![]() ![]() Limitations of the study results must be understood in the context of the eMERGE3 Network. However, the number of participants who actually received genetic counseling is likely higher as some participants had prior knowledge of their genetic diagnoses and therefore previous genetic counseling for their disease-associated variant. Across the eMERGE3 Network, a total of 38.9% of 1444 participants with pathogenic or likely pathogenic variants received their results and genetic counseling. One notable finding was that RoR processes did not necessarily imply that participants received genetic counseling. These varying methods of disclosure are thought to be an important contributing factor to rates of results disclosure. Various methods included in-person appointments with a medical geneticist and/or genetic counselor, phone calls, use of a patient portal in the EHR, and use of US postal mail. Sites not only differed in policies as to whether or not participants were required to have results disclosed, but they also varied in the method of communication of results. ![]() Adult populations had a results disclosure rate of 82.5% (ranging from 24.7% to 97.5%) across cohorts and clinical sites, whereas pediatric participants had a lower results disclosure rate of 24.2%, ranging between 20.9% and 83.3%. Of the 1444 participants with at least 1 variant, 1077 were disclosed to the participant (74.6%). An overall frequency of 5.7% of pathogenic or likely pathogenic variants among eMERGE participants was demonstrated, although it ranged from 2.8% to 10.3% at individual sites based on initial sampling methods and site-specific criteria for RoR. In all, 1444 had at least 1 pathogenic or likely pathogenic variant in a significant gene eligible for RoR 35 had variants in 2 different genes. The eMERGE3 study enrolled approximately 25,000 participants from 10 different health care systems, through which sequencing of approximately 100 actionable genes took place. This study and experience of RoR via the eMERGE3 Network was meant to guide and inform future genomic research projects (along with efforts of implementation). Connecting genomic information to a national database such as eMERGE3 instills the hope of decreasing or ameliorating associated disease by establishing a unified slate of best practices for various genetic conditions. One of the goals of genomic medicine is to provide tailored management and surveillance for individuals with a highly penetrant disease-causing genetic variant. ![]() The aim of this study was to use one such network, the Electronic Medical Records and Genomics (eMERGE) Network, to analyze the procedures of genomic testing and RoRs of significant variants in genes associated with adult-onset disease in various institutions, thereby evaluating the RoR process (including methods for RoR, consent, result disclosure to participants, informing health care providers, and data uploading to electronic health records ). Because the identification of hereditary disorders can greatly assist in patient monitoring and treatment for many diseases (eg, use of PARP inhibitors in patients with specific breast cancer pathogenic variants in BRCA1 or BRCA2), streamlining the procedure for genomic testing and strategies for return of results (RoRs) can improve patient experiences. The American College of Genetics and Genomics (ACMG) designated 59 genes (this is now higher with subsequent versions of the guideline) as highly actionable owing to availability of effective medical management guidelines for individuals with detected disease-causing variants in one of these genes. ![]() As increased accessibility to genetic testing contributes to finding more individuals with genetic predispositions to a specific conditions or diseases, National Institutes of Health-sponsored networks grow in importance when considering the identification and subsequent management of these conditions. ![]()
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