Have you ever wondered why we don’t screen for more newborn conditions or why it takes so long to add new conditions? I certainly used to. Until last summer, when I joined the Newborn Blood Spot (NBS) Advisory Group and the Board for the severe combined immune deficiency (SCID) in-service evaluation, I did too. Now I represent RCM members’ interests and provide expert midwifery input.
Many of you will remember in 2021 the BCG vaccination programme moved from after birth to 28 days. This was to enable the launch of the SCID pilot screening programme which was recommended by the UK National Screening Committee (NSC) but had been delayed by the COVID-19 pandemic. Evidence showed that, with chemotherapy and stem cell transplant treatments, an increasing number of babies were surviving SCID. However, there were evidence gaps that needed addressing and the pilot, and a comprehensive in-service evaluation (ISE) by NHS England would seek to do this. You can read more about SCID and Charlie’s incredible story here.
BCG vaccination is contraindicated in babies with SCID so introducing the pilot meant that this vaccination programme had to change first – no small task! A pilot scheme is vital for ensuring that screening is possible and beneficial within existing NHS care pathways. For SCID, screening labs needed new testing equipment, staff needed training, and care pathways needed to be responsive to ensure timely referrals and interventions. The ISE includes a review of this, the pilot data, the economic cost/benefit, patient and staff experiences, and whether unforeseen impacts occur such as those that might arise from a change in vaccination delivery or high numbers of false positives.
Over one million babies have now been screened through the SCID pilot. The ISE involved a multiprofessional team of health experts, statisticians, lab specialists and families with lived experience, along with years of data collection and analysis to ensure recommendations are based on strong evidence. The next steps include presentation of the evidence on the effectiveness of NBS screening for SCID to the responsible committees, then a public consultation, then finally the UK NSC will make its recommendations to ministers. More on this can be read here.
So much is developing in the world of newborn screening. Last year the Government endorsed the NSC’s recommendation to add a seventh inherited metabolic disorder –tyrosinaemia type 1 (HT1) – to the NBBS programme in England and this is due to be added this summer. Just last weekend, there was the announcement of full DNA mapping of newborns.
An ISE for spinal muscular atrophy (SMA) has also been recommended – more information here. I also urge you to read about the Generation Study. It’s a long-term study looking at the genomes of newborns to see if genetic conditions can be found and treated early. Worryingly the NBS advisory board has been told that some parents think it is instead of NBS screening. So this is a call to members in the pilot areas to reinforce the message that NBS screening is still essential.
NBS screening can be life-changing and midwives, maternity support workers and maternity care assistants play a key role in preventing delays and ensuring families are well-informed. If this is part of your clinical practice, it is vital to maintain up to date knowledge on the conditions we screen for. Access our ilearn module to help you with this, and we have an excellent genomics module too.
