Clinical Genomics WGM May 2019 Attendance https confluence

Clinical Genomics WGM – May 2019 Attendance https: //confluence. hl 7. org/display/CGW/2019 -05+WGM+Attendance Today's Agenda https: //confluence. hl 7. org/display/CGW/2019 -05+CG+WGM+Agenda Today's Minutes https: //confluence. hl 7. org/display/CGW/2019 -05+CGW+WGM+Minutes 1

HL 7® Clinical Genomics WG Co-chairs Bob Freimuth Bob Milius Gil Alterovitz Kevin Power Patrick Werner (interim) 2

Mission The Clinical Genomics Work Group supports the HL 7 mission to create and promote its standards by enabling the semantically meaningful exchange of data between parties interested in clinical, personal, and population genomic information and family health history, which are required to support personalized / precision medicine. The focus of the clinical genomics domain is the identification of an individual’s genomic data and family health history, to better understand the underlying genetic factors contributing to disease and health, and the linking to relevant clinical information including both data and knowledge. The long term vision of the Clinical Genomics Work Group includes within its scope “omics” technologies and data types related to genomics, including genetics, epigenetics, proteomics, etc. This work group will facilitate the development of common standards for clinical and translational information management across a variety of organizations, including (but not limited to): 1) academic medical centers, 2) hospitals and in-hospital testing labs, 3) independent testing laboratories, and 4) public data repositories and knowledge-bases serving as references to clinical genetics/genomics. These standards may be useful for clinical trials and research as well, especially when integrating with complementary clinical data. 3

http: //www. hl 7. org/Special/committees/clingenomics/index. cfm 4

http: //www. hl 7. org/Special/committees/clingenomics/listserv. cfm 5

• This points to our old minutes and agendas • Now using confluence http: //www. hl 7. org/Special/committees/clingenomics/minutes. cfm 6

• This points to our old minutes and agendas • Now using confluence 7

https: //confluence. hl 7. org/display/CGW/Work. Group+Home 8

https: //confluence. hl 7. org/display/CGW/2019 -05+CG+WGM+Agenda 9

http: //www. hl 7. org/Special/committees/clingenomics/products. cfm 10

http: //www. hl 7. org/Special/committees/clingenomics/projects. cfm 11

http: //www. hl 7. org/Special/committees/clingenomics/reports. cfm 12

Clinical Genomics Working Group Overview of Activities Four Tracks: v 2: v 3: CDA: FHIR R 4: • v 2 Implementation Guides § Family History § A CDA § Genetics Reporting IG § Molecular. Sequence Genetic Variation (Fully LOINC-Qualified Genetic Variation Model) § Genetic Variations Laboratory Results Interface (LRI) § CMETs defined by the (Pedigree) § Gene Expression Implementation Guide for Genetic Testing Reports Resource § Profiles for • Family member history Domain Common: § Domain Analysis Models for the various topics § A Domain Information Model describing the common semantics § Semantic alignment among the various specs Red projects are being developed or maintained for genetics analysis • Diagnostic. Report • Procedure. Request • HLA Reporting • Genetic Observation

http: //www. hl 7. org/fhir/uv/genomics-reporting/2019 Jan/index. html 14

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http: //www. hl 7. org/fhir/uv/genomics-reporting/2019 Jan/general. html 16

http: //www. hl 7. org/fhir/uv/genomics-reporting/2019 Jan/general. html 17

http: //www. hl 7. org/fhir/uv/genomics-reporting/2019 Jan/obs-genotype. html 18

Thank you! Questions? 19