Participant choices for return of genomic results in the eMERGE Network

Abstract

Purpose

Secondary findings are typically offered in an all or none fashion when sequencing is used for clinical purposes. This study aims to describe the process of offering categorical and granular choices for results in a large research consortium.

Methods

Within the third phase of the electronic MEdical Records and GEnomics (eMERGE) Network, several sites implemented studies that allowed participants to choose the type of results they wanted to receive from a multigene sequencing panel. Sites were surveyed to capture the details of the implementation protocols and results of these choices.

Results

Across the ten eMERGE sites, 4664 participants including adolescents and adults were offered some type of choice. Categories of choices offered and methods for selecting categories varied. Most participants (94.5%) chose to learn all genetic results, while 5.5% chose subsets of results. Several sites allowed participants to change their choices at various time points, and 0.5% of participants made changes.

Conclusion

Offering choices that include learning some results is important and should be a dynamic process to allow for changes in scientific knowledge, participant age group, and individual preference.

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Acknowledgements

This phase of the eMERGE Network was initiated and funded by the National Human Genome Research Institute (NHGRI) through the following grants: U01HG008657 (Group Health Cooperative/University of Washington); U01HG008685 (Brigham and Women’s Hospital); U01HG008672 (Vanderbilt University Medical Center); U01HG008666 (Cincinnati Children’s Hospital Medical Center); U01HG006379 (Mayo Clinic); U01HG008679 (Geisinger Clinic); U01HG008680 (Columbia University Irving Medical Center); U01HG008684 (Children’s Hospital of Philadelphia); U01HG008673 (Northwestern University); U01HG008701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG008676 (Partners Healthcare/Broad Institute); U54MD007593-10 (Meharry Medical College); and U01HG008664 (Baylor College of Medicine).

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Correspondence to Cynthia A. Prows MSN, APRN.

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Disclosure

W.K.C. serves on the Scientific Advisory Board of Regeneron Genetics Center. K.M. is a consultant for Novartis, as well as a coinventor and consultant for Hive Networks, Inc. The other authors declare no conflicts of interest.

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Hoell, C., Wynn, J., Rasmussen, L.V. et al. Participant choices for return of genomic results in the eMERGE Network. Genet Med (2020). https://doi.org/10.1038/s41436-020-0905-3

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Keywords

  • secondary findings
  • genetic testing
  • preferences
  • disclosure
  • genetic research results