Projects

Consultation on Newborn Screening for Thalassaemia

The NHS Sickle Cell and Thalassaemia Screening Programme (the Programme) is seeking the views of stakeholders and interested parties on the recent report - Newborn Screening for Thalassaemia.

Primary care engagement

The NHS Sickle Cell and Thalassaemia Screening Programme, working with the UK NSC,  commissioned a scoping study from Jill Rogers Associates. The aim of the scoping study was to  identifying some of the opportunities and barriers to engagement with primary care across the antenatal and newborn screening pathway for a range of screening programmes.  The report  is now under consideration.

Sickle cell and thalassaemia Specialist Nurses Project supported by Roald Dahl's Marvellous Children's Charity

The NHS Sickle Cell & Thalassaemia Screening Programme has been funded by Roald Dahl’s Marvellous Children’s Charity to carry out a study into the provision of nursing for people with sickle cell disease and thalassaemia in England. The Screening Programme has convened a working group to advise it on the development and delivery of the study between October 2011 and its scheduled completion in April 2012.

Development of core competences in genetics for sickle cell and thalassaemia counselling

To further support the development of expert counsellors, and in particular to recognise the importance of giving correct and comprehensive advice to patients and their families in relation to genetically inherited conditions, the SC&T Programme is supporting the development of a competency framework for sickle cell & thalassaemia counselling. 

Unidentified variants consultation

The NHS Sickle cell and thalassaemia screening programme has gone out for consultation on screening for unidentified variants. Full details can be found here.
The consultation period lasts from 21 March to 21 June 2011.

PEGASUS evaluation

PEGASUS is a training and education programme that supports health professionals involved in genetic screening.  The evaluation focuses on the “Train the Trainer” work based approach which forms an essential element of PEGASUS.

DNA for transfused babies

Babies who have had a blood transfusion prior to newborn screening for sickle cell disease won’t have a reliable screening result. We are piloting a project to test these samples using a DNA process.

Status Codes

We have set up a pilot project where a code is attached to every screening result.  This helps link the results of mothers, fathers and babies – ideally through screening and onto the records for child health and primary care.

FOQ implementation

The Family Origin Questionnaire (FOQ) is a tool to help healthcare professionals identify where patients’ ancestors came from.  The FOQ was rigorously tested and consulted on and is endorsed by NICE.

Failsafe project

We are working with the UK Newborn Screening Programme on a proof of concept exercise to assess the usefulness of a failsafe application focused on the first stage of the bloodspot screening programme.

Programme evaluation

Evaluation of linked antenatal and newborn NHS Sickle Cell and Thalassaemia Screening Programme

For information on these and other projects please contact us