NHS Sickle Cell and Thalassaemia Screening Programme sct.screening.nhs.uksct.screening.nhs.uk NHS...

NHS Sickle Cell and Thalassaemia Screening Programme sct.screening.nhs.uk

NHS Sickle Cell and Thalassaemia Screening Programme

Allison Streetly

Programme Director

Stirling 2009

sct.screening.nhs.uk 2

English national antenatal & newborn programmes


English regions


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


Format of the talk

• Introduction and context in England

• What we have done so far

• What the lessons are for others in UK & Europe


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


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.)


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)


1. Introduction

• UK countries

England - screening implemented, plans for care

Scotland - plan for screening & care

Wales - antenatal screening

Northern Ireland - plan for newborn sc


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


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


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


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



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).


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



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


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


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)


Distributions for gestational age at first pregnancy confirmation visit and SCT screening before

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0 4 8 12 16 20 24G esta tiona l age (weeks)

pregnancy con firm ation visit

screen ing test

n=1441


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).


FOQ


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


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


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


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


Community Engagement

• essential


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


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


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


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


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


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


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


Contact details

• Allison Streetly• [email protected]• Tel: +44 20 7848 6634• Fax: +44 20 7848 6620• http://sct.screening.nhs.uk

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