Genomic considerations for FHIR®; eMERGE implementation lessons

Mullai Murugan; Lawrence J Babb; Casey Overby Taylor; Luke V Rasmussen; Robert R Freimuth; Eric Venner; Fei Yan; Victoria Yi; Stephen J Granite; Hana Zouk; Samuel J Aronson; Kevin Power; Alex Fedotov; David R Crosslin; David Fasel; Gail P Jarvik; Hakon Hakonarson; Hana Bangash; Iftikhar J Kullo; John J Connolly; Jordan G Nestor; Pedro J Caraballo; WeiQi Wei; Ken Wiley; Heidi L Rehm; Richard A Gibbs

doi:10.1016/j.jbi.2021.103795

Genomic considerations for FHIR®; eMERGE implementation lessons

J Biomed Inform. 2021 Jun:118:103795. doi: 10.1016/j.jbi.2021.103795. Epub 2021 Apr 28.

Authors

Mullai Murugan¹, Lawrence J Babb², Casey Overby Taylor³, Luke V Rasmussen⁴, Robert R Freimuth⁵, Eric Venner⁶, Fei Yan⁷, Victoria Yi⁷, Stephen J Granite³, Hana Zouk⁸, Samuel J Aronson⁹, Kevin Power¹⁰, Alex Fedotov¹¹, David R Crosslin¹², David Fasel¹³, Gail P Jarvik¹⁴, Hakon Hakonarson¹⁵, Hana Bangash¹⁶, Iftikhar J Kullo¹⁶, John J Connolly¹⁵, Jordan G Nestor¹⁷, Pedro J Caraballo¹⁸, WeiQi Wei¹⁹, Ken Wiley²⁰, Heidi L Rehm²¹, Richard A Gibbs⁶

Affiliations

¹ Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Electronic address: murugan@bcm.edu.
² Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
³ Departments of Medicine and Biomedical Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁴ Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
⁵ Department of Digital Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
⁶ Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
⁷ Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
⁸ Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
⁹ Partners Personalized Medicine, Partners HealthCare, Cambridge, MA, USA.
¹⁰ Cerner Corporation, Kansas City, MO, USA.
¹¹ Irving Institute for Clinical and Translational Research, Columbia University, New York, NY, USA.
¹² Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA.
¹³ Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
¹⁴ Department of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA, USA.
¹⁵ Center for Applied Genomics, Children's Hospital of Philadelphia, PA, USA.
¹⁶ Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
¹⁷ Department of Medicine, Division of Nephrology, Columbia University, New York, NY, USA.
¹⁸ Department of Medicine and Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
¹⁹ Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
²⁰ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
²¹ Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Abstract

Structured representation of clinical genetic results is necessary for advancing precision medicine. The Electronic Medical Records and Genomics (eMERGE) Network's Phase III program initially used a commercially developed XML message format for standardized and structured representation of genetic results for electronic health record (EHR) integration. In a desire to move towards a standard representation, the network created a new standardized format based upon Health Level Seven Fast Healthcare Interoperability Resources (HL7® FHIR®), to represent clinical genomics results. These new standards improve the utility of HL7® FHIR® as an international healthcare interoperability standard for management of genetic data from patients. This work advances the establishment of standards that are being designed for broad adoption in the current health information technology landscape.

Keywords: Clinical decision support; Clinical genomics; Electronic health record (EHR); Genetic test results; HL7® FHIR® standard; Interoperability.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Electronic Health Records*
Genomics
Health Level Seven
Humans
Medical Informatics*
Precision Medicine

Abstract

Publication types

MeSH terms

Grants and funding