Journal of Personalized Medicine (Apr 2020)
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
Affiliations
- Georgia L. Wiesner
- Vanderbilt Clinical and Translational Hereditary Cancer Program, Vanderbilt-Ingram Cancer Center, and Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA
- Alanna Kulchak Rahm
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- Paul Appelbaum
- Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, NY 10027, USA
- Sharon Aufox
- Department of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
- Sarah T. Bland
- Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
- Carrie L. Blout
- Department of Medicine Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, USA
- Kurt D. Christensen
- Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA 02115, USA
- Wendy K. Chung
- Department of Pediatrics and Department of Medicine, Columbia University, New York, NY 10027, USA
- Ellen Wright Clayton
- Center for Biomedical Ethics and Society and Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
- Robert C. Green
- Division of Genetics, Department of Medicine, Brigham and Women’s Hospital, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
- Margaret H. Harr
- Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
- Nora Henrikson
- Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA
- Christin Hoell
- Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA
- Ingrid A. Holm
- Division of Genetics and Genomics, Boston Children’s Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA
- Gail P. Jarvik
- Departments of Medicine, Division of Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98195, USA
- Iftikhar J. Kullo
- Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55902, USA
- Philip E. Lammers
- Department of Internal Medicine, Meharry Medical College, Nashville, TN 37208, USA
- Eric B. Larson
- Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA
- Noralane M. Lindor
- Department of Health Sciences Research, Mayo Clinic Arizona, Scottsdale, AZ 85259, USA
- Maddalena Marasa
- Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10032, USA
- Melanie F. Myers
- Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, College of Medicine, University of Cincinnati, Cincinnati, OH 45229, USA
- Josh F. Peterson
- Department of Medicine and Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
- Cynthia A. Prows
- Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati, Cincinnati, OH 45229, USA
- James D. Ralston
- Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA
- Hila Milo Rasouly
- Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10032, USA
- Richard R. Sharp
- Biomedical Ethics Program, Mayo Clinic, Rochester, MN 55902, USA
- Maureen E. Smith
- Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
- Sara L. Van Driest
- Department of Pediatrics and Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA
- Janet L. Williams
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- Marc S. Williams
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- Julia Wynn
- Department of Pediatrics, Columbia University, New York, NY 10027, USA
- Kathleen A. Leppig
- Genetic Services and Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA
- DOI
- https://doi.org/10.3390/jpm10020030
- Journal volume & issue
-
Vol. 10,
no. 2
p. 30
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 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.
Keywords
