England to add spinal muscular atrophy test for newborns

England will add spinal muscular atrophy to the newborn blood spot test, starting in October 2026 and moving ahead three months earlier than planned. The simple heel prick, taken shortly after birth, spots a rare genetic disease before symptoms appear, when treatment can do the most to change a baby’s outlook.

SMA can move fast. The condition can leave babies unable to sit up, crawl or walk, and in severe cases it can stop them breathing or swallowing. Hundreds of thousands of babies will be screened as the evaluation rolls out across England, with the remaining six screening laboratories due to begin testing from October 2027.

Jesy Nelson, who campaigned after her twin daughters, Ocean Jade and Story Monroe Nelson, were diagnosed with SMA, welcomed the announcement as a break from what she had called a postcode lottery. “Today is a day of hope,” she said, adding that the rollout would give future families access to early diagnosis and the best possible outcomes.

For parents in England, the SMA test will sit inside the existing newborn blood spot programme, which is recommended for all babies and is normally done when a baby is 5 days old. Parents are told about the test during pregnancy and again after birth, and if a result is positive they are contacted as soon as possible so treatment can be arranged. The screening pathway keeps diagnosis, referral and treatment clear and consistent across NHS services.

In May, NHS England said nusinersen and risdiplam would be routinely available on the NHS in England, with evidence showing the therapies have already helped 73 children with type 1 SMA survive to age 5 or older. Type 1 SMA is usually diagnosed before 6 months old and, if untreated, is usually fatal before age 2.

The UK National Screening Committee had not recommended SMA screening in 2018 because of evidence gaps, including how best to support families who received a positive result. Since then, it has tested the policy in live NHS settings, looking at feasibility, acceptability, effectiveness and cost-effectiveness before a final national recommendation.