Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

ABSTRACT: The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The eMERGE III Network enrolled >25,000 participants from biobank and prospective cohorts of predominantly healthy individuals for clinical genetic testing to determine clinically actionable findings. The network developed protocols linking together the 11 participant collection sites and 2 clinical genetic testing laboratories. DNA capture panels targeting 109 genes were used for testing of DNA and sample collection, data generation, interpretation, reporting, delivery, and storage were each harmonized. A compliant and secure network enabled ongoing review and reconciliation of clinical interpretations, while maintaining communication and

SUBMITTER: eMERGE Consortium. Electronic address: [e-mail] 

PROVIDER: S-EPMC6731372 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature