINK1, LRRK2, VPS35, and PINK7), and reporting pathogenic and likely pathogenic variants. Variants outside of this gene panel were not analyzed or reported in this phase of the study.

Results: A total of 154 participants (44.81% female) were enrolled in the study, and about 30% of participants have received their results through a genetic counseling session. The mean age at PD onset was 54 ± 15 years [Table 1]. Pathogenic or likely pathogenic variants were identified in 9.7% of cases [Imagen 1], with GBA1 (50%,6) and PRKN (33.3%,4) being the most frequently identified, along with variants in SNCA and PINK1 [Imagen 2].  Genetic counseling sessions included topics related to the implications of genetic findings for disease management and risk management for family members.

Conclusion: Based on these preliminary findings, the disclosure of CLIA certified genetic results within the Peruvian LARGE-PD population cohort has been successfully delivered identifying pathogenic and likely pathogenic variants in GBA1, PRKN, SNCA, and PINK1. As we increase the sample size, we will be able to fully evaluate the impact of these results on individuals living with PD and their families.

Table 1

Imagen 1

Imagen 2

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MDS Abstracts - https://www.mdsabstracts.org/abstract/disclosing-clia-certified-genetic-results-within-the-large-pd-cohort-in-peru-preliminary-results-of-the-pd-generation-study/