SNOMED CT and Genomics Mike Bainbridge Clinical lead, AsiaPac Peter Hendler Clinical lead, Americas

▪Genomics landscape - numerous groups/individuals, multiple terminologies, databases and clinical information sources ▪Genomics challenges - linking information sources, linked to diagnosis, environmental and social data as well as family history recorded within the HER ▪SNOMED CT – provide linkages to information in HER, and leverage experience in interoperability ▪Genomics has an impact on all clinical disciplines ▪Data analytics – large amounts of data, but results will be wide and far reaching, changing medicine as we currently know it Background

▪SNOMED CT - contains some clinical genetics and molecular pathology (incomplete/inconsistent) ▪Genomics requires very distinct data items - clinical findings, Substances, Organisms, Methods, Diagnoses ▪Genomics requires representation in a complete manner, with linkages between the data items (modelling) ▪Examples of current work items - cancer synoptic reporting (IPaLM SIG), Organism project, Substances project, Orphanet alignment activity ▪Pharmaceutical and medical products industries – interest to use SNOMED data to help identify protein encoding gene sequences that may have therapeutic benefit. SNOMED CT - current

▪IHTSDO needs a coordinated approach to genomics ▪Continuing to support the adoption of SNOMED CT in EHRs, and to include phenotypic data ▪Persuading the global genomics research community to use SNOMED CT for analytics and for IHTSDO to demonstrate the utility of the underlying semantic structure of SNOMED for this purpose ▪Engaging with a diverse number of clinical specialty groups ▪Identification of future developments in genomics ▪Improving the content of SNOMED CT to meet the demands of genomics ▪Developing linkages between SNOMED CT and genomics information sources Issues

▪Briefing paper on the proposed approach submitted to Management Board for discussion/agreement ▪Development of a strategic approach to genomics ▪Including plan to leverage genomics resources ▪Develop and publish a genomics engagement plan ▪Publication and communication of IHTSDO intentions regarding genomics ▪Undertake a mapping exercise of genomics groups globally, including groups and data sources ▪Genomics expert group ▪Engage directly with clinicians involved in genomics developments ▪Provision of software to show clinicians how SNOMED CT and genomics can work together ▪Enable genomics expertise to shape the future SNOMED CT developments ▪Identification of pilot sites to develop and test how SNOMED CT and genomics can work together most effectively Proposed way forward

▪Leveraging exisiting clinical expertise and contacts ▪Getting the word out.... both formally and informally ▪Formation of an IHTSDO genomics group ▪Development of strategy and implementation plan ▪Implementation of pilot sites Discussion/next steps