SCID UK Newborn Screening Programme

PID UK and the PID patient community overwhelmingly supports the implementation of a UK national screening programme for Severe Combined Immune Deficiency (SCID) in the knowledge that it will help save the lives of children born with SCID. SCID is a paediatric emergency and can be fatal for children who are not diagnosed early enough.

The campaign is championed by Professor Bobby Gaspar, Professor of Paediatrics and Immunology at Great Ormond Street Hospital (GOSH), London, UKPIN and the International Patient Organisation for Primary Immunodeficiencies (IPOPI).

On the 20th June 2017, PID UK co-hosted a Parliamentary Reception aimed at gathering political support for the inclusion of SCID in the UK national newborn screening programme. A call for action was launched at the meeting and this has been used to gather support through the PID UK membership and wider community. Two families who lost their babies with only a few months of life shared their stories and how important early diagnosis is. Jonah, a 16 years old who underwent bone marrow transplantation as a baby, voiced the ideal outcome of early diagnosed and appropriate care.

About Severe Combined Immune Deficiency

SCID is a rare condition of the immune system that is genetically inherited and leads to severe abnormalities of the immune system development and function. Infants with SCID appear normal at birth but they typically experience problems with serious and potentially life threatening infections in the first few months of life. Extreme susceptibility to infections means that SCID remains fatal within the first year of life without correction of the underlying immune deficiency.  Bone marrow transplantation and gene therapy offer curative treatment options for this condition and evidence shows these have a 95% success rate.

Why this is important

Infants without a positive family history are typically only diagnosed after developing serious infections. Early diagnosis of SCID has been shown to significantly improve survival outcomes (over 95%). This is principally because early prevention measures protect infants from developing opportunistic infections. Thus, early identification of SCID through newborn screening would allow prompt intervention before infections occur. This knowledge has led to the development of newborn screening initiatives using T- cell excision circles (TREC) assays from Guthrie card dried blood spots, collected at birth.

UK is lagging behind other countries

At present, screening for SCID is not currently available in the UK.

Many EU member states have national or regional pilot studies on SCID newborn screening ongoing, including Norway, France, Italy, Sweden and Spain.
 In the Netherlands, the Ministry of Health issued a report in June 2015 qualifying SCID for inclusion in the newborn screening panel of diseases. A pilot project and an economic study are being developed before its final inclusion in the panel. In Israel, SCID newborn screening was implemented at the national level following a call to action from the scientific community. In 2010, (NBS) for SCID was included in the United States core screening panel and is now in place across 48 states in America. Read more on the IPOPI website here.

Newborn screening in the UK

In 2012 proposals were put forward to UK National Screening Committee (UK NSC) to put in place a national SCID screening programme. In January 2013, PID UK responded to the public consultation exercise launched by UK NSC in support of the case for implementing the programme. However the UK NSC has strict criteria for screening programmes and will only approve screening if the benefits outweigh the harms. In its review key areas were highlighted where further evidence/knowledge was required; including accuracy of the TREC test and the risk of identifying non SCID patients, treatment options available for SCID and epidemiology of SCID in the UK. Since then there have been further reports, evidence reviews and two financial assessment reports, the latest of which confirmed that SCID screening would be cost effective. However the PID community is still waiting for full implementation of SCID newborn screening.

Last updated November 2018


Related items

The UK NSC policy on Severe Combined Immunodeficiency 

PID UK Newsletter article  ''Half-way house’ for the implementation of a UK national screening programme for X-SCID'