Genomics update – Editorial AG
April 2017, Business Meeting
Ian Green
Clinical Engagement and Education Business Manager
Time lines
▪ Strategy
▪ Work undertaken by Genome One (part of the Garvan Institute)
▪ Work underway
▪ Completion date – 17th, March 2017
▪ Subject Matter Expert (SME) group
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First meeting after the April conference – 28th, April 2017
Genomics experts from different perspectives
Advise on taking the strategy forward
Development of the genomics roadmap
▪ Roadmap
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Work plan based on the strategy
Envisage 3-5 year plan
Identification of the work that needs to be completed
Prioritization of the work
Strategy
▪ Power point deck, covering:
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Vision for SNOMED CT and Genomics
Genomics landscape, with particular reference to the use of terminology
Identification of the key genomics institutions globally
Identification of the high level requirements for the genomics
communities in terms of interoperability and clinical terminology (links to
EHR data)
Proposals for key genomics collaboration partners
Identification of content themes which need to be reflected in SNOMED
CT to meet the requirements of the genomics community
A proposed schedule for the IHTSDO to achieve its strategic aims in
relation to genomics
How the genomics strategy meets the strategic aims of the clinical and
genomics communities by addressing economic considerations of future
treatment schedules, and addressing the management of population
health
SME group
▪ 15 member group
▪ Chair – Charles Gutteridge (Clinical Lead, EMEA)
▪ Membership
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International databases/perspectives
Pharmacogenetics
National genomics programmes
Genomics clinicians
▪ Aim
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Advise on moving the Genomics work forwards
Review of Genomics strategy
Development of genomics work plan
Identification of genomics SNOMED CT pilot sites
Identification of partner organizations for genomics projects
Pilot sites
▪ Timescale Q3 2017
▪ Discussion on possible sites will be undertaken by SME
group
▪ Proposal for pilot site(s) will be submitted to
Management Board for final approval
▪ Pilot(s) will run for 6-12 months dependent on specifics
of the implementations
▪ Will cover the use of SNOMED CT, and its interactions
with other genomics classifications/terminologies
▪ Detailed report will be published on completion of the
pilot(s), to encourage wider debate with SNOMED CT
and Genomics communities
Genomics Virtual Clinical Group
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Established mid 2017
Confluence based site
Support discussions related to Genomics
Sharing of documentation/use cases/requirements
Open to all individuals with a interest in genomics (will
look to include vendors as part of the discussions)
▪ Notification of the group will be posted via
www.snomed.org website, and through targeted
communications to specific organizations
Future view of genomics
1. Requires access by the genomics community of EHR
data
2. EHR data will need to incorporate genomics
information
3. The genomics community will need to share data
between organizations and EHR systems, requiring the
development of agreed standards, and the
interoperability challenges this raises
4. The potential for new definitions and classification of
disease types is likely to snowball very quickly
5. Precision Medicine, will look to incorporate genomics
data into clinical practice. Work is currently underway
in a number of countries through national programmes
Challenges
▪ Genomics community uses a number of different
terminologies/databases/classifications
▪ Genomics community currently defines disorder using
ICD-9CM/10 (limited usage only)
▪ New definitions and descriptions of diseases will need to
be included in SNOMED CT
▪ Keeping up with the changes originating from genomics
developments
▪ Linking to external genomics
classifications/terminologies
▪ Phenotypes (HPO, and other phenotype classifications)
▪ Genotypes
▪ Specification of requirements for new derivatives to
support interoperability (maps, linkage tables, subsets)