New genetic screening programme should be extended to test for untreatable conditions, says leading biotech

SynaptixBio, the only company licensed to commercialise a treatment for a rare but deadly disease, says late or missed diagnosis can lead to years of unnecessary suffering

Oxford-based SynaptixBio, which is developing a therapy for a rare, deadly, and currently incurable disease, says the new genetic screening programme led by Genomics England and the NHS should be extended to test for conditions that are currently untreatable.

The new programme has been welcomed by Dan Williams, CEO at SynaptixBio, but he notes: “This will undoubtedly mean less suffering for many, which is fantastic, but it is currently limited to finding diseases for which there is already an approved treatment on the NHS.

“Even if there’s no treatment currently available it would still help enormously if babies could be diagnosed shortly after birth. They could then be directed to appropriate support.

“The hard work has been done in setting up the screening programme, so now we hope it will be extended to use the full breadth of its capabilities.

“Rare diseases are often devastating for the families of those affected, not least because the long diagnostic journey arising from a late or missed diagnosis can cause those families to miss out on access to vital care and support services.”

The new programme is known as the Generation Study, and is led by Genomics England, part of the Department of Health and Social Care, in partnership with NHS England. It means newborn babies will be offered whole genome sequencing using blood samples taken shortly after birth.

The study, which looks for over 200 rare genetic conditions, aims to test up to 100,000 newborns in England. Critically, newborns that don’t exhibit any symptoms will be able to get immediate treatment, so complications arising from delayed diagnosis will be avoided.

So far, thirteen NHS hospitals across the country have taken blood samples, with plans to scale up to around forty.

Dan Williams added, “Early identification of treatable conditions can help keep children out of hospital, and lead better lives, so this is a great step forward.

“Our work is focused on finding a therapy for a currently incurable rare, and deadly, disease. Until therapies are available on national health services, the earliest possible identification of genetic conditions should be the priority.”

SynaptixBio was recently awarded a £2 million BioMedical Catalyst grant from Innovate UK to support first-in-human clinical trials of its therapeutic targeting H-ABC, a rare, neurodegenerative disease that affects mainly babies and young children.

This followed an earlier grant, in November 2023, from Innovate UK to expand SynaptixBio’s search for rare disease therapies.

A key part of the new programme is that NHS genomic scientists will aim to inform parents of the results of tests within 28 days of a suspected condition.

Until now, blood spot screening has been used to test newborns for nine rare health conditions; the Generation Study does not replace this routine screening, so all newborns will still be offered it.

SynaptixBio is using a form of gene silencing technology, called antisense oligonucleotides, to stop a genetic mutation from going on to create toxic proteins.

The technology has been proven in the treatment of certain dystrophies, including Duchenne muscular dystrophy, and is currently under trial by University College London Hospitals as a potential therapy for Alzheimer’s disease.

In the UK, a rare disease is defined as a condition that affects fewer than 1 in 2,000 in the population. According to the European Commission, "1 in 17 people will be affected by a rare disease at some point in their lives. This amounts to 3.5 million people in the UK and 30 million people across Europe.”