ABSTRACT
Several barriers to the implementation of genomic medicine have been identified. The National Human Genome Research Institute has funded several large collaborations to study genomic medicine in clinical care. These include, but are not limited to, the Implementing Genomics in Practice network, the Clinical Sequencing Evidence-Generating Research consortium, and the Electronic Medical Records and Genomics (eMERGE) network. eMERGE network sites represented on the Outcomes Working Group (OWG) selected a disorder(s) for which their site developed clinical outcome measures. The penultimate draft was submitted to the eMERGE coordinating center that, under the direction of one of the OWG co-chairs, was tasked to develop the outcomes into a collection tool that could be created in REDCap using a standard format. Comparing Actionability Working Group (AWG) scoring to the eMERGE outcomes list demonstrates significant concordance. The eMERGE outcomes combine two disorders, Lynch syndrome and the rarer familial adenomatous polyposis, while these are scored separately by the ClinGen AWG.
