West Midlands laboratory is first to begin newborn screening for spinal muscular atrophy (SMA)
Our Trust has today (Thursday 1 October) become the first in England to start screening newborn babies for spinal muscular atrophy (SMA), a rare but serious genetic condition.
The introduction of testing at our West Midlands Screening Laboratory will help identify affected babies before symptoms develop, giving them the best chance of successful treatment.
From today, newborn babies across the West Midlands, Shropshire, Staffordshire, Herefordshire, Warwickshire and Worcestershire will be tested for SMA.
A nationwide roll out means all babies born across England will be included by October next year.
The serious inherited neuromuscular condition affects the nerves controlling muscle movement. It can significantly impact a baby's ability to move, speak, swallow, and breathe. Early diagnosis is critical, as timely treatment can greatly improve health outcomes and quality of life.
Dr Philippa Goddard, Consultant Biochemist & Director of Newborn Screening at our Trust, said: “ I am immensely proud of the commitment and hard work shown by the entire team in preparing for the introduction of SMA screening. Their efforts have ensured we are ready to deliver this important service .
“As the first laboratory in England to begin newborn screening for SMA, we will help identify babies with the condition before symptoms appear. Earlier diagnosis can enable faster access to specialist treatment, which can make a life-changing difference and significantly improve outcomes for children and their families.”
Giles Lomax, CEO of SMA UK charity, said : “Today marks a hugely important moment for the SMA community . After years of campaigning by the SMA community, it is incredibly powerful to see this work becoming a reality and I would like to say thank you to everyone for making this come to fruition including the laboratory staff that have work tirelessly.
“Tho usands of babies each year will have the opportunity to be diagnosed earlier and access life-changing treatment before irreversible damage occurs. This is a significant step forward for families affected by SMA, and a moment the whole community can be proud of.”
Former Little Mix singer Jesy Nelson campaigned alongside the charity SMA UK for the change after both her twins were diagnosed with the condition .
The programme will be delivered through existing NHS services under existing National Institute for Health and Care Research (NIHR) research governance processes, with the research element funded by the NIHR.
BWC deliver newborn blood spot screening across the West Midlands and is recognised as one of the UK’s leading laboratories for newborn screening.
The existing newborn blood spot screening panel currently includes seven inherited metabolic disorders, Phenylketonuria (PKU), Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), Maple Syrup Urine Disease (MSUD), Isovaleric Acidaemia (IVA), Glutaric Aciduria Type 1 (GA1), Homocystinuria (HCU), and Hereditary Tyrosinaemia Type 1 (HT1), as well as Sickle Cell Disease (SCD), Cystic Fibrosis (CF), Congenital Hypothyroidism (CHT), and Severe Combined Immunodeficiency (SCID).
This vital screening programme enables the early identification of serious but treatable conditions that may not be apparent at birth. Early detection allows prompt intervention, helping to prevent significant health complications and improve long-term outcomes for affected children.