eMERGE Administrative Supplement 2025-2026

Children'S Hosp Of Philadelphia, Philadelphia PA

Investigators

Linked publications & trials

Abstract

(Supplement Application): Under the parent program, we assessed and returned polygenic risk scores (PRS) for 3,250 participants at the Children’s Hospital of Philadelphia (CHOP). All participants received a “genome-informed risk assessment” (GIRA) report that includes clinical PRS results in addition to clinical data from self-report and the electronic health record (EHR), family history, and clinical sequencing for a limited number of monogenic risks (adults only). We established a recruitment, engagement, and retention protocol that will include targeted recruitment, enhanced communication with participants and health care professionals, boosted analysis and EHR integration (EHRI), and a dynamic education program in order to achieve long-term success and improved health outcomes. The education program was informed by a study of the ethical, legal, and social implications (ELSI) of return of genomic risk estimates, specifically differences in risk perception and willingness to participate in risk reduction recommendations based on how risk is framed, disease severity, age of onset, and actionability. We successfully worked with the consortium to delineate best practices for returning genomic risk estimates and create an innovative return of results protocol. Our original goal was to recruit and engage 2,500 participants who have not previously received genomic risk information, which we increased to 3,250 – per discussions with the NIH – to offset difficulties among non-CHOP eMERGE sites in recruiting children for the study. To this end, recruitment was successfully accelerated, and this revised target was met. Risk reports from an additional 750 individuals were integrated into the CHOP EHR and made available to research participants through the patient portal (MyCHOP, CHOP’s branded MyChart). CHOP was the only eMERGE site able to return reports directly to the patient portal (MyCHOP) and similarly the only site with fully-implemented and functioning clinical decision support. Working with research analysts with expertise in the CHOP Epic electronic health record system, we developed a novel infrastructure for capturing phenotype data from traditionally under-utilized components of the EHR, including data-access logs, derived from a Clarity database that catalogs interactions between the healthcare practitioner and the Epic system. These includes time-stamped logs of reports viewed and actions taken, which are critical variables/covariates in local and network-wide analyses. The primary activities in this supplement will be 1) incorporation and maintenance of GIRA risk reports in the CHOP EHR integration of risk reports, including CDS with custom best practice advisory for all high-risk results, 2) assessment of the uptake of risk reduction recommendations by patients and physicians following integration of genomic risk estimates into the EHR as CDS. The last reports were returned toward the end of Year 5 and supplemental funding will allow us to assess relevant healthcare outcomes at six and/or twelve months post return for participants.