2. NHS Blood Spot Screening Programme Marie Coughlin Screening Lead July 26 th 2010

3. Today’s Session Fourth 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 Newborn Blood Spot 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 Warm welcome to NWSHA team – Rebecca Al-Ausi & Sandra Smith

8. North West Screening Team Shelagh Garnett – SHA Screening Lead (Shelagh.Garnett@northwest.nhs.uk) Sandra Smith – NW Antenatal, Newborn & Child Health Screening Lead (Sandra.Smith3@alwpct.nhs.uk)Sandra.Smith3@alwpct.nhs.uk Rebecca Al-Ausi – NW Antenatal, Newborn & Child Health Screening Manager (Rebecca.Al-Ausi@alwpct.nhs.uk)

9. Newborn Blood Spot Screening UK Newborn Screening Programme Centre established in 2002 Centre responsible for providing UK-wide quality assured Newborn Blood Spot Screening Programme Emphasis on patient choice as opposed to uptake rates Objective to create focus and identity for newborn blood spot services Objective to ensure equality of access & reduction of health inequalities

10. Programme Aims To offer informed choice 95% of first samples to be taken 5-8 days after birth 100% of samples to be received by Lab within 4 working days of being taken 95% of blood spot cards to include bar-code label & NHS number Positive results available and referral initiated within 3-4 working days of sample receipt by Lab 100% of babies untested to be identified by 19 days of age

11. Patient Pathway

12. Newborn Blood Spot 5 Conditions Referral processes Pathway

14. Conditions Screened Congenital hypothyroidism (CHT) Phenylketonuria (PKU) Cystic fibrosis (CF) Medium Chain CoA Dehydrogenase Deficiency (MCADD) Sickle Cell (and thalassaemia) SCD

15. Congenital Hypothyroidism Unable to produce thyroxine 1:4000 births (150pa) 2.3/1 ♂/♀ ratio Early diagnosis

16. CHT Pathway Repeat sample ASAP Home visit Referral and treatment by day 21-28 Commence thyroxine Successful IF commenced early

17. PKU Inherited metabolic condition Prevents normal breakdown of protein Impaired brain function Successful dietary treatment Normal life expectancy Incidence = 1.14/10,000 Caucasian 0.11/10,000 Black 0.29/10,000 Asian

18. PKU Pathway Screen positive/suspected Home visit Paediatric referral day 21-28 Effective dietary treatment

19. Cystic Fibrosis Most common life threatening inherited disorder Affects internal organs Life expectancy = 38yrs Early treatment essential Carrier rate = 1 in 25 1 in 2,500 born per year = 5/week 3 die/week

20. CF Pathway Repeat sample day 21-28 Specialist referral 24 hrs Carrier result Results to CHRD

21. MCADD Inherited metabolic disorder Deficient enzyme used for energy transfer Neurological symptoms/damage Fatal 1 in 100 SIDS 1 in 10,000 babies born per year 1 in 80 carrier rate

22. MCADD Pathway Laboratory informs primary care of result Face to face contact within 24 hrs DNA testing obtained Information given Result within 5 working days Referral within 24 hours Effective dietary treatment

23. Sickle Cell Disorders Inherited disorder Abnormal haemoglobin Affects oxygen carrying capacity Malarial origins 1 in 2,400 births 12,500 have disorder 240,000 carriers

24. SCD

25. SCD Conditions HbSS HbSC HbSD HbS/β thalassaemia (β+, β0, δβ, Lepore), HbS OArab HbS/HPFH

26. SCD Pathway Face to face visit Repeat request Results by 28 days Specialist referral Commence treatment

27. Child Heath Records Department (CHRD) Hold information on each child Monitor offer, uptake and coverage Report normal results Identify missing results/babies

28. Pathway

29. Contact details Sandra Smith NW Antenatal, Newborn & Child Health Screening Lead (Coordinator) 01942 481709 07901 517252 Sandra.Smith3@alwpct.nhs.uk Rebecca Al-Ausi NW Antenatal, Newborn & Child Health Screening Manager (Deputy) 01942 481698 07810 506043 Rebecca.Al-Ausi@alwpct.nhs.uk http://www.screening.nhs.uk/bloodspot-england

30. The Newborn Blood Spot

31. Data & Performance Trusts required to produce annual report – difficult to obtain copies UK Newborn Screening Centre produce an annual report – Details on next few slides

32. Laboratory Denominator Data 2008/9

33. Enhanced Tracking Abilities 2008/9

34. Timely Sample Collection 2008/9

35. Timely Sample Dispatch

36. Liverpool Lab Screening Numbers 2008/9 (cards without NHS number – 4,087)

37. Avoidable Repeat Rates 2008/9

38. Quality Assurance Limited QA process in place, mostly with QA of Laboratories Focus will be on timeliness of testing & follow-up NWSHA team to develop comprehensive QA programme

39. Key Challenges for the Programme Many samples for transfused babies not being taken Poor quality of samples received by Lab leading to high repeat rate Newborn Label Project; difficult to obtain local IT support

40. Future Developments Bar-code project Comprehensive QA processes

41. Questions/Comments With regard to QA, how do we assure our Boards that local programmes run satisfactorily? Set of recommendations re Trust data issue for all 6 programmes has been submitted to C&M DsPH and DoCs

42. Thank You