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

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.

Do research participants share genomic screening results with family members?

“…The procedure for returning results varied by site and included return by phone, secure email, patient portal, US postal mail, or face‐to‐face (Wiesner et al., 2020). Site‐specific materials were developed to explain results, including patient letters, family letters, and other resources (Lynch et al., 2020). All participants with a positive result received a summary letter providing recommendations based on their results.…”

“…All participants with a positive result received a summary letter providing recommendations based on their results. These letters were site‐specific, and some but not all letters discussed the importance of sharing the results with first‐degree family members (Lynch et al., 2020).…”

Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network

“…Additionally, results letters and other written materials used to return negative results were collected to facilitate content analysis. Content analysis of written materials was informed by previous work by Lynch et al, 2020 (Lynch et al, 2020). The content of these letters was examined with respect to nine elements: purpose of letter, reminder of study participation, confirmation that genomic testing was completed, reminder that participants consented to receive results, limitations of negative results, encouragement to speak with a genetic counselor and/or primary‐care provider about screening results, encouragement to speak with family members about screening results, relevance of screening results for family members, and contact information for additional information.…”

Ethical Considerations about Genomic Medicine Implementation: Lessons Learned from the eMERGE III Study

“…They also requested that genetic counseling be readily available to participants with queries about their genomic findings for both positive and negative results. The best method for communicating complex and clinically nuanced findings to participants remains an ongoing challenge in returning genomic test results [ 5 ]. Researchers have been recommended to utilize several resources for guidance in this process (e.g., Agency for Healthcare Research and Quality [ 5 , 6 ]).…”

“…The best method for communicating complex and clinically nuanced findings to participants remains an ongoing challenge in returning genomic test results [5]. Researchers have been recommended to utilize several resources for guidance in this process (e.g., Agency for Healthcare Research and Quality [5,6]).…”