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.
Highlights
There is a growing consensus that the results of genomic testing ought to be returned to research participants, especially when those results may be viewed as useful or may have implications for health [1,2,3,4]
The Electronic Medical Records and Genomics (eMERGE) Network consists of sites that have established biobanks linked to electronic health records (EHRs) [18,19]
The first author (JAL) collected the participant letter templates from each site that were used in 2018 and 2019 and clarified the various time points at which the letters were made available to participants, when the letters were provided in relation to other key events such as the uploading of genomic results into the EHR, the communication of the results to the participant’s PCP, and any participant contact with a medical geneticist or genetic counselor
Summary
There is a growing consensus that the results of genomic testing ought to be returned to research participants, especially when those results may be viewed as useful or may have implications for health [1,2,3,4]. Numerous questions remain regarding which results to offer and in what manner. These are topics of much interest in the context of several large National Institutes of Health (NIH) consortia, including Electronic Medical Records and Genomics (eMERGE), Implementing Genomics in Practice (IGNITE), Clinical Sequencing Evidence-generating Research (CSER), and others. In general, serve the purpose of documenting relevant facts for patients and their caregivers by presenting information in a way that promotes understanding [8,9]. The complexity of some genetic results, including variants of unknown significance and uninformative negative results, can exacerbate the general issues of health communication coupled with low health literacy [11,12]
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