A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings

Abstract

Genomic sequencing (GS) can reveal secondary ndings (SFs), ndings unrelated to the reason for testing, that can be overwhelming to both patients and providers. An effective approach for communicating all clinically signi cant primary and secondary GS results is needed to effectively manage this large volume of results. The aim of this study was to develop a comprehensive approach to communicate all clinically signi cant primary and SF results. A genomic test report with accompanying patient and provider letters were developed in 3 phases: review of current clinical reporting practices, consulting with genetic and non-genetics experts, and iterative re nement through circulation to key stakeholders. The genomic test report and consultation letters present a myriad of clinically relevant GS results in distinct, tabulated sections, including primary and secondary ndings, with in-depth details of each nding. They provide detailed variant and disease information, personal and familial risk assessments, clinical management details, and additional resources to help support providers and patients with implementing healthcare recommendations related to their GS results. The report and consultation letters represent a comprehensive approach to communicate all clinically signi cant SFs to patients and providers, facilitating clinical management of GS results.