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NHS Sickle Cell and Thalassaemia Screening Programme sct.screening.nhs.uk
NHS Sickle Cell and Thalassaemia Screening Programme
Allison Streetly
Programme Director
Stirling 2009
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English national antenatal & newborn programmes
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English regions
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Thank-you
to all those involved, known and not known, who have supported the
implementation of the programme and developments
thus far…a long journey to acceptance
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Format of the talk
• Introduction and context in England
• What we have done so far
• What the lessons are for others in UK & Europe
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1. Introduction
• Genetic Context of UK
Roman and Norman invasions
Maritime history Spanish Armada
Slaves in the UK
20 C Migration - Cyprus,Caribbean, India and Pakistan for workforce
21 C - Econonic migrants - Africa and E Europe
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1. Introduction
Evidence base to support screening- 2 HTAs support “selective” newborn and antenatal screening- NSC universal support for newborn screening late1999- NSC had not considered antenatal screening (informally suggested
thal screening & not Sickle)
2000 “unexpected” NHS Plan commitment
Lobbying for c.20 years prior to this (inc
SMAC report and various other reports from
early 80s.)
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the end is the beginning
by 2004 “a new national linked antenatal and
neonatal screening programme for haemoglobinopathy and sickle cell disease” ….as part of expansion of women and childrens’ screening programmes
NHS Plan Chapter 13 (England)
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1. Introduction
• UK countries
England - screening implemented, plans for care
Scotland - plan for screening & care
Wales - antenatal screening
Northern Ireland - plan for newborn sc
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Ethical frameworks
• To offer informed choice need to include a choice to have an affected baby
• This means ensuring the services to support the patients are available
• In UK we can “afford this choice” in less rich countries the cost issues drive decisions more acutely.
• In the UK the expectation for affected infants is greater than other countries
• Respect needed for each persons choice
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England - Estimates of need:
• Pregnant carriers each year = 12,500
• Couples at risk = 1,200 (250 PNDS pa)
• Affected conceptions = 250-300 HBOs
(60 thal rest sickle)
Sickle cell patients = 12,500
Thalassaemia patients = 800
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2. What we did/do
Policy – development and endorsement
Implementation – plan, plan, plan- expected numbers disease & carriers- standards & protocols for LINKED programme- funding- laboratory services in place and counselling- communication- training and education
Quality Assurance – data and IT systems
Evaluation – ongoing - lessons
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What we have done so far
Newborn screening for sickle cell disease - Fully implemented universal programme in
England - 2006- Scotland plans to implement by 2011 (pilot of the
family origin questionnaire as a screening tool)
- Wales is making a case – tbc
- Northern Ireland is plans to introduce by 2010/11 tbc
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What we have done so far
Newborn screening for sickle cell disease 350 affected babies a year = 1:2000All regions have casesApproximately doubling affected cases identified
including in areas with no services
9500 carriers – more widely distributed and in the indigenous population
Rapidly audits the antenatal programme (for S, C, D & E).
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Newborn Carrier* rates by ethnic category**: 2005 to March 2007
Rate per 1000 screened babies
White British• 1.8 (1.75-1.95)
White Irish• 3.0 (0.61-5.46)
Black African• 144.3 (141.33-148.14)
• HARDY WEINBERG LAW IS USEFUL
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What we have done so far
Antenatal screening for sickle cell and thalassaemia
- Completed implementation in England – autumn 2008
- Scotland – active planning - Wales has a programme – is aligning with
England Family Origin Questionnaire
- Northern Ireland considers this too sensitive for religious reasons
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England - update
• Antenatal screening
- High Prevalence – mostly already doing something – alignment more challenging
- Low prevalence – successful model of implementation – traffic light scheme to ensure all processes in place before programme approval to go live – report due
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Implementation update
• Laboratory surveys – Scotland has repeated
• National Institute of Clinical Excellence - endorsement
8-10 weeks ideal for antenatal testing
recommends pre-conceptual counselling and testing using FOQ (preconception care at policy stage)
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Distributions for gestational age at first pregnancy confirmation visit and SCT screening before
intervention0
51
01
5P
erc
en
t
0 4 8 12 16 20 24G esta tiona l age (weeks)
pregnancy con firm ation visit
screen ing test
n=1441
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Policy for antenatal screening
• All to offer an antenatal screening programme and thalassaemia screening with women being informed about this.
