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Clinical Genomics

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

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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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