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Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

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...

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Autores principales: Wiesner, Georgia L., Kulchak Rahm, Alanna, Appelbaum, Paul, Aufox, Sharon, Bland, Sarah T., Blout, Carrie L., Christensen, Kurt D., Chung, Wendy K., Clayton, Ellen Wright, Green, Robert C., Harr, Margaret H., Henrikson, Nora, Hoell, Christin, Holm, Ingrid A., Jarvik, Gail P., Kullo, Iftikhar J., Lammers, Philip E., Larson, Eric B., Lindor, Noralane M., Marasa, Maddalena, F. Myers, Melanie, Peterson, Josh F., Prows, Cynthia A., Ralston, James D., Milo Rasouly, Hila, Sharp, Richard R., Smith, Maureen E., Van Driest, Sara L., Williams, Janet L., Williams, Marc S., Wynn, Julia, Leppig, Kathleen A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354592/
https://www.ncbi.nlm.nih.gov/pubmed/32349224
http://dx.doi.org/10.3390/jpm10020030
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author Wiesner, Georgia L.
Kulchak Rahm, Alanna
Appelbaum, Paul
Aufox, Sharon
Bland, Sarah T.
Blout, Carrie L.
Christensen, Kurt D.
Chung, Wendy K.
Clayton, Ellen Wright
Green, Robert C.
Harr, Margaret H.
Henrikson, Nora
Hoell, Christin
Holm, Ingrid A.
Jarvik, Gail P.
Kullo, Iftikhar J.
Lammers, Philip E.
Larson, Eric B.
Lindor, Noralane M.
Marasa, Maddalena
F. Myers, Melanie
Peterson, Josh F.
Prows, Cynthia A.
Ralston, James D.
Milo Rasouly, Hila
Sharp, Richard R.
Smith, Maureen E.
Van Driest, Sara L.
Williams, Janet L.
Williams, Marc S.
Wynn, Julia
Leppig, Kathleen A.
author_facet Wiesner, Georgia L.
Kulchak Rahm, Alanna
Appelbaum, Paul
Aufox, Sharon
Bland, Sarah T.
Blout, Carrie L.
Christensen, Kurt D.
Chung, Wendy K.
Clayton, Ellen Wright
Green, Robert C.
Harr, Margaret H.
Henrikson, Nora
Hoell, Christin
Holm, Ingrid A.
Jarvik, Gail P.
Kullo, Iftikhar J.
Lammers, Philip E.
Larson, Eric B.
Lindor, Noralane M.
Marasa, Maddalena
F. Myers, Melanie
Peterson, Josh F.
Prows, Cynthia A.
Ralston, James D.
Milo Rasouly, Hila
Sharp, Richard R.
Smith, Maureen E.
Van Driest, Sara L.
Williams, Janet L.
Williams, Marc S.
Wynn, Julia
Leppig, Kathleen A.
author_sort Wiesner, Georgia L.
collection PubMed
description 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 differences 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 procedures must be shaped by the needs of the patients and institutional environments.
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spelling pubmed-73545922020-07-23 Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network Wiesner, Georgia L. Kulchak Rahm, Alanna Appelbaum, Paul Aufox, Sharon Bland, Sarah T. Blout, Carrie L. Christensen, Kurt D. Chung, Wendy K. Clayton, Ellen Wright Green, Robert C. Harr, Margaret H. Henrikson, Nora Hoell, Christin Holm, Ingrid A. Jarvik, Gail P. Kullo, Iftikhar J. Lammers, Philip E. Larson, Eric B. Lindor, Noralane M. Marasa, Maddalena F. Myers, Melanie Peterson, Josh F. Prows, Cynthia A. Ralston, James D. Milo Rasouly, Hila Sharp, Richard R. Smith, Maureen E. Van Driest, Sara L. Williams, Janet L. Williams, Marc S. Wynn, Julia Leppig, Kathleen A. J Pers Med Article 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 differences 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 procedures must be shaped by the needs of the patients and institutional environments. MDPI 2020-04-27 /pmc/articles/PMC7354592/ /pubmed/32349224 http://dx.doi.org/10.3390/jpm10020030 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Wiesner, Georgia L.
Kulchak Rahm, Alanna
Appelbaum, Paul
Aufox, Sharon
Bland, Sarah T.
Blout, Carrie L.
Christensen, Kurt D.
Chung, Wendy K.
Clayton, Ellen Wright
Green, Robert C.
Harr, Margaret H.
Henrikson, Nora
Hoell, Christin
Holm, Ingrid A.
Jarvik, Gail P.
Kullo, Iftikhar J.
Lammers, Philip E.
Larson, Eric B.
Lindor, Noralane M.
Marasa, Maddalena
F. Myers, Melanie
Peterson, Josh F.
Prows, Cynthia A.
Ralston, James D.
Milo Rasouly, Hila
Sharp, Richard R.
Smith, Maureen E.
Van Driest, Sara L.
Williams, Janet L.
Williams, Marc S.
Wynn, Julia
Leppig, Kathleen A.
Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network
title Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network
title_full Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network
title_fullStr Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network
title_full_unstemmed Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network
title_short Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network
title_sort returning results in the genomic era: initial experiences of the emerge network
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354592/
https://www.ncbi.nlm.nih.gov/pubmed/32349224
http://dx.doi.org/10.3390/jpm10020030
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