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Description

Abstract: Genomics is being integrated into clinical care at an accelerated pace as evidence accrues for its value and impact on health outcomes. Major challenges exist that interfere with clinical translation. This includes the lack of standards for variant interpretation, representation, and knowledge management, as well as the availability of information at the point of care to guide clinicians and patients. Two NHGRI-funded projects, the electronic Medical Records and Genomics (eMERGE) network and the Clinical Genome resource (ClinGen), are working in conjunction with other efforts such as Health Level 7 (HL7) and Global Alliance for Genomic Health (GA4GH) to create and test resources that address these challenges. The objectives of this panel are to: 1) present progress on resources to support variant curation (ClinGen), point of care informational resources (eMERGE and ClinGen), and informatic standards (HL7, GA4GH), 2) inform attendees how to utilize these resources, and 3) solicit feedback from attendees on how these resources can be improved from the perspective of end-users.

Learning Objective 1: Attendees will be aware of projects from eMERGE, ClinGen, HL7 and GA4GH that are ready to be implemented in the clinic to support genomic medicine.

Learning Objective 2 (Optional): Attendees will understand how to access and implement resources within their organization.

Learning Objective 3 (Optional): Attendees will provide feedback to the presenters that will be used to improve the resource from the perspective of the end user.

Authors:

Marc Williams (Presenter)
Geisinger

Robert Freimuth (Presenter)
Mayo Clinic

Guilherme Del Fiol (Presenter)
University of Utah

Luke Rasmussen (Presenter)
Northwestern University

Ronak Patel (Presenter)
Baylor College of Medicine

Selina Dwight (Presenter)
Stanford University

Presentation Materials:

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