clinical genomics
DESCRIPTION
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 - PowerPoint PPT PresentationTRANSCRIPT
WGM - May 2011
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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