1. Haemoglobinopathy, a challenge in service design Prevalence very variable Minority communities Little political “ muscle “ English not first language Often low socio-economic status Asylum seekers Seen as “ not our problem “

2. Sickle cell disease is the most common genetic condition in England, with higher prevalence than cystic fibrosis Highest prevalence of SCD occurring in people of African and Afro-Caribbean origin, with birth prevalence as high as 1 in 300 in some areas whilst Thal more common in Asian and Southern European (recessive) Affects an estimated ~10,000 individuals (audit 2008) Reported in more than 1 in 2,000 live births Most common inherited disease of Caucasians ( recessively inherited) Affects an estimated ~8,400 individuals Reported in more than 1 in 2,500 live births Sickle Cell Disease & Thalassemia 1 Cystic Fibrosis 2 In the UK, sickle cell disease is as prevalent as cystic fibrosis – the only difference is in the ethnic group most likely to be impacted 1. Source: Development of transcranial Doppler screening services in England, Dianne Addei, Nov 2007 2. Source: Specialist Services National Definitions Set (2 nd Edition)

3. The Process Define population at risk demographics, numbers and disease what exists at present what do we aspire to,define standards what is the gap how to move from existing services to new clinical units how to maintain /continually improve services

4. Haemoglobinopathy Forum survey of existing resources 65% see 5 or less Sickle per year 88% see 5 or less Thal per year Of 21 units seeing greater than 20 children with Sickle 17 in London Response from 88%

5. ? ? ? ? UK Thalassaemia Register 1999: 807 patients / 164 doctors 71 only 1 attending 772 – 9 patients 12 10 – 30 4> 50 11 doctors @ 9 sites saw 20 or more patients

6. Survey ( cont) of smaller units < 20 per year 76% would treat painful crises but only 40% would treat Acute chest or Priapism Of larger units 14 would refer on for neurologic episode needing MRI and for ICU facilities Only 6 units have facility for TCD

7. Conclusions Services best described as “patchy” Little organisation about who does what Particular concern is links or not of small units Urgent need for standards and agreed networks of care

8. Drivers for change Screening programme Standards for adults and children Treatment/care for long term conditions NCEPOD report into Haemoglobinopathy mortality Haemoglobinopathy coming under SSA remit Patient expectations

9. Super-specialist services eg specifically experienced BMT, fertility clinic Clinic Centre Specialist Team Annual Review Special investigations New treatment options Liaiases with Clinic / GP Clinic undertakes: regular transfusions and pre- transfusion review, offers ready access, prescribes chelation, regular tests. Refers / liaises with Centre Primary care, outreach and community services WORK All need informed front line / A&E staff

10. What is missing Any infrastructure, need agreement on core components Detailed data Tariffs fairly basic Understanding of how they will be supported long term An overview of training and education needs of the networks.

11. Standards Thalassaemia major completed three years ago sponsored by Thalassaemia society multidisciplinary group backing of DH main theme is promoting the development of a patient and family centred service.

12. Sickle Standards Again produced by multidisciplinary group including patient representative group Sickle cell society Themes very similar to Thal Define specialist units and relationship to smaller units Defines good /best practice

13. What exists at present Clinical standards Specialist definition Some very well developed formal and informal groups Commissioner engagement Some excellent practise Registry Goodwill

14. The national strategy for Haemoglobinopathy services would drive improvements in care and services Develop best practice care pathways From: Screening and diagnosis To: Treatment and prevention of major illnesses Involving: health and social care Resulting in : Reduced A&E burden –Support for patients living with HbO Improve service delivery –Design best practice service delivery model to improve consistency and equity of service provision (hospital and community) –Roll out hub and spoke model of service centres to enhance provision –Enhance commissioning –Review funding –Improve training and education (NCEPOD) –Collect and analyse data (NCEPOD) Make available the right care, advice and treatment Tackle inequities Build for the future Design Sickle services for the future –Review workforce requirement (specialist services) –Support national leadership 1 2 3

15. In order to address the unmet needs of sickle cell patients, a comprehensive national strategy is urgently required A national strategy for managing sickle cell disease would deliver multiple benefits … Raise the profile of sickle cell disease across England Drive improvements in care and services With policy makers With clinicians and care providers With commissioners (at both PCT and SCG level Involving patients and the Sickle cell society Design Sickle services for the future Develop best practice care pathways Improve service delivery 1 2 3

16. Objectives Gathering information about individual units on behalf of DH,up to date picture of secondary and tertiary services Performance in key areas against standards Nature of existing clinical networks Nature of present commissioning arrangements Perceived gaps in services and how to improve Inform DH strategy

17. What is in process Peer review Expansion of Registry to include adverse event reporting and annual review Specialist commissioning overview

18. Some themes Inequality both within individual networks and between networks. Access Community/specialist nursing support manpower,psychology particularly poor. Second string to cancer

19. TIAs, Stroke, Coma 9y girl HbSS, previously well, ‘Top of class’

20. Moyamoya Severe stenosis or occlusion of the terminal internal carotid artery / proximal middle cerebral artery with collateral vessels Yoon 2000

21. TCD Great change from 4 years ago Theoretical coverage now good only a couple of areas without firm plans to get in place this year. Challenge now to increase uptake, use of one stop clinics, outreach combined with annual review Training programme tenders now out.

