. 2023 Jun 20;110(7):1021–1033. doi: 10.1016/j.ajhg.2023.05.011

Table 1.

Phases of eMERGE

	Focus	ELSI investigations	Participants
eMERGE I 2007–2011	feasibility of using clinical data from EMR for genomics research	⋅ consent for genomic research ⋅ obtaining results from the EMR ⋅ privacy of genetic information ⋅ sharing genomic data in accordance with the (then) new NIH GWAS policy ⋅ community engagement with representatives of the biobank populations included in the research, as well as other stakeholders¹^,²^,³^,⁴^,⁵^,⁶	∼17,000 previously collected samples primarily from people of European ancestry
eMERGE II 2011–2015	continued feasibility plus pharmacogenomic testing and return of results	⋅ returning results to biobank participants not previously consented to receive results ⋅ return of research results and their clinical integration into the EMR ⋅ survey of public attitudes about consent and data sharing⁷^,⁸^,⁹^,¹⁰^,¹¹	9,000 participants, including children
eMERGE III 2015–2020	returning actionable monogenic results to participants and providers	⋅ determining what types of results to return and how to do so ⋅ educating study participants and clinicians about genetic information and the types of results that might be returned ⋅ returning research results to children ⋅ comparing methods of return, engaging stakeholders in the return of research results	25,000 participants, including children
eMERGE IV 2020–present	returning genome informed risk assessment based on polygenic risk scores, family history, a limited number of monogenic variants, and clinical risk information to participants and providers	⋅ recruiting diverse populations ⋅ relative lack of knowledge about the predictiveness of many PRS in racial and ethnic populations who have been underrepresented in genomic research ⋅ providing to participants and their providers the information needed to understand results ⋅ engaging participants and providers in assessment of clinical and social outcomes¹²	25,000 participants, including children; cohorts comprise 70% of historically underrepresented communities in biomedical research; this is the first national research network to collect self-reported data on disability status and relationship to participation