We continue to press for the introduction of UK-wide newborn screening (NBS) for severe combined immunodeficiency (SCID) and have represented the patient’s public voice on the NHS England committee overseeing the pilot SCID NBS programme since 2017.
Over the last six months, we have attended six meetings. The committee is now writing a report of the findings, for submission to the UK National Screening Committee (UKNSC). Their decision will then be open to consultation for three months before a recommendation is made to government ministers on whether SCID should become a routine part of the UK’s NBS Screening Programme.
Parliamentary drop-in on the Generation Study
Susan, our CEO, with Mrs Sharon Hogson, MP for Washington and Gateshead South.
The Generation Study is an important research initiative testing newborns for over 110 genes associated with primary immunodeficiency conditions.
The study will pave the way for the widespread use of genomic sequencing for early detection of many rare conditions so that life-saving therapeutic interventions can be made early in a child’s life.
On the 14th of January 2025, we were invited by Genetic Alliance UK and Genomics England to speak with MPs about the importance of the Generation Study. We joined two other charities, the Cystic Fibrosis Trust and Metabolic Support UK. The focus was on the implications of this research study for the UK newborn screening programme. We also discussed the challenges ahead, as the screening programme expands to include more conditions. This expansion will require increased investment and resources.