22. Children aged 2 – 6 years Initial TCD Study Normal < 170 cm/s Conditional 170-199 cm/s Abnormal  200 cm/s Restudy 1 year Low Conditional 170-184 cm/s High Conditional 185 -199 cm/s Restudy 4 months Restudy 2 weeks Unchanged 6 months Abnormal 200 - 219 cm/s Abnormal  220 cm/s Restudy 2 weeks Begin transfusion Unchanged 1 year TCD (non-imaging) blood velocity action limits and follow up protocols for sickle cell children aged between 2 and 6 years. (Time-averaged maximum mean blood velocities) The action limits could be 10% lower when using TCDi to allow for the reported differences between imaging and non-imaging techniques.

23. Specialist nursing Probably biggest area of unmet need Need for flexibility in low prevalence areas suggestion that screening has possibly reduced time available from community side.

24. Community support Vast range of arrangements, some excellent,some not ! Good ones typified by leadership and clarity of roles between Acute Trust and community work Little use of new recommendations about planned care packages in long term conditions..

25. Specialist nursing/community Many trusts need to go back and look at what is needed –ask the patients Define existing resource, formalise agreement about who does what Look for resource if not available, Must be seen as a whole package

26. Specialist/community Too often service artificially limited by PCT boundaries. Too often operating as separate teams Need to include patient groups more in design, monitoring problem solving in this area.

27. Access Huge variation, again some very good arrangements in low prevalence Trusts,more easily able to individualise treatment sometimes second string to cancer Many continue to be less than satisfied that A and E performance often based on audit data..

28. Access Open access and use of either dedicated day case or Haematology day case areas seemed to give high level of satisfaction Use of A and E with some for of alert, fast track, patient held care plan, next Lowest level of perceived satisfaction (mainly among providers ) was A and E with no special arrangements.

29. High/Low prevalence Challenges very different How to keep up interest/expertise /training Can often be more flexible Innovative use of components of other services Again leadership key factor.

30. Transition All had arrangements in place Works most easily when adult/Paed service on same site Surprisingly little use of compatible protocols Widespread anxiety/dissatisfaction at services available for the young adult.

31. Neonatal screening All had clear pathways from result to getting result to clinician/family Not an automatic link to larger centre Not always clear whose responsibility to ensure patient actually has been seen.

32. Thalassaemia Distribution very different from Sickle All comfortable with concept of regular review at a larger centre even if already had high Sickle expertise Tendency sometimes to get lost in Sickle numbers

33. Transfusion Little flexibility Minimal use of patient/family orientated transfusion Exchange programmes not readily available Smaller units often able to be more flexible than larger ones

34. MRI T2* Lack of Correlation: Liver and Cardiac Iron LiverLiver

35. Procurement A variety of different arrangements Chelation drugs outside tariff from April 09 so likely that individual application to PCT unless your network negotiates a different arrangement.

37. Networks What should they have in place -- Regular meetings, morbidity/mortality Network audits,performance in key areas Discussion development of at least compatible policies /protocols Defined referral pathways Defined governance responsibilities A forum for patient engagement Data collection

38. Networks Dissemination /development of good/innovative practice Key link with local commissioners ? Investigation of adverse events /incidents Links with a national group Client group involvement

39. What do commissioners want To be offered sensible proposals for all aspects of care in Haemoglobinopathy that are affordable ! To deal with a small number of key groups Not to see a proliferation of “ specialist “ arrangements. They will be looking critically at London, they want a pan London implementation group to develop services in conjunction with professional leads.

40. There are high concentrations of children with sickle cell disease in key cities – particularly London, Manchester and Birmingham Milton Keynes Cambridge Luton London Sheffield Nottingham Leicester Northampton & Kettering Newcastle Leeds Manchester Liverpool Oxford Portsmouth Bristol Birmingham Reading Southampton Plymouth Royal London Great Ormond St Whipps Cross Central Middlesex Whittington University College Royal Free North Middlesex St Mary’s Ealing Hillingdon King’s College Guy’s & St. Thomas’s University Hospital, Lewisham QE Hospital, Woolwich St George St Helier River Thames London 51-100 21-50 <21 >100 Number children with sickle cell disease Unknown BHR Medway Maritime Hosp Mayday University Hospital Source: Sickle Cell Anaemia Survey (May, 2008)

41. There are a number of work areas which have been identified for short-term action to improve treatment of Haemoglobin disorders Enhance service provision Improve training & education Raise the profile Address gaps in TCD provision initially on Regional basis Address shortages in nursing (both hospital and community) and trained TCD ultrasonographers Formulate a plan for direct access to medical advice/care Continue to work on education for doctors, scientists and nurses Improve education – particularly for non-haematologists: -GPs/A&E doctors/Anaesthetists Roll out a comprehensive, national database for capturing and analysing prevalence and treatment data and outcomes (NCEPOD) Capture key data Provide better coordination Ensure full involvement of key stakeholder groups: -Policymakers, commissioners and patients -Royal Colleges including Paediatricians and Nursing -Regular meetings of clinicians with key stakeholders Introduce regional and national roles for coordinating provision of services and best practice sharing via DH then exemplar sites Involve the SC society who have done much in involving and informing patients