Returning results in the genomic era: Initial experiences of the emerge network

Georgia L. Wiesner; Alanna Kulchak Rahm; Paul Appelbaum; Sharon Aufox; Sarah T. Bland; Carrie L. Blout; Kurt D. Christensen; Wendy K. Chung; Ellen Wright Clayton; Robert C. Green; Margaret H. Harr; Nora Henrikson; Christin Hoell; Ingrid A. Holm; Gail P. Jarvik; Iftikhar J. Kullo; Philip E. Lammers; Eric B. Larson; Noralane M. Lindor; Maddalena Marasa; Melanie F. Myers; Josh F. Peterson; Cynthia A. Prows; James D. Ralston; Hila Milo Rasouly; Richard R. Sharp; Maureen E. Smith; Sara L. Van Driest; Janet L. Williams; Marc S. Williams; Julia Wynn; Kathleen A. Leppig

doi:10.3390/jpm10020030

Returning results in the genomic era: Initial experiences of the emerge network

Georgia L. Wiesner^*, Alanna Kulchak Rahm, Paul Appelbaum, Sharon Aufox, Sarah T. Bland, Carrie L. Blout, Kurt D. Christensen, Wendy K. Chung, Ellen Wright Clayton, Robert C. Green, Margaret H. Harr, Nora Henrikson, Christin Hoell, Ingrid A. Holm, Gail P. Jarvik, Iftikhar J. Kullo, Philip E. Lammers, Eric B. Larson, Noralane M. Lindor, Maddalena MarasaMelanie F. Myers, Josh F. Peterson, Cynthia A. Prows, James D. Ralston, Hila Milo Rasouly, Richard R. Sharp, Maureen E. Smith, Sara L. Van Driest, Janet L. Williams, Marc S. Williams, Julia Wynn, Kathleen A. Leppig

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

40 Scopus citations

Abstract

A goal of the 3rd phase of the Electronic Medical Records and Genomics (eMERGE3) Network was to examine the return of results (RoR) of actionable variants in more than 100 genes to consenting participants and their healthcare providers. Each of the 10 eMERGE sites developed plans for three essential elements of the RoR process: Disclosure to the participant, notification of the health care provider, and integration of results into the electronic health record (EHR). Procedures and protocols around these three elements were adapted as appropriate to individual site requirements and limitations. Detailed information about the RoR procedures at each site was obtained through structured telephone interviews and follow-up surveys with the clinical investigator leading or participating in the RoR process at each eMERGE3 institution. Because RoR processes at each of the 10 sites allowed for taking into account di_erences in population, disease focus and institutional requirements, significant heterogeneity of process was identified, including variability in the order in which patients and clinicians were notified and results were placed in the EHR. This heterogeneity in the process flow for eMERGE3 RoR reflects the “real world” of genomic medicine in which RoR rocedures must be shaped by the needs of the patients and institutional environments.

Original language	English (US)
Article number	30
Journal	Journal of Personalized Medicine
Volume	10
Issue number	2
DOIs	https://doi.org/10.3390/jpm10020030
State	Published - May 2020

Funding

Funding: This phase of the eMERGE Network was initiated and funded by the 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 Health Sciences); 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).

ASJC Scopus subject areas

Medicine (miscellaneous)

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10.3390/jpm10020030

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Wiesner, G. L., Rahm, A. K., Appelbaum, P., Aufox, S., Bland, S. T., Blout, C. L., Christensen, K. D., Chung, W. K., Clayton, E. W., Green, R. C., Harr, M. H., Henrikson, N., Hoell, C., Holm, I. A., Jarvik, G. P., Kullo, I. J., Lammers, P. E., Larson, E. B., Lindor, N. M., ... Leppig, K. A. (2020). Returning results in the genomic era: Initial experiences of the emerge network. Journal of Personalized Medicine, 10(2), Article 30. https://doi.org/10.3390/jpm10020030

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title = "Returning results in the genomic era: Initial experiences of the emerge network",

abstract = "A goal of the 3rd phase of the Electronic Medical Records and Genomics (eMERGE3) Network was to examine the return of results (RoR) of actionable variants in more than 100 genes to consenting participants and their healthcare providers. Each of the 10 eMERGE sites developed plans for three essential elements of the RoR process: Disclosure to the participant, notification of the health care provider, and integration of results into the electronic health record (EHR). Procedures and protocols around these three elements were adapted as appropriate to individual site requirements and limitations. Detailed information about the RoR procedures at each site was obtained through structured telephone interviews and follow-up surveys with the clinical investigator leading or participating in the RoR process at each eMERGE3 institution. Because RoR processes at each of the 10 sites allowed for taking into account di_erences in population, disease focus and institutional requirements, significant heterogeneity of process was identified, including variability in the order in which patients and clinicians were notified and results were placed in the EHR. This heterogeneity in the process flow for eMERGE3 RoR reflects the “real world” of genomic medicine in which RoR rocedures must be shaped by the needs of the patients and institutional environments.",

