December 5 th Brussles EAP Winter meeting WG Rare diseases 9.00 - 9.30 - Attendance and appologies -Minutes, Meeting Rzesow, May 2014 -Report on FP7 Rare Best Practice - Guideline appraisals- RBP WP 4 request - Pilot Guideline WP 3 "catastrophic antiphospholipid syndrome ” - Coordination and Dissimation : networking and meetings -Report on EU Commission Expert Group on Rare Diseases Groupings and Codes -Next steps and meetings : Workshop AGREE Oslo meeting -Any other bussiness
Appraising rare disease guidelines Jenny Harbour Evidence and Information Scientist Healthcare Improvement Scotland
Overview EU funded Rare Best Practices project (running until Dec 2016) WP4 responsible for creating a database of rare disease guidelines Requires guideline identification, retrieval and appraisal to create a model collection We need your help!
Clinical topics Initial model collection will be based on 44 rare diseases The following topics likely to be available for appraisal first: Congenital cataract Cystic fibrosis Epidermolysis bullosa Noonan syndrome Wolfram disease Full list available on request from jenny.harbour@nhs.net
Addison’s disease 1 12 Congenital cataract 23 Herpes simplex 34 Noonan syndrome encephalitis Klinfelter’s syndrome 2 Alstom disease 13 Congenital 24 35 Osteosarcoma myasthenias 3 Anal atresia 14 Costello syndrome 25 Joint hypermobility 36 Paroxysmal syndrome haemoglobinuria Cushing’s syndrome Huntington’s disease 4 Aniridia 15 26 37 Phaeochromocytoma Cushing’s disease 5 Bardet Biedl 16 27 Long QT syndrome 38 Phenylketonuria disease 6 Biliary atresia 17 Cystic fibrosis 28 Lichen sclerosis 39 Porphyrias Hirschsprung’s disease 7 Brucellosis (human) 18 Duchenne muscular 29 40 Progressive subnuclear dystrophy palsy 8 Carcinoid syndrome 19 Epidermolysis bullosa 30 Lyme disease 41 Turner syndrome Gaucher’s disease 9 Catatrophic 20 31 Mitochondrial disease 42 Spinal muscular atrophy antiphospholipid (multiple disorder) syndrome 10 Coarctation of the 21 Giant cell arteritis 32 Multiple myeloma 43 Phaeochromocytoma aorta in the newborn 11 Congenital 22 Hereditary spastic 33 Myasthenia gravis 44 Wolfram disease anaemias paraplegia (Strumpell- Lorrain disease)
Guideline appraisal Appraisal of rare disease guidelines will be use AGREE II tool (www.agreetrust.org) Additional guidance available on applying AGREE II criteria to rare disease guidelines Could you appraise rare disease guidelines using AGREE II? If you would like to become involved in appraisal of guidelines for the Rare Best Practices project please contact jenny.harbour@nhs.net Rare Disease WG EAP (Liesbeth Siderius) : e.siderius@kpnplanet.nl
December 5 th Brussles EAP Winter meeting WG Rare diseases 9.00 - 9.30 - Attendance and appologies -Minutes, Meeting Rzesow, May 2014 -Report on FP7 Rare Best Practice - Guideline appraisals- RBP WP 4 request - Pilot Guideline WP 3 "catastrophic antiphospholipid syndrome ” - Coordination and Dissimation : networking and meetings - Report on EU Commission Expert Group on Rare Diseases Groupings and Codes -Next steps and meetings : Workshop AGREE Oslo meeting -Any other bussiness
Recommendation on Ways to Improve Codification for Rare Diseases in Health Information Systems Commission Expert Group on Rare Diseases 12-13 November 2014 Statement about the rare disease coding issue Improved codification for rare diseases Council Recommendation on an action in the field of rare diseases (2009) to trace patients with rare diseases in health information systems on a national and international level. Help European and national health authorities knowledge of healthcare pathways and of their impact on specialised health care services on a country’s budget planning for health and social service. The International Classification of Diseases (ICD10) and SNOMED limited number of codes for specific rare diseases. Effective coding would also provide data for clinical research which is needed in this field. Currently over 5000 rare diseases are listed in the beta version of ICD11. MemberStates will consider the use of Orphacodes in their health acre systems.
