Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

the eMERGE Consortium

Research output: Contribution to journalArticle

2 Citations (Scopus)

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 data sharing between clinicians and investigators. A total of 202 individuals had positive diagnostic findings relevant to the indication for testing and 1,294 had additional/secondary findings of medical significance deemed to be returnable, establishing data return rates for other testing endeavors. This study accomplished integration of structured genomic results into multiple electronic health record (EHR) systems, setting the stage for clinical decision support to enable genomic medicine. Further, the established processes enable different sequencing sites to harmonize technical and interpretive aspects of sequencing tests, a critical achievement toward global standardization of genomic testing. The eMERGE protocols and tools are available for widespread dissemination.

Original languageEnglish (US)
Pages (from-to)588-605
Number of pages18
JournalAmerican journal of human genetics
Volume105
Issue number3
DOIs
StatePublished - Sep 5 2019

Fingerprint

Genetic Testing
Clinical Decision Support Systems
Precision Medicine
Gene Targeting
Information Dissemination
Electronic Health Records
Information Storage and Retrieval
DNA
Communication
Research Personnel
Medicine
Physicians

Keywords

  • clinical sequencing
  • electronic health record
  • eMERGE
  • harmonization
  • next generation sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. / the eMERGE Consortium.

In: American journal of human genetics, Vol. 105, No. 3, 05.09.2019, p. 588-605.

Research output: Contribution to journalArticle

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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 data sharing between clinicians and investigators. A total of 202 individuals had positive diagnostic findings relevant to the indication for testing and 1,294 had additional/secondary findings of medical significance deemed to be returnable, establishing data return rates for other testing endeavors. This study accomplished integration of structured genomic results into multiple electronic health record (EHR) systems, setting the stage for clinical decision support to enable genomic medicine. Further, the established processes enable different sequencing sites to harmonize technical and interpretive aspects of sequencing tests, a critical achievement toward global standardization of genomic testing. The eMERGE protocols and tools are available for widespread dissemination.",
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