Contrary to global developments and expert advice, today the NHS formally refused to back a newborn screening programme for spinal muscular atrophy.

In the recommendation published today, the NHS National Screening Committee announced that it “does not currently recommend introducing a national screening programme for carrier or newborn screening for spinal muscular atrophy”.

This is one of the most baffling documents we have read in ages. The NSC Committee came up with the following four claims as the justification of its absurd recommendation:

1. that “there was very limited evidence about how acceptable a screening programme would be.” Surely the Committee assumed that most parents do not want to know about their child’s genetic disease
2. that “there was no evidence on how to support individuals who need to make difficult decisions following carrier screening.” This despite the fact that doctors and SMA patient groups have for years been supporting families in taking decisions which were much more difficult than to start a treatment
3. that “there was a lack of information on the reliability of screening tests for SMA“, even as routine newborn screening for SMA is already a reality abroad while there are several academic publications on the matter that were made known to the Committee
4. that “no effective treatments for SMA were identified in an unsymptomatic population, currently only palliative support can be offered – however, the review identified evidence on a new treatment for SMA, called nusinersen, that can improve symptoms in children with SMA“. This borders malice, since the outcome of a presymptomatic clinical trial of nusinersen was was published long ago; while upcoming treatments are very likely to offer an even better efficacy at preventing the symptoms of the disease when administered presymptomatically

As of now, several developed countries have started or are considering routine newborn screening for SMA. In the United States alone, SMA was included in the recommended federal screening panel back in early 2018, and several US states already routinely screen for SMA. Across Europe, a number of pilot projects in newborn screening for SMA have either started or are about to start throughout 2019.

The UK recommendation means that each year, around 50 children who are diagnosed with SMA in the UK will be denied the chance of receiving an effective treatment until and unless they deteriorate. Evidence has shown that only presymptomatic administration of a SMN-acting drug is fully able to prevent the symptoms, so this decision is a looming tragedy for hundreds of UK families.

Several organisations and pharmaceutical companies dealing with SMA – including TreatSMA, SMA Support UK / SMA Trust, Genetic Alliance UK, Muscular Dystrophy UK, Biogen and Avexis – have submitted their statements in support of routine newborn screening as a part of the consultation. These statements can be read on the NSC website. Yet, the NSC considered themselves better informed than everyone else, and made its negative decision quoting… lack of information. We admit that we are left speechless.

It is worth noting that the analysis was carried out for the NHS by a business named Costello Medical which unfortunately appears to have little competence and understanding of the diagnostics and treatment scene in spinal muscular atrophy.

Just to reassure SMA Families, TreatSMA will keep advocating for routine newborn screening for SMA and will continue to offer support to diagnosed families, the way it has been doing to-date.