• High prevalence trusts to offer enhanced laboratory screening for all women for haemoglobin variants (sickle foetal prevalence est >1.5/10,000)
• Low prevalence trusts – phased implementation of screening using a family origin question (evaluation in seven low prevalence sites – ETHNOS report).
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FOQ
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Data suggests problems with informed choice
Based on newborn data we expect:• 1300 at risk couples
• 600 couples to opt for prenatal diagnosis
• But uptake of PND is: – 245 in 2004 – 320 in 2007/08 (26 % by 11 weeks)
Implication: screening is offered too late for PND to be real option so impeding choice – especially in some minority groups – and % by 11 weeks unchanged although number of pnds up
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3. Lessons
• Difficult without national level support• Clear aims and objectives essential • Plan implementation – resources, timescale,
standards and communication • Allow time for planning, policy and standards• Understand epidemiology – planning for extra • Sensitive to the relevant communities – e.g.
language (control and prevention are sensitive words) and wider context of patient care (ethical framework) which is very important
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Lessons - continued
• Ensure mainstreaming (see over)• Technical aspects to be attended to – UK has
good experience and a good model to offer• Information and IT – outstanding problem in
England – hinder LINKAGE• Maternity care needs to link to primary care and
offer testing early enough (8-10 weeks problem)• Experts advise but are not expert impementers
of screening services• Care networks very important
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Lessons for others c’td
Mainstreaming
Newborn screening – part of existing bloodspot programme
Antenatal screening – part of routine antenatal care
Preconceptual testing – as part of whole package – including issues of consanguinity in general
Care Networks – specialist care backed up by DGH and community care
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Community Engagement
• essential
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Community Engagement
• ministerially appointed Lay Chair• links to national voluntary sector & users• professional education – preparation • developing community engagement• work with regional and national media• lobbying in Westminster for national clinical
network for haemoglobinopathies – inequalities and inequities across England
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Vision for the future
• margins to mainstream• common single gene disorders- primary care
engagement • Linkage across whole lifecycle better• cultural and linguistic sensitivities better
addressed • improved levels of awareness and
understanding by public and professionals• Screening linked with clinical network
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Vision for the future
• Whole programme is delivered as an integrated whole from the patients perspective
• Professionals find satisfaction and reward in delivering a high and improving quality service
• Public and populations affected find the programme acceptable and value for money – engagement
• Margins to the mainstream – diversity issues addressed
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Future developments
• Continue journey & report results • Working with communities, users and
voluntary sector – “community engagement”• developing the best screening programme
possible linked to services for those with these conditions
• a world leader – first linked programme
• WHO resolution and support to Africa
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Thank-you for inviting us
• Hope this has been helpful
• good luck on your journey
• develop your timetable to focus the work
• Share plans and use our experience
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Materials• Pre-screening leaflet redone – part of antenatal
pack produced by NSC• Newborn carrier leaflets – available• Translations – 28 Languages leaflets and/ or
audiotapes where relevant• PEGASUS - FLP materials (http://www.pegasus.nhs.uk/)- PH materials
(http://www.pegasus.nhs.uk/phnpolicy/menu.htm)- specialist counselling courses
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Materials for professionals
Most available on Programme website:www.sct.screening.nhs.uk/publications.htm• Laboratory handbook• UK Forum Clinical guidelines• Re-issue of external authored parent
handbook for SCD (thalassaemia one due)• Programme Standards and Guidelines
• ROCR return
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Contact details
• Allison Streetly• [email protected]• Tel: +44 20 7848 6634• Fax: +44 20 7848 6620• http://sct.screening.nhs.uk