Sickle Cell Disease: Newborn screening in France and the UK - Jacques Elion
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This document discusses the comprehensive care programs for sickle cell disease (SCD) in the United Kingdom and France. It describes the establishment of newborn screening programs for SCD in both countries in the late 1980s/early 2000s. It also outlines national registries, specialized treatment centers, and clinical standards/guidelines that have been implemented to improve care for SCD patients. The document analyzes outcomes data from these programs, showing improvements in early diagnosis, treatment, and survival for children with SCD.
Sickle Cell Disease: Newborn screening in France and the UK - Jacques Elion
- 1. Sickle Cell Disease: Newborn screening in France and the UK Jacques Elion, MD, PhD French National Reference Centers for Sickle Cell Disease Department of Medical Genetics and Inserm UMR 1134 Robert Debré Mother and Child University Hospital, 75019 Paris, France Guadeloupe University Hospital, 97139 Les Abymes (French West Indies) [email protected] GLOBAL GLOBIN 2020 CHALLENGE Paris May 30-31, 2016
- 2. European Union 27 countries population 510 millions
- 3. French Antilles Guadeloupe Martinique French Guiana population 1 million Réunion & Mayote islands population 1 million European Union population 490 millions EU ultraperipheral regions Azores, Madeira & Canarias islands population 2,5 millions
- 4. In Europe, SCD is both: - endogenous Greece Southern Italy (Sicily…) Portugal - exogenous with populations originating from Africa or the Carribean islands Middle East and the Arabic peninsula Indian sub-continent … SCD is not only a disease of black populations!
- 5. Royaume Uni Pays-Bas Espagne Portugal Belgique Allemagne France Italie Grèce Irlande Luxembourg Danemark Norvège Suède Finlande βS Caribbean and French Guiana African immigration
- 6. Trends in at-risk populations (% pop) 1988 / 2006 Adapted from Modell et al, Scan J Clin Lab Invest 2007; 67: 39-70
- 7. European Union 27 countries population 510 millions France and the UK: Highest absolute nb of patients ≈ 15.000 SCD patients/each Most frequent genetic disease
- 8. Geographical distribution of SCD in England: NHR registrations by 2016
- 9. 26 102 85 2560 30 34 53 6 9 38 20 92 88 14 55 20 1545 Réunion Guyane Mayotte Guadeloupe Martinique 49 46 192 10 years of NBS for SCD in France Incidence 1/1881 Paris 1/814 Guiana 1/196
- 10. Haemoglobinopathy NBS in the UK • National Health Service-1941 • National Haemoglobinopathy Screening Programme - 2001 • Centralised commissioning of Specialised Haemoglobinopathy Services 2008
- 11. Global care for SCD in France • Social Security - 1945 • National Sickle Cell Disease NBS Screening Program - (1989) 2000 • Reference/Competence Centres 2005 Ntnl Rare Disease Program • Comprehensive Health Networks for Rare Diseases 2014 Filières de Santé – Maladies rares
- 12. Global care for SCD in France • Social Security - 1945 • National Sickle Cell Disease NBS Screening Program - (1989) 2000 • Reference/Competence Centres 2005 Ntnl Rare Disease Program • Comprehensive Health Networks for Rare Diseases 2014 Filières de Santé – Maladies rares targetted to the newborns at risk
- 13. 26 5,52% 102 13,75% 85 15,65% 2560 62,97% 30 14,88% 34 18,33% 53 31,20% 6 19,74% 9 16,28% 38 30,59% 20 41,62% 92 43,20% 88 11,23% 14 21,71% 55 17,71% 20 19,12% 1545 81,40% Réunion Guyane Mayotte Guadeloupe Martinique 49 22,48% 46 14,47% 192 31,49% 10 years of NBS for SCD in France Targetting 2000 → 2010 19,1% → 31,5%
- 14. Courtesy of Béatrice Gulbis
- 15. SCD Genotypes NBS in the Parisian area (cumulative results 2000-2010) 0 100 200 300 400 500 600 700 800 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 SS SS (ou) Sb°Thal Sb°Thal Sb+Thal SC S/E S/D punjab A/S antilles AS ou Sb+Thal S/PHHF
