Enhancing Public Health Engagement in the Newborn Blood Spot Screening Programme

2. NHS Blood Spot Screening Programme Marie Coughlin Screening Lead July 26th 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) 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. 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 Contact details 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