author = "Wiesner, {Georgia L.} and Rahm, {Alanna Kulchak} and Paul Appelbaum and Sharon Aufox and Bland, {Sarah T.} and Blout, {Carrie L.} and Christensen, {Kurt D.} and Chung, {Wendy K.} and Clayton, {Ellen Wright} and Green, {Robert C.} and Harr, {Margaret H.} and Nora Henrikson and Christin Hoell and Holm, {Ingrid A.} and Jarvik, {Gail P.} and Kullo, {Iftikhar J.} and Lammers, {Philip E.} and Larson, {Eric B.} and Lindor, {Noralane M.} and Maddalena Marasa and Myers, {Melanie F.} and Peterson, {Josh F.} and Prows, {Cynthia A.} and Ralston, {James D.} and Rasouly, {Hila Milo} and Sharp, {Richard R.} and Smith, {Maureen E.} and {Van Driest}, {Sara L.} and Williams, {Janet L.} and Williams, {Marc S.} and Julia Wynn and Leppig, {Kathleen A.}",

note = "Publisher Copyright: {\textcopyright} 2020 by the authors. Licensee MDPI, Basel, Switzerland.",

year = "2020",

month = may,

doi = "10.3390/jpm10020030",

language = "English (US)",

volume = "10",

journal = "Journal of Personalized Medicine",

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Wiesner, GL, Rahm, AK, Appelbaum, P, Aufox, S, Bland, ST, Blout, CL, Christensen, KD, Chung, WK, Clayton, EW, Green, RC, Harr, MH, Henrikson, N, Hoell, C, Holm, IA, Jarvik, GP, Kullo, IJ, Lammers, PE, Larson, EB, Lindor, NM, Marasa, M, Myers, MF, Peterson, JF, Prows, CA, Ralston, JD, Rasouly, HM, Sharp, RR, Smith, ME, Van Driest, SL, Williams, JL, Williams, MS, Wynn, J & Leppig, KA 2020, 'Returning results in the genomic era: Initial experiences of the emerge network', Journal of Personalized Medicine, vol. 10, no. 2, 30. https://doi.org/10.3390/jpm10020030

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T1 - Returning results in the genomic era

T2 - Initial experiences of the emerge network

AU - Wiesner, Georgia L.

AU - Rahm, Alanna Kulchak

AU - Appelbaum, Paul

AU - Aufox, Sharon

AU - Bland, Sarah T.

AU - Blout, Carrie L.

AU - Christensen, Kurt D.

AU - Chung, Wendy K.

AU - Clayton, Ellen Wright

AU - Green, Robert C.

AU - Harr, Margaret H.

AU - Henrikson, Nora

AU - Hoell, Christin

AU - Holm, Ingrid A.

AU - Jarvik, Gail P.

AU - Kullo, Iftikhar J.

AU - Lammers, Philip E.

AU - Larson, Eric B.

AU - Lindor, Noralane M.

AU - Marasa, Maddalena

AU - Myers, Melanie F.

AU - Peterson, Josh F.

AU - Prows, Cynthia A.

AU - Ralston, James D.

AU - Rasouly, Hila Milo

AU - Sharp, Richard R.

AU - Smith, Maureen E.

AU - Van Driest, Sara L.

AU - Williams, Janet L.

AU - Williams, Marc S.

AU - Wynn, Julia

AU - Leppig, Kathleen A.

PY - 2020/5

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N2 - A goal of the 3rd phase of the Electronic Medical Records and Genomics (eMERGE3) Network was to examine the return of results (RoR) of actionable variants in more than 100 genes to consenting participants and their healthcare providers. Each of the 10 eMERGE sites developed plans for three essential elements of the RoR process: Disclosure to the participant, notification of the health care provider, and integration of results into the electronic health record (EHR). Procedures and protocols around these three elements were adapted as appropriate to individual site requirements and limitations. Detailed information about the RoR procedures at each site was obtained through structured telephone interviews and follow-up surveys with the clinical investigator leading or participating in the RoR process at each eMERGE3 institution. Because RoR processes at each of the 10 sites allowed for taking into account di_erences in population, disease focus and institutional requirements, significant heterogeneity of process was identified, including variability in the order in which patients and clinicians were notified and results were placed in the EHR. This heterogeneity in the process flow for eMERGE3 RoR reflects the “real world” of genomic medicine in which RoR rocedures must be shaped by the needs of the patients and institutional environments.

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Returning results in the genomic era: Initial experiences of the emerge network

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