Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience.,Genetics in Medicine

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Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2020-06-18 , DOI: 10.1038/s41436-020-0863-9
Colin M E Halverson _{1,

2,

3} , Harris T Bland ₄ , Kathleen A Leppig ₅ , Maddalena Marasa ₆ , Melanie Myers _{7,

8} , Hila Milo Rasouly ₆ , Julia Wynn ₉ , Ellen Wright Clayton _{10,

11,

12}

Affiliation

Center for Bioethics, Indiana University School of Medicine, Indianapolis, IN, USA.
Department of Anthropology, Indiana University, Indianapolis, IN, USA.
Regenstrief Institute, Indianapolis, IN, USA.
Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Genetic Services, Kaiser Permanente of Washington and Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA.
Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.
College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN, USA.
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
School of Law, Vanderbilt University, Nashville, TN, USA.

Purpose

The Electronic Medical Records and Genomics (eMERGE) Consortium integrated biorepository-based research with electronic health records (EHR) to return results from large-scale 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.

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