NHS Sickle Cell & Thalassaemia Screening Programme

2. NHS Sickle Cell & Thalassaemia Screening Programme Marie Coughlin Screening Lead March 29th 2010

3. Today’s Session • Second of 6 Antenatal & Newborn sessions throughout 2010

4. Reasons for Today’s Session • As a result of ChaMPs commissioned review of screening • A need to further engage public health in Antenatal & Newborn Screening Programmes • At the request of public health screening leads • Part of C&M Screening Action Plan • Thought it useful to invite commissioners also

5. Aim of the Session • To increase knowledge base within public health and commissioning

6. Session Format • Overview of UK NSC/NWSHA structure • Overview of Sickle Cell & Thalassaemia Screening • Review of patient pathway • Data, performance and QA • Future developments • Questions/comments

7. Overarching Structure • UK NSC oversees 6 Antenatal & Newborn Screening Programmes • UK NSC has defined accountability & governance structure for SHA, PCT and provider • SHA coordinators with regional and national role • NWSHA coordinators now recruited; 1 x 8a, 1 x 8b – May/June start

8. Sickle Cell & Thalassaemia Screening • Programme was set up in England in 2001 following Government commitment in the NHS Plan (2000) • Is world’s first linked Antenatal and Newborn screening programme • Groundbreaking screening programme, not only reveals a condition but also identifys and systematically communicates carrier status • Screening available at 3 stages: • Men and women can ask for screening before they conceive • Parents offered screening during pregnancy • Babies screened shortly after birth (integrated with newborn bloodspot)

9. Programme Aims • To offer informed choice and to support people with decision-making in line with their beliefs and values • To offer timely screening to women (and couples) before 10 weeks of pregnancy • To identify 50% couples/women ‘at high risk’ by end of 12th week of pregnancy • To achieve the lowest possible childhood mortality and morbidity rates for sickle cell & thalassaemia disorders

10. Sickle Cell & Thalassaemia Explained • Sickle cell & thalassaemia are among England’s most commonly inherited genetic blood disorders.  Sickle cell affects approx 12,500 people with an estimated 240,000 carriers • Around 700 people are affected by major thalassaemia with an estimated 214,000 carriers.

11. Patient Pathway….

12. Sickle Cell & Thalassaemia Rebecca Till Screening Midwife Macclesfield District General Hospital 29th March 2010

13. Aim of Programme • Identify carrier status • Referral • Choices

14. Haemoglobinopathies • Inherited blood conditions • Affects haemoglobin

15. Inheritance Pattern Partner IS a carrier Partner who is NOT a carrier Not a carrier Not a carrier Carrier Carrier

16. Both Parents Carriers Carrier Carrier Affected Child Not a carrier

17. Carrier Status and Risk to Fetus Key: Serious Risk - Refer for counselling and offer prenatal diagnosis  Less Serious Risk - Refer for counselling, further investigation maybe required No Risk - No further action Table based on work of B Modell

18. Sickle Cell • Affects haemoglobin • Oxygen carrying capacity • Normal Hb = HbA • Sickle Hb = HbS

19. Symptoms of Sickle Haemoglobin • Impairs oxygen passage through vessels • Hypoxia/crisis • Anaemia • Infections • Organ damage

20. Treatment • Pain relief • Prevent infections, organ damage and strokes • Hydorxeurea • Bone Marrow Transplant

21. Thalassaemia • Affects haemoglobin production • Life threatening • Life long treatment • Carrier • Thalassaemia major (severe)

22. Effects • Fatigue • Poor appetite • Slow growth • Jaundice • Enlarged spleen/liver/heart • Deformed/weak bones

23. Treatment • Blood transfusions • Chelation • Cure

24. Screening • Universal • High prevalence (> 1.5/10000) • Low prevalence (< 1.5/10000)

25. Screening Process

26. Pathway • Screen 8-10 weeks • Results • Action

27. Normal Result • Continue with pregnancy • Newborn bloodspot

28. Inconclusive Result • Inform woman • Assess risk • Consider partner testing

29. Carrier Result • Inform woman • Confirmation of carrier status • Offer partner screening

30. Affected • High risk pregnancy • Offer partner screening

31. Partner Screening Results Normal • Continue • Newborn bloodspot

32. Partner Carrier • Inform couple • Confirmation of carrier status • Confirmation of risk • Refer as ‘At Risk’ • Offer diagnostic testing

33. Return to Antenatal Care Pathway as high or low risk

34. References • http://sct.screening.nhs.uk/ • http://sct.screening.nhs.uk/professional-resources • http://www.nice.org.uk/nicemedia/pdf/CG62FullGuidelineCorrectedJune2008July2009.pdf

35. Data & Performance • Trusts required to produce annual report – difficult to obtain copies • NSC produce annual report • 2008/2009 annual report in brief: • Due to crossed boundaries, robust patient pathways are crucial • Only 320 couples chose prenatal screening • Challenges engaging primary care in prenatal screening • Around 57% of fathers tested, unclear why number is low • Inadequate IT infrastructure • 350 babies born with sickle cell and over 9000 newborn carriers

36. Findings by SHA

37. Quality Assurance • QA in place for labs • Developing QA for the rest of the service • NWSHA coordinators will focus on QA

38. Future Developments • National office currently going through procurement process for training centres for labs • Status Codes Project underway to improve the link between parents and babies on current IT systems • NW policy being developed on how to improve the inclusion of transfused babies • IT failsafe system being piloted - receipt of sample by lab • Screening master class to include tips on commissioning high quality services – 1 July 2010 in London

39. Questions/Comments • With regard to QA, how do we assure our Boards that local programmes run satisfactorily?

40. Thank You