- 16. Linked antenatal and neonatal haemoglobinopathy screening programme (UK): 2001 Aims: •To support people to make informed choices during pregnancy and before conception •To improve infant health through prompt identification of affected babies •To provide high quality and accessible care throughout England •To promote greater understanding and awareness of the disorders and the value of screening
- 17. Programme standards: Antenatal screening • All pregnant women offered screening by 10wks gestation • All fathers of carrier women’s babies offered information, counselling and testing • 50% of all prenatal diagnoses to be performed by 12 weeks and six days of gestation
- 18. Programme standards: Antenatal screening • All pregnant women offered screening by 10wks gestation (in France Pilot programs) • All fathers of carrier women’s babies offered information, counselling and testing • 50% of all prenatal diagnoses to be performed by 12 weeks and six days of gestation
- 19. Programme standards for antenatal screening (UK) •Pregnant women should be tested before 10 wks gestation National Haemoglobinopathy Screening Programme Data report 2013-14
- 20. National Haemoglobinopathy Register (UK) • About 75% of patients registered • National data on treatment (hydroxyurea/transfusion/ BMT) • Reporting of SAE’s • Annual review
- 21. National Haemoglobinopathy Register (UK) • About 75% of patients registered • National data on treatment (hydroxyurea/transfusion/ BMT) • Reporting of SAE’s • Annual review In France: - National registry for thalassaemias (since 2010) - no National SCD Registry yet (should start in 2017)
- 22. Sickle Cell and Thalassaemia Data Report 2013/14 Trends and performance analysis
- 24. Programme standards for antenatal screening (3) • 50% of all prenatal diagnoses to be performed before 13 weeks National Haemoglobinopathy Screening Programme Data report 2013-14
- 25. Programme standards for antenatal screening (2) •All fathers of carrier women’s babies offered information, counselling and testing National Haemoglobinopathy Screening Programme Data report 2013-14
- 27. Newborn Outcomes Project (March 2016) Evaluation of Linked Antenatal and Newborn Sickle Cell and Thalassaemia Screening Programmes Sickle Cell and Thalassaemia sct.screening.nhs.uk
- 28. Newborn Outcomes Project Main aims of the programme: Are babies seen in clinic by three months of age? Are babies prescribed penicillin by three months of age? Is the screening test confirmed? Overall mortality/are any deaths < 5 years sickle cell related? Review completeness and accuracy of the mothers antenatal screening results
- 29. Overview of Babies Registered: Sept 1st 2010 – Dec 31st 2015 Table 1: All babies registered (n = 1788) N Sickle Cell 1378 Thalassaemia 142 Unconfirmed 37 Migrated 62 Insignificant 150 Born Abroad 19
- 30. Overview of Sickle Cell Cases Table 2: Confirmed cases in follow-up, (n = 1378) Data In Follow-up (%) Seen 1351 (98.0) ≤ 100 days 1170 (86.6) 101 ≤ 130 days 94 (6.9) 131 ≤ 160 days 36 (2.7) > 160 days 51 (3.8)
- 31. Overview of Sickle Cell Cases Table 3: Distribution of confirmed cases, (n = 1378) Diagnosis N (%) In Follow-up (%) SS 885 (64.2) 868 (98.1) SC 386 (28.0) 378 (97.9) S/β+thal 68 (4.9) 68 (100.0) S/β⁰thal 8 (0.6) 8 (100.0) S/δthal 2 (0.1) 2 (100.0) S/HPFH 23 (1.7) 22 (95.7) S/Dpunjab 2 (0.1) 1 (50.0) S/E 3 (0.2) 3 (100.0) S/Lepore 1 (0.1) 1 (100.0)
- 32. Overview of Sickle Cell Cases Table 4: Geographical location of confirmed cases, (n = 1378) Centre N (%) In Follow-up (%) Birmingham 96 (7.0) 95 (99.0) Bristol 22 (1.6) 21 (95.5) Cambridge 6 (0.4) 6 (100.0) Leeds 37 (2.8) 37 (100.0) Liverpool 9 (0.6) 9 (100.0) London 998 (72.4) 973 (7.5) Manchester 62 (4.5) 62 (100.0) Newcastle 8 (0.6) 8 (100.0) Oxford 60 (4.3) 60 (100.0) Sheffield 70 (5.1) 70 (100.0) Southampton 10 (0.7) 10 (100.0)
- 33. Overview of Sickle Cell Cases Table 5: Ethnic Origin of confirmed cases, (n = 1378) Ethnicity N (%) African 972 (70.5) Asian 4 (0.3) Black (other) 83 (6.0) Caribbean 143 (10.4) Indian 10 (0.7) Mixed (black) 45 (3.3) Mixed (other) 24 (1.7) Pakistani 2 (0.1) Other 17 (1.2) White 13 (0.9) Unknown 65 (4.7)
