Journal of Personalized Medicine (May 2020)
Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network
- John A. Lynch,
- Richard R. Sharp,
- Sharon A. Aufox,
- Sarah T. Bland,
- Carrie Blout,
- Deborah J. Bowen,
- Adam H. Buchanan,
- Colin Halverson,
- Margaret Harr,
- Scott J. Hebbring,
- Nora Henrikson,
- Christin Hoell,
- Ingrid A. Holm,
- Gail Jarvik,
- Iftikhar J. Kullo,
- David C. Kochan,
- Eric B. Larson,
- Amanda Lazzeri,
- Kathleen A. Leppig,
- Jill Madden,
- Maddalena Marasa,
- Melanie F. Myers,
- Josh Peterson,
- Cynthia A. Prows,
- Alanna Kulchak Rahm,
- James Ralston,
- Hila Milo Rasouly,
- Aaron Scrol,
- Maureen E. Smith,
- Amy Sturm,
- Kelsey Stuttgen,
- Georgia Wiesner,
- Marc S. Williams,
- Julia Wynn,
- Janet L. Williams
Affiliations
- John A. Lynch
- Department of Communication, University of Cincinnati, Cincinnati, OH 45220, USA
- Richard R. Sharp
- Biomedical Ethics, Mayo Clinic, Rochester, MN 55902, USA
- Sharon A. Aufox
- Center for Genomic Medicine, 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 Blout
- Harvard Pilgrim Health Care Institute, Boston, MA 02115, USA
- Deborah J. Bowen
- Department of Bioethics and Humanities, School of Medicine, University of Washington, Seattle, WA 98195, USA
- Adam H. Buchanan
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- Colin Halverson
- School of Medicine, Indiana University-Purdue University, Indianapolis, IN 46202, USA
- Margaret Harr
- Center for Applied Genomics, Children’s Hospital of Pennsylvania, Philadelphia, PA 19104, USA
- Scott J. Hebbring
- Marshfield Clinic Research Institute, Marshfield, WI 54449, USA
- Nora Henrikson
- Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA
- Christin Hoell
- Center for Genomic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
- Ingrid A. Holm
- Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA
- Gail Jarvik
- Departments of Medicine (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
- David C. Kochan
- Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55902, USA
- Eric B. Larson
- Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA
- Amanda Lazzeri
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- Kathleen A. Leppig
- Genetic Services, Kaiser Permanente of Washington, Seattle, WA 98101, USA
- Jill Madden
- Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA
- Maddalena Marasa
- Department of Medicine, Division of Nephrology, Columbia University Irving Medical Center, New York, NY 10032, USA
- Melanie F. Myers
- College of Medicine, University of Cincinnati, Cincinnati, OH 45220, USA
- Josh Peterson
- 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
- Alanna Kulchak Rahm
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- James 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 Irving Medical Center, New York, NY 10032, USA
- Aaron Scrol
- Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA
- Maureen E. Smith
- Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
- Amy Sturm
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- Kelsey Stuttgen
- Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55902, USA
- Georgia Wiesner
- Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA
- Marc S. Williams
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- Julia Wynn
- Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10027, USA
- Janet L. Williams
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- DOI
- https://doi.org/10.3390/jpm10020038
- Journal volume & issue
-
Vol. 10,
no. 2
p. 38
Abstract
A challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a manner that is scalable to the large numbers of participants enrolled. The purpose of this study was to examine the features of genetic results letters produced at each Electronic Medical Records and Genomics (eMERGE3) Network site to assess their readability and content. Letters were collected from each site, and a qualitative analysis of letter content and a quantitative analysis of readability statistics were performed. Because letters were produced independently at each eMERGE site, significant heterogeneity in readability and content was found. The content of letters varied widely from a baseline of notifying participants that results existed to more detailed information about positive or negative results, as well as materials for sharing with family members. Most letters were significantly above the Centers for Disease Control-suggested reading level for health communication. While continued effort should be applied to make letters easier to understand, the ongoing challenge of explaining complex genomic information, the implications of negative test results, and the uncertainty that comes with some types of test and result makes simplifying letter text challenging.
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