Initiatives for coding of rare diseases in the UK

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Initiatives for coding of rare diseases in the UK
Andrew Devereau, Informatics Manager, National
Genetics Reference Laboratory, Manchester,
UK Shane McKee, Consultant Clinical Geneticist,
Northern Ireland Regional Genetics Service
Rare Disease Task Force Working Group Meeting 11
October 2006, Luxembourg
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Overview

• NHS and NHS Connecting for Health
• Do Once and Share for Clinical Genetics
• OBS for genetics
• SNOMED-CT and HL7
• NGRL projects

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NHS and NHS Connecting for Health

• National Health Service devolved to England,
  Scotland, Wales and Northern Ireland
• Connecting for Health to deliver a comprehensive
  IT infrastructure project for England networks,
  electronic patient records, requesting and
  reporting etc.
• Similar initiatives in the other countries

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Do Once and Share

• Clinicians consult and share their expertise
  nationally to design CfH services
• No universal codes are used
• SNOMED-CT/Read codes do not yet include many rare
  genetic diseases. ICD codes do not meet needs
• A single coding system is needed to link services

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Output Based Specification

• An IT system specification for genetics within
  CfH
• Identified the need for standards
• Led to development of a data standards set for
  genetics
• Main sources NHS Data Dictionary, Government Data
  Standards Catalogue

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SNOMED-CT (Clinical Terms)

• A combination of SNOMED (CAP, USA) and Read codes
  (NHS, UK)
• The mandated terminology standard for the NHS in
  England
• ICD-10 and OPSC4 are classification standards

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HL7

• Health Level 7 (USA), messaging standard, now
  version 3
• Specialises for each country and each application
• Mandated for CfH systems
• HL7 (CfH) part of HL7 (UK) part of HL7
  (International)

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SNOMED, HL7 and Genetics

• SNOMED working group for Genomics led by Yves
  Lussier in US
• HL7 Special Interest Group (SIG) for Clinical
  Genomics led by Amnon Shavo from IBM Haifa

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UK genetics initiatives

• Data standard work/DOAS has identified data
  standards as an area for further work
• UKGTN have studied ICD-10 and are a stakeholder
  in coding development
• Working group proposed to co-ordinate and
  interact with SNOMED/HL7 groups and determine
  solutions for UK genetics service