- 34. Overview of Mortality Deaths due to complications of SCD occurred after 1st year of life 1.3 deaths per 1000 years follow-up 0.1 death per 100 children affected Standard met
- 35. Overview • Epidemiology of SCD in UK • Highlights in developing healthcare services for SCD in England • Review of current data from National Haemoglobinopathy Screening Programme • Care for SCD in the UK
- 36. Evolution of national programme for clinical care – Specialised service definition for central commissioning of services 2008 – Regional specialist centres and clinical networks – Published guidelines and and key performance indicators – Peer review of Specialist centres
- 37. Audit Standards for Sickle • Pneumococcal vaccination • Oral penicillin V prophylaxis • Annual transcranial doppler screening age 3-16 • Retention under follow-up Standards for the Clinical Care of Adults with Sickle Cell Disease in the UK 2008 CareBook.qxd:Layout 1 2 /7/08 09:03 Page 2
- 38. Improving survival in childhood Quinn et al, Blood 2010
- 39. Complication rate E.London neonatal cohort. Telfer et al, Haemtologica 2007
- 40. Causes of death in adults with SCD 0% 10% 20% 30% 40% 50% 60% 70% 80% 90% 100% Platt et al, 1994. N=209 Powars et al, 2005. N=186 Perronne et al, 2002. N=61 NCPOD 2008. N= 40 Not known Unrelated to sickle suddenly at home Perioperative Chronic organ damage CVA Acute infection Acute vaso- occlusive
- 41. National Confidential Enquiry into Patient Outcome and Death: 2008
- 42. 19 deaths in cases admitted in pain • Excessive opiates in 9 • Overdose leading to death in 5 • No assessment of pain and opiate adverse effects in 13
- 43. Potential risk factors for early mortality in England • Substandard medical care • Poor transitional care • Lost to follow-up • Psychosocial problems • Low socioeconomic status
- 44. National Peer Review of Specialist Centres 2008 Paediatric; 2013: Adult; 2015: Paediatric and adult • Gradual improvements in meeting standards • Data collection is a problem • Insufficient staff numbers • Patients not always engaged or satisfied with aspects of services
- 45. Conclusions • SCD is a very common inherited condition in UK • It is almost entirely restricted to ethnic minority groups • There has been a gradual evolution in national services for SCD • Care within the NHS can be considered comprehensive • There a still challenges for achieving and maintaining high quality care.
- 46. Thank you very much! Merci! Acknowledgements: Rupa Sisodia (Newborn Outcomes Project) sct.screening.nhs.uk
- 48. Comprehensive care programme for Sickle Cell Disease in the UK Dr Paul Telfer Senior Lecturer in Haematology, Barts and The London School of Medicine, Queen Mary University of London Consultant Paediatric and Adult Haematologist, Royal London Hospital, Barts Health NHS Trust
- 49. Overview • Epidemiology of SCD in UK • Highlights in developing healthcare services for SCD in England • Review of current data from National Haemoglobinopathy Screening Programme • Review of data on clinical care in UK
- 50. Overview • Epidemiology of SCD in UK • Highlights in developing healthcare services for SCD in England • Review of current data from National Haemoglobinopathy Screening Programme • Care programmes
- 51. Sickle Cell Disease in the UK From Piel et al, Nat Genetics 2010
- 52. Overview • Epidemiology of SCD in UK • Highlights in developing healthcare services for SCD in England • Review of current data from National Haemoglobinopathy Screening Programme • Care programmes
- 53. National Health Service Act 1946 • Services provided free at the point of use • Services financed from central taxation • Everyone eligible for care (even people temporarily resident or visiting the country).
- 54. Overview • Epidemiology of SCD in UK • Highlights in developing healthcare services for SCD in England • Review of current data from National Haemoglobinopathy Screening Programme • Care programmes