Icd10 revision process and rare diseases Ségolène Aymé

ICD10 revision process and rare diseases

• Ségolène Aymé

• WHO Topic Advisory Group

• on Rare Diseases

ICD Revisions

ICD Revision Process

• Drafting

• Taxonomic Guidelines
• Definition, Diagnosis and Indexing / mapping guidelines

• Overall Structure

• Individual Chapters

• Overseeing the TOTAL ICD

• ALPHA Draft – structured comments
• BETA Draft – field testing

• Final Draft

• WHA Approval

ICD Revision Work Streams

• Scientific Stream

• Evidence Based Reviews, Meta analyses
• Surveys,Validation Studies
• Add-on protocols for existing studies

• Clinical Stream

• Clinical utility – linkage to patient reports
• Treatment Response
• Phenotypes: gene to behaviour specs

• Public Health Stream

• Impact on Health Systems –society –service delivery
• Resource management -reimbursement - accounting
• IT applications - terminology

Core Classification issues

• Definition of the classification entity:

• medical disease, disorder (syndrome), injury, sign, symptom, …

• Clustering of signs, symptoms, & operational features

• Link to underlying pathophysiology & genetic markers

• Clinical utility of the classification entity

• Reliability of the classification entity

• Validity of the classification entity

• Separation of disease and disability elements

• Cultural elements that need to be attended

• Threshold considerations

• Other nosological issues relevant to this disorder

ICD Revision Applications

• As a part of ICD Knowledge Portal three main applications:

• ICD-10 + Application

• ICD-11 Draft Creation

• (ICD – Terminology/Ontology Tools )*

• Possibly for display – not directly for WEB entry

ICD Revision Applications

• ICD-10 + Application

• Designated Scientific Group Review
• Systematic reviews
• Scientific, Clinical, Public Health Streams
• Taxonomic rules & definitions
• Open Comments and suggestions
• Periodic Continuous Structured peer review
• requested by WHO
• Open to whole world – all users

ICD Revision Applications

• 2. ICD-11 Draft
• Codes
• Inclusions ( all historical links, index terms)
• Exclusions
• Definition of the entity
• Disease, disorder, injury, syndrome, sign, symptom
• Level of use ( Primary Care, Clinical Care, Research)
• Glossary description
• Taxonomic ontology status
• Diagnostic Criteria for the entity
• Clinical and/or research rules for diagnosis

Composition of TAG

• Europe
• Ségolène Aymé (TAG chair), Ana Rath (Orphanet)
• North America
• Stephen Groft (Office of RD-NIH)
• Roberta Pagon (GeneClinics, University of Seatle)
• South America
• Eduardo Castilla (Clearinghouse of birth defects, Brazil)
• Australia
• Agnes Bankier (Possum, Murdoch Institute)
• Asia
• Hyun-Young Park (NIH, Genetic and rare diseases center, Seoul)

What is ongoing

• Chapter by chapter comparison between

• ICD-10
• Orphanet classification
• Published classifications (when available)

• List of proposals for ICD-10+

• Proposal for ICD-11 for the chapter

• An information scientist was recruited to assist submitting proposals (contract RDTF secretariat 2009-2011)

Orphanet analysis

• Lack of systematic approach

• Classification according to major symptom
• Classification according to aetiology / mechanism

• Confusion between anatomy / organs and

• Systems

• Respiratory system, cardiovascular system, immunological system……

• Confusion between « malformation » and « congenital » and « genetic »

Proposal for general principles

• Based on published classifications and on past experience in coding at Orphanet

Organisation of Chapters

• By system

• based on physiology
• Etiology/mechanism being the final level
• From the « upper level »  to the « lower level »

• Addition of a chapter for mutisystemic diseases

• Ex: Marfan syndrome is a multisystemic disease

• Chapter for prenatal developmental defects (not only malformation) as in utero development is a process- a « system »)

ICD-11 proposals

• A dossier with the rationale for proposals is established

• The definitional items chart (WHO) is fullfilled for each disease

• The dossier is submitted

• to identified best experts by Orphanet and by other TAG members

• A final proposal will be sent to WHO, chapter by chapter, one every month

ICD10+ proposals

• Each proposal is

• qualified following the WHO revision tool
• justified (literature)

• Orphanet input on the ICD10 revision

• based on already validated subclassifications

• Experts for the specialty ( Official networks / Societies / Associations)

• informed in order to add their contributions to the revision process

Networks of experts in Europe

• EUROCAT (congenital malformations)

• ENERCA (congenital anemias)

• SCN (severe congenital neutropenias)

• EUROMUSCLENET (myopathies)

• CAUSE (CHARGE et Usher)

• EINPRDP (rheumatic paediatric diseases)

• IDR (immunodeficiencies)

• TEAM (adult metabolic diseases)

• European Autism Information System (Autistic disorders)

• RARECARE (rare cancers)

• TREAT-NMD (neuromuscular diseases)

• EUROGLYCANET (glycosilation disorders)

• GENESKIN (skin genetic diseases)

• SKINTHERAPY (epidermolysis bullosa)

• CONTICANET (connective tissue cancers)

• HISTIONET

• ……….

Conclusions

• Possibility to propose a profound evolution of the organisation of chapters II to XVIII

• With a possible migration of almost all existing codes
• With a common logics applied to all chapters
• Putting rare diseases where they should be
• Everywhere as a lower node

• Chapter on Haematology is already available

• Draft proposal by Orphanet to be sent to TAG members for dissemination to experts
• Please look at our proposals on the WHO website

• Production of one chapter per month