Utilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics Healthcare

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ABSTRACT This program is focused on validating and implementing polygenic risk scores (PRS) to 750 participants at the Children’s Hospital of Philadelphia. Under the parent eMERGE program, CHOP established an efficient enrollment, engagement, and retention protocol that includes targeted recruitment, enhanced communication with participants and healthcare professionals, boosted analysis and EMR integration, and a dynamic education program focusing on AAs in order to achieve long-term success and improved health outcomes. The program is already returning risk reports to the EMR, exploring relevant ethical, legal, and social implications (ELSI), and investigating a range of important outcomes post-return-of-results. CHOP is on target to meet all its major milestones, with the requisite programmatic infrastructure fully operational. Building on these successes, we propose a range of sub-projects to supplement the existing scientific agenda. 1. Recruit and engage 750 additional participants (>75% minority/underserved): To date, 74% of the 847 participants recruited to CHOP are from minority/underserved populations, primarily AAs. We aim to expand the program across additional clinics, all of which would be managed under the existing infrastructure. We will return genomic risk estimates to all 750 additional participants and assess healthcare outcomes across key disease areas and collect relevant data and assess outcomes for both patients and providers. 2. Examine ethical, legal, and social implications (ELSI) of return of genomic risk estimates: Qualitative interviews will explore reactions to receiving a risk report incorporating polygenic risk scores among both parents of pediatric participants and participants over 18 years of age. Primary outcomes will be the identification of themes related to the perception of 1) self-esteem and body image; 2) stigma; and 3) behavior change, and barriers, corresponding to recommendations for the management of disease risk. 3. Assess actions and interactions between pediatric primary care providers (PCP) and parents of pediatric patients who received a high-risk GIRA: Through semi-structured interviews of PCPs, we will be empowered to assess the effectiveness of the GIRA return and CDS in supporting the provider in clinical practice including communication with parents/caregivers. This will provide a detailed analysis of the impact of EMR-based interventions on patients and providers in the pediatric context, supplementing existing Network-wide efforts to capture quantitative outcomes with novel qualitative data.