In Israel, SCID newborn screening was implemented at the national level following a call to action from the scientific community. A pilot project and an economic study are being developed before its final inclusion in the panel. In the Netherlands, the Ministry of Health issued a report in June 2015 qualifying SCID for inclusion in the newborn screening panel of diseases.

Many EU member states have national or regional pilot studies on SCID newborn screening ongoing, including Norway, France, Italy, Sweden and Spain. 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.Īt present, screening for SCID is not currently available in the UK. Thus, early identification of SCID through newborn screening would allow prompt intervention before infections occur. This is principally because early prevention measures protect infants from developing opportunistic infections. Early diagnosis of SCID has been shown to significantly improve survival outcomes (over 95%). Infants without a positive family history are typically only diagnosed after developing serious infections. Bone marrow transplantation and gene therapy offer curative treatment options for this condition and evidence shows these have a 95% success rate.

Extreme susceptibility to infections means that SCID remains fatal within the first year of life without correction of the underlying immune deficiency. 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. 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. Jonah, a 16 years old who underwent bone marrow transplantation as a baby, voiced the ideal outcome of early diagnosed and appropriate care. Two families who lost their babies with only a few months of life shared their stories and how important early diagnosis is. A call for action was launched at the meeting and this has been used to gather support through the Immunodeficiency UK membership and wider community. On the 20th June 2017, Immunodeficiency UK co-hosted a Parliamentary Reception aimed at gathering political support for the inclusion of SCID in the UK national newborn screening programme. 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). SCID is a paediatric emergency and can be fatal for children who are not diagnosed early enough. Immunodeficiency 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 newborn screening