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Clinical Genomics

This overview highlights the current pilots and implementations in clinical genomics across the US and Europe, focusing on the Canonical Pedigree Project (CPP) and its significance in family history documentation. The Genetic Variation v3 initiative is being integrated into the European Commission's Hypergenes project for essential hypertension. Key ongoing projects include the development of an implementation guide for genetic testing reports and tumor profiling standards. Notable pilot sites include the Dana-Farber Cancer Institute, which contributes to the evolution of standards in genomics.

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Clinical Genomics

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  1. Clinical Genomics Ongoing pilots: Family History (“Pedigree”) is implemented in operational systems in the US and Europe The CPP (Canonical Pedigree Project) is gaining momentum Genetic Variation v3 Genetic Variation is used in the European Commission Hypergenes project on essential hypertension v2 (implementation guide over Lab v2.5.1) is piloted between Partners Healthcare & Intermountain Health Care Under ballot reconciliation: CDA Implementation Guide for Genetic Testing Reports (developed with OHT MDHT) Ongoing standards development: Genetic Variation v2 extension of the published HL7 2.5.1 Clinical Genomic Lab Result Implementation Guide to support tumor profiling results. Pilot sites include Dana-Farber Cancer Institute (DFCI). v3 Genetic Variation passed normative ballot as a CMET representing testing results Cytogenetics in v2 and v3 specifications Domain Analysis Model and respective DIM Gene Expression v3 CMET Genomic Specimen : adjustment to the universal Specimen CMET

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