FHIR and Genomics
summary
Introduces the FHIR R4 Genomics Reporting IG and shows concrete tools and demos: SMART on FHIR apps (Smart Cancer Navigator, Precision Cancer Medicine), CDS Hooks, and a San Antonio prototype that queries 1,000 Genomes VCFs and translates them into FHIR diagnostic reports and clinician cards. Profiles include a variant profile with about 26 potential components, a regionStudied profile for coverage, and groupings for findings, implications and recommendations; whole‑genome scale and bundles of hundreds of genes work, and the IG has passed ballots toward publication.
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chapters (28)
- 0:00Introduction
- 1:10Agenda
- 2:16Motivation
- 3:43Quality
- 4:06Genomics Lab Reports
- 4:49Point of Care Apps
- 6:57Downstream Research
- 7:55Prototype
- 10:19Clinical Genomics
- 12:24Genomics Implementation Guide
- 14:05Mission Statement
- 14:46Genomics Guide
- 17:09Table of Contents
- 17:48Reporting Overview
- 18:25Genomics Report
- 21:35Red Outlines
- 23:48Other Resources
- 24:26Supporting Information
- 25:07Findings
- 30:50Codables
- 32:32Variants
- 33:30Implications
- 35:18Pharmacogenomics
- 36:28HLA
- 37:05Questions
- 38:36Variance Reporting
- 41:34GA4G
- 42:51HSBC
