Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

John A Lynch¹, Richard R Sharp², Sharon A Aufox³, Sarah T Bland⁴, Carrie Blout⁵, Deborah J Bowen⁶, Adam H Buchanan⁷, Colin Halverson⁸, Margaret Harr⁹, Scott J Hebbring¹⁰, Nora Henrikson^{11

12}, Christin Hoell³, Ingrid A Holm^{13

14}, Gail Jarvik¹⁵, Iftikhar J Kullo¹⁶, David C Kochan¹⁶, Eric B Larson^{11

17}, Amanda Lazzeri⁷, Kathleen A Leppig^{18

19}, Jill Madden¹⁴, Maddalena Marasa²⁰, Melanie F Myers^{21

22}, Josh Peterson^{4

23}, Cynthia A Prows²², Alanna Kulchak Rahm⁷, James Ralston^{11

19}, Hila Milo Rasouly²⁰, Aaron Scrol¹¹, Maureen E Smith²⁴, Amy Sturm⁷, Kelsey Stuttgen¹⁶, Georgia Wiesner^{23

25}, Marc S Williams⁷, Julia Wynn²⁶, Janet L Williams⁷

Affiliations

¹ Department of Communication, University of Cincinnati, Cincinnati, OH 45220, USA.
² Biomedical Ethics, Mayo Clinic, Rochester, MN 55902, USA.
³ Center for Genomic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
⁴ Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
⁵ Harvard Pilgrim Health Care Institute, Boston, MA 02115, USA.
⁶ Department of Bioethics and Humanities, School of Medicine, University of Washington, Seattle, WA 98195, USA.
⁷ Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.
⁸ School of Medicine, Indiana University-Purdue University, Indianapolis, IN 46202, USA.
⁹ Center for Applied Genomics, Children's Hospital of Pennsylvania, Philadelphia, PA 19104, USA.
¹⁰ Marshfield Clinic Research Institute, Marshfield, WI 54449, USA.
¹¹ Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA.
¹² Department of Health Services, School of Public Health, University of Washington, Seattle, WA 98195, USA.
¹³ Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
¹⁴ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
¹⁵ Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
¹⁶ Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55902, USA.
¹⁷ Division of General Internal Medicine, University of Washington, Seattle, WA 98195, USA.
¹⁸ Genetic Services, Kaiser Permanente of Washington, Seattle, WA 98101, USA.
¹⁹ University of Washington Biomedical and Health Informatics, Seattle, WA 98195, USA.
²⁰ Department of Medicine, Division of Nephrology, Columbia University Irving Medical Center, New York, NY 10032, USA.
²¹ College of Medicine, University of Cincinnati, Cincinnati, OH 45220, USA.
²² Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH 45229, USA.
²³ Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
²⁴ Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
²⁵ Vanderbilt Clinical and Translational Hereditary Cancer Program, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
²⁶ Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10027, USA.

PMID: 32413979
PMCID: PMC7354464
DOI: 10.3390/jpm10020038

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

John A Lynch et al. J Pers Med. 2020.

. 2020 May 13;10(2):38.

doi: 10.3390/jpm10020038.

Authors

Affiliations

¹ Department of Communication, University of Cincinnati, Cincinnati, OH 45220, USA.
² Biomedical Ethics, Mayo Clinic, Rochester, MN 55902, USA.
³ Center for Genomic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
⁴ Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
⁵ Harvard Pilgrim Health Care Institute, Boston, MA 02115, USA.
⁶ Department of Bioethics and Humanities, School of Medicine, University of Washington, Seattle, WA 98195, USA.
⁷ Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.
⁸ School of Medicine, Indiana University-Purdue University, Indianapolis, IN 46202, USA.
⁹ Center for Applied Genomics, Children's Hospital of Pennsylvania, Philadelphia, PA 19104, USA.
¹⁰ Marshfield Clinic Research Institute, Marshfield, WI 54449, USA.
¹¹ Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA.
¹² Department of Health Services, School of Public Health, University of Washington, Seattle, WA 98195, USA.
¹³ Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
¹⁴ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
¹⁵ Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
¹⁶ Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55902, USA.
¹⁷ Division of General Internal Medicine, University of Washington, Seattle, WA 98195, USA.
¹⁸ Genetic Services, Kaiser Permanente of Washington, Seattle, WA 98101, USA.
¹⁹ University of Washington Biomedical and Health Informatics, Seattle, WA 98195, USA.
²⁰ Department of Medicine, Division of Nephrology, Columbia University Irving Medical Center, New York, NY 10032, USA.
²¹ College of Medicine, University of Cincinnati, Cincinnati, OH 45220, USA.
²² Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH 45229, USA.
²³ Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
²⁴ Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
²⁵ Vanderbilt Clinical and Translational Hereditary Cancer Program, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
²⁶ Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10027, USA.

PMID: 32413979
PMCID: PMC7354464
DOI: 10.3390/jpm10020038

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.

Keywords: genetic testing; genomic medicine; patient communication; return of results; written communication.

PubMed Disclaimer

Conflict of interest statement

The authors have no conflict of interest to disclose. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

**Figure 1**
Flow diagram of return of result sequences for positive and negative results.

See this image and copyright information in PMC

References

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Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

Affiliations

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Grants and funding

LinkOut - more resources

Full Text Sources