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 MaddenMaddalena 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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Article number38
JournalJournal of Personalized Medicine
Volume10
Issue number2
DOIs
StatePublished - May 2020

Keywords

  • Genetic testing
  • Genomic medicine
  • Patient communication
  • Return of results
  • Written communication

ASJC Scopus subject areas

  • Medicine (miscellaneous)

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