Implementation of genome-informed risk assessments for diverse and underrepresented populations: Lessons learned from the eMERGE IV study

Individuals of non-European ancestry have been historically the last to benefit from innovations in genomic research and its clinical implementation. In its fourth iteration, the Electronic Medical Records and Genomics (eMERGE) network is investigating how genome-informed risk assessments (GIRAs) for 11 actionable conditions can be generated reliably across diverse populations and inform downstream clinical care. In this panel, we describe the ways that the network has worked to develop, optimize, and assess the use of GIRAs–defined as a combination of monogenic, polygenic, family history, and clinical risk factors used to estimate disease risks–specifically for diverse and underserved populations. Particularly, we will explore the ethical, legal, and social implications (ELSI) of the decisions made in order to prioritize the needs and interests of our target populations throughout the study timeline: from the conception of the GIRAs to the impact of their clinical use.
Genomic research initiatives must continue to be mindful that study goals and processes benefit diverse populations, not exacerbate current health disparities. By highlighting the lessons learned in developing the eMERGE IV research procedures, this panel will inform future research endeavors which seek to implement equitable genomic medicine initiatives that benefit and build trust with the communities they intend to serve.

Authors: Katherine Bonini, Icahn School of Medicine at Mount Sinai; Stephanie Malia Fullerton, University of Washington; Laura Rasmussen-Torvik, Northwestern University Feinberg School of Medicine; Harris T. Bland, Vanderbilt University Medical Center; Margaret Harr, Children’s Hospital of Philadelphia; Maya Sabatello, Columbia University; Ingrid A. Holm, Boston Children's Hospital