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UPDATE ON THE ROLL-OUT OF NEWBORN SCREENING FOR SICKLE

CELL DISEASE IN ENGLAND: PAPER FOR RSCG MEETING JUNE 2003

1. Designation of SCG leads

SCGs have now all identified leads to the Newborn Screening programme
administration. The workshop for leads and others such as regional antenatal co-
ordinators is being held in London on 26th June. Representatives are attending from
all regions with the exception of the northern SCG. The draft programme has been
circulated to those attending or invited.

The focus of the workshop is for newborn screening, however, implementation and
rollout plans will need to link both newborn and antenatal services. NHS plan
commitment is for a “linked” programme.

2. Roll out of programmes:

2. 1 Newborn programme:

The plan for implementation of the programme is shown in the attached figure. The
current plan is for implementation to be complete by the end of the financial year
2004-5. The numbers in the table do not relate exactly to the laboratories providing
service and in several places have been grossed up, as it is not easily possible to
provide more detailed information at this stage. The number of babies this relates to is
listed below.

Planned implementation of newborn screening in England


aff births

120
births

100
% Affected babies detected

80
% Babies
screened
60
%

40

20

0
March 03 Sept 03 March 04 Sept 04 March 05
March 2003-March 2005 - six monthly
Table 1: Planned rollout of screening babies for sickle cell disease

Affected births
Northern and (estimates)
Yorkshire 68,117 35,000 35,000 68,117 3
Trent 55,248 55,000 55,000 55,248 4
Eastern 61,186 61,186 2
London 104,695 123,685 123,685 123,685 202,816 73
South East 98,121 4

South West 50,076 50,076 2


West Midlands 61,497 19,000 37,500 37,500 61,497 7
North West 73,886 200 73,886 73,886 73,886 5
Totals 572,826 142,885 325,071 325,071 572,826 99
Births screened 15% 25% 56% Est. 70% 100%

2.2 Antenatal Programme


Policy decisions will be made in autumn 2003 following reporting of the ethnic
question research, updating census information and review of technical developments.
In the meantime it is anticipated that we will notify high prevalence trust (see website
for details) to prepare business cases for implementation within this financial year/

2.3 DNA Laboratories


The laboratories offering molecular tests are the National Laboratory in Oxford and in
London, University College Hospital and Kings College Hospital. Investments in year
have focused on the requirements to meet CPA accreditation. Other developments
include development of referral protocols for laboratories, standard referral forms,
database and registers and minimum data sets.

The laboratories have been invited to join the UK Genetic Testing Network (UKGTN)
and have returned applications for membership. Currently the Department of Health
directly fund the service provided by the National laboratory in Oxford. The
Department have given notice that this funding will need to be subsumed within
normal funding mechanisms in 2006/07. Changes for funding will be handled through
the UKGTN process that is examining future commissioning options for the
commissioning of tests that are not undertaken by the local Genetic Centre.

3. Pathology modernisation and laboratory reconfiguration

Reconfiguration decisions about laboratories for newborn screening are being


addressed within the context of pathology modernisation plans. The Laboratory
advisor to the NSC Downs and Haemoglobinopathy screening programmes is visiting
two small labs in Yorkshire to review their services and assist with rationalisation. It
is proposed that he provide support to other areas requiring assistance in reviewing
services with the South East requiring the most support, as there are several small
laboratories in this region.

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David Worthington can be reached through the National Programme by contacting
Sandra Anglin on 0207 848 6621/6634.

4. Information Technology:
A London ICT project is being progressed to enable connectivity between the three
screening laboratories (200,000 births) and links with child health, community,
maternity and other related systems. It is planned to develop this project in co-
operation with the newborn hearing screening project in order to provide the starting
point for the integrated care record as part of the development of the patient record
‘spine’. The UK Newborn Screening Programme Centre is working jointly with the
London project to incorporate the production of a bar code in conjunction with the
issue of the NHS Number for Babies. This will enable bar codes to be used on the
Guthrie Card providing a single unique identifier and to automation of data entry in
the laboratories.

5. Quality Issues:
A range of developments are planed or in process including the development of a
Newborn Pilot scheme by NEQAS (see below), developments regarding fail-safe,
quality management on the programmes, agreement of minimum criteria, standards
for counselling for couples in the antenatal programme and an approach to linking
genetic centres with the haemoglobinopathy programme in areas without significant
haemoglobinopathy services or populations. A workshop to discuss minimum
standards for the provision of counselling services is being planned.
UK NEQAS for General Haematology – details from Barbara de la Salle

Neonatal Haemoglobinopathy Screening Pilot Scheme

Aims and Objectives of the pilot scheme

• To improve and monitor the standards in performance of laboratories undertaking Neonatal


Haemoglobinopathy Screening.
• To ensure that screening laboratories reliably detect the Haemoglobinopathy disease states
identified by the National Haemoglobinopathy Screening Programme.
• To support the national standards for screening laboratories identified by the National
Haemoglobinopathy Screening Programme
Measurement of Outcomes of the pilot scheme

• Numbers of Persistent Unsatisfactory Performers.


• Changes in performance scores.
• Improvement in techniques and practice.
• Trends in performance.
Financial support
The scheme has CPA support for the first year. No charge will be made to laboratories in the first year.

Recruitment of Participants
Participation will be open to any UK laboratory undertaking neonatal haemoglobinopathy screening and
able to test dried blood spots using the methods designated by the National Haemoglobinopathy
Screening Programme (at present HPLC and IEF). These laboratories will include Haematology
departments currently performing screening and designated centralised screening laboratories, as the

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National Plan for Neonatal Haemoglobinopathy Screening is implemented. The scheme should be open
to laboratories that are currently setting up techniques.

Frequency of distribution
Four surveys per year, with 3 specimens per survey is an acceptable schedule and will need to be
achieved to meet with the specification contained in the application to CPA. The timetable for 2003-
2004 should aim for an initial distribution in August, if possible, followed by 3 regularly spaced
distributions by March 2004. This timetable will mean that the frequency of surveys will be higher in the
first few months, which could be advantageous.

6. Communication and release of resources

Consultation of policy documents is now underway (see web-site for details


http://www.kcl-phs.org.uk/haemscreening/ ). This covers aims and objectives of the
programme, guidance of the screening methods procedures to be sued and standards
for newborn laboratories.

Dr JA Muir Gray and Dr Allison Streetly are in the process of writing to Regional
Directors of Public Health and Antenatal Co-ordinators about the implementation
process and the resources identified for each regional area. Funding will need to be
managed by the Specialist Commissioning process with a lead PCT and at a level that
is supported by local PCTs for pick-up following the provision of central support.

We have written to trusts responsible for implementing the programme this year
(Manchester, Liverpool, Leeds/Yorkshire and Sheffield/Trent) to request that business
cases be developed and agreed locally with the aim of releasing the relevant resources
in June or as soon as possible after this to ensure that implementation proceeds
according to plans. SHA CEs and DsPHs have been copied into these plans.

Allison Streetly and Jacquie Westwood

June 2003

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