Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience

Abstract

The Electronic Medical Records and Genomics (eMERGE) Consortium integrated biorepository-based research with electronic health records (EHR) to return results from largescale genetic tests to participants and uploaded those data into the EHR. This article explores the ethical issues investigators encountered in that process. Methods: We conducted in-depth, semistructured interviews with study personnel of the eMERGE-III Consortium sites that returned results. Results: We discuss major ethical issues that arose while attempting to return research results from the eMERGE Consortium to individual participants. These included difficulties recontacting those participants who had not explicitly consented to such and disclosing results to many participants with insufficient infrastructure and staff. Investigators reported being driven by a supererogatory clinical impulse. Conclusion: All these issues ultimately derive from ethical conflicts inherent to translational work being done at the interface of research and clinical care. A critical rethinking of this divide is important, but infrastructural support for such work is necessary for an ethically sound rollout of large-scale genetic testing.

Return of results from genomic research: a practical tool

“…First, can RoR be done in a sustainable and consistent way throughout the project? Experiences from previous projects show returning results requires extensive resources to establish appropriate infrastructure, obtain the necessary approvals, and assign staff to RoR [48]; these may be di cult to fully assess and/or acquire before the RoR process begins [7,31]. Researchers should plan for some exibility to ensure the cost-effectiveness of the return process [49] and participant education and counselling expenses [48].…”

“…Second, researchers should establish collaborations with clinical experts (e.g., clinical geneticists, genetic counsellors), and use their expertise to develop the RoR plan and return results. The more the return process is supported and understood by clinicians, the more they will nd such processes useful and use the results for clinical purposes [31].…”

“…Returning IRR requires researchers to consider the scope of ndings to be returned, the strength of evidence for clinical utility, how to organize the informed consent process [27,28], gather the necessary expertise and resources to interpret variants and return results [29], and establish logistical infrastructure to support the return process [30], and potential follow-up [31]. Recent guidelines provide an overview of steps needed to plan for, and organise, the RoR process.…”

Conducting clinical genomics research during the COVID‐19 pandemic: Lessons learned from the CSER consortium experience

“…Additionally, the pandemic amplified the complexities of conducting research at the clinical-research boundary (Halverson et al, 2020;Wolf et al, 2018) (Gutierrez et al, 2021). CSER project representatives discussed their observations of how these policies affected participants 0 experiences, raising important questions for analysis as to whether these types of access barriers disproportionately impacted participants from underrepresented or underserved populations or recruitment of individuals from these groups.…”

GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing

“…eMERGE III offered all participants' genetic screening using a targeted panel of genes with return of both positive and negative results (eMERGE Consortium, 2019). This research study therefore mimics preventive clinical genetic screening to identify people at risk of developing adult-onset disorders with effective intervention or treatment available (Fossey et al, 2018;Halverson et al, 2020). Participants were not asked hypothetical questions but were rather asked to share their comprehension and expectations from the genetic test to which they consented.…”