EHR-based Genomic Discovery and Implementation (Pediatric Participants Supplement)

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PROJECT SUMMARY In this supplemental application we propose to build on our work in eMERGE IV to recruit an additional 250 adolescents who will undergo genomic testing in a CLIA laboratory (Broad). Thus, the pediatric study cohort at Mayo will comprise a total of 350 adolescent participants attending the community pediatric and adolescent medicine clinic and local schools. We will estimate polygenic risk scores (PRSs) for 4 diseases that pose a significant public health burden including asthma, obesity, type 1 diabetes, and type 2 diabetes. DNA will be sent for CLIA-certified genomic testing, and we will calculate candidate loci or genome wide PRS using novel methods to adapt these to specific genetic ancestry groups. Validated PRS will be combined with family history and clinical risk scores to create comprehensive risk profiles that will be reported to participants and providers and placed in the electronic health record (EHR) with linkage to clinical decision support (CDS) that includes guideline-based risk-management information. For participants who are at significantly higher risk for developing at least 1 of the 4 diseases, results will be disclosed in-person followed by assessment of outcomes including new tests ordered, risk reduction measures, and changes in modifiable risk factors. Our focus on PRS brings genomic medicine to the population. Our specific aims include: 1) Recruit 250 additional adolescent participants (total n=350) who will undergo genomic testing for PRS in a CLIA laboratory; 2) Integrate PRS in the EHR with linkage to CDS that incorporates recommendations for healthcare providers and develop scalable methods for disclosing PRS results to participants; 3) Estimate PRS for 4 diseases in 350 adolescent participants and compute comprehensive risk profiles (that include PRS) for return to participants; 4) Assess outcomes following return of results.