The Commission Expert Group on Rare Diseases recommends the following: 1. The lack of data about rare diseases, due to the absence of codes for most rare diseases, deserves a special effort in epidemiology to make rare diseases more visible in the healthcare systems, in parallel with the ongoing process to incorporate codes for rare diseases in ICD and SNOMED-CT, as this process will not provide full results before severalyears. 2. An analysis of the number of rare diseases currently coded by each ICD national extension system should be conducted to have a documented picture of the coding situation. 3. The Orpha codes should be further promoted within the development process of WHO’s ICD11, in order to allow a seamless transition of RD classification from Orpha codes to ICD- 11 when the latter is finally released. 4 . MSs interested in using the Orpha codes should set up a working party to define the optimal strategy and the next steps at country and at EU level. This effort should involve representatives of the national and regional coding agencies to explore the details and reach a consensus on solutions to be proposed. It should also involve key stakeholders of the eHealth community, of relevant services at the EC (including the Joint Research Centre Registration Platform), rare disease patient registries , current organisations involved in the development of solutions (Orphanet, DIMDI, BNDMR), and patient organisations . 5. On this basis, MSs should consider adding Orpha codes to their country’s health information system and explore the feasibility and resources needed to do so. Rare diseases codification should be included in MS National Plan for Rare Diseases. 6. Interested MSs together with the Commission should seek possibilities to support, at EU level, the implementation process of the identified solutions.
Table 1: Possible Grouping of RD for Future ERNs based on areas of overlap in systems outlined in preparatory document (see appendix) plus ICD10 classification 1. Rare cardiac diseases (with rare cardiac malformations ERN included or separate) 2. Connective tissue RD, and musculoskeletal (Rare rheumatological diseases) 3. Rare hereditary metabolic disorders 4. Rare haematological diseases 5. Rare diseases of brain development and rare intellectual disabilities Suggested groupings of rare diseases 6. Rare auto-immune and auto inflammatory diseases 7. Rare cancers How does this relates to the Medical 8. Rare hepatic diseases Home ; multidisciplinairy aproach; 9. Rare gastrointestinal diseases co management?? 10. Rare neurological diseases 11. Rare neuromuscular diseases 12. Rare skin disorders 13. Rare pulmonary diseases (with Cystic Fibrosis ERN included or as additional ERN ) 14. Rare malformations and developmental anomalies 15. Rare endocrine diseases 16. Rare urogenital diseases 17. Rare renal diseases 18. Rare multi-systemic vascular diseases 19. Rare head and neck diseases 20. Rare gynaecological and obstetric diseases 21. Rare eye diseases 22. Rare orthopaedic diseases 23. (Rare surgical thoracic diseases) 24. (Rare surgical abdominal diseases) 25. (Undiagnosed group)
Category Network Diseases Rare hematological ENERCA - European Network for Phosphoglycerate kinase deficiency Diseases (4) Rare and Congenital Anaemias Pyrimidine 5 nucleotidase deficiency Pyruvate kinase deficiency Sickle cell anaemia Sickle cell trait Sideroblastic anaemia associated with ataxia SLC25A38-related Sideroblastic anaemia Thiamine-responsive megaloblastic anemia Triose phosphate isomerase deficiency Unstable haemoglobin Wolfram Syndrome Rare hematological EN-RBD - Rare Bleeding Diseases (4) Disorders Rare neurological NEUROPED - European Network diseases of Reference for Rare Paediatric (10) Neurological Diseases
December 5 th Brussles EAP Winter meeting WG Rare diseases 9.00 - 9.30 - Attendance and appologies -Minutes, Meeting Rzesow, May 2014 -Report on FP7 Rare Best Practice - Guideline appraisals- RBP WP 4 request - Pilot Guideline WP 3 "catastrophic antiphospholipid syndrome ” - Coordination and Dissimation : networking and meetings -Report on EU Commission Expert Group on Rare Diseases Groupings and Codes - Next steps and meetings : Workshop AGREE Oslo meeting -Any other bussiness
The 67th World Health Assembly adopted a resolution endorsing the WHO global disability action plan 2014 – 2021: Better health for all people with disability
Recommend
More recommend
