Newborns set to receive a pioneering genetic test on the NHS

A pilot trial is being set up to test up to 100,000 newborns for 200 genetic diseases where early treatment can be life changing. The UK lags behind other European countries for the number of inherited diseases it routinely tests for at birth

Babies will start to receive a pioneering genetic test for 200 devastating diseases on the NHS. The pilot trial will test up to 100,000 newborns to start to redress a situation where many diseases are not treated early enough in Britain before irreversible damage has occurred.

The Generation Study will identify conditions such as Early Juvenile Metachromatic leukodystrophy (MLD) in otherwise asymptomatic babies where symptoms do not present until later in childhood.

It comes as the UK currently trails much of the world for the number of inherited diseases it routinely tests for at birth, leaving many children disabled despite treatments being available to prevent this.

Lucy White, whose nine-year-old son Joshua Curtis has MLD, said: “When Josh was born he was healthy but at the age of four we had concerns about his mobility, his hand-eye coordination and difficulties he had with swallowing.

“It took us two years and many tests and hospital appointments to get a diagnosis because his condition was so rare. With earlier diagnosis Josh could have benefitted from transformational gene therapy on the NHS, which would have been life-changing.

“Sadly it was too late for Josh to receive treatment as his symptoms had progressed too far and so we have had to watch our child deteriorate in front of our eyes. He has lost all of the abilities he once had. He is now unable to walk, talk and eat. He struggles to swallow, has no core strength and is unable to support himself. He is fed through a tube in his stomach and is on multiple medications to keep him comfortable.

“We’re facing the terrifying reality that this disease is terminal. We will continue to give Joshua the best life possible and make the most amazing memories with him while we can, and I hope that this study will help other families and children access the treatment they need sooner.”

The pilot scheme comes as the routine NHS heel prick test at five days old only checks for nine out of a potential 50 serious health conditions such as cystic fibrosis. This compares to 48 in Italy, 31 in Austria and 29 in Poland and Portugal.

NHS England said its Generation Study is not intended to replace routine screening and participating babies should still have the heel prick test. Amanda Pritchard, NHS chief executive, said: “Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testing could be truly life-changing for families. It has the potential to give thousands of children the chance to access the right treatment at the right time.

“If we can diagnose and treat children for rare genetic conditions years earlier, we have the power to help stop debilitating conditions in their tracks and enable more children to grow up, start school and live independently. This will be transformational for patients and for the future of medicine.”

Expectant parents will be informed about the study during pregnancy and if interested a blood sample will be taken from their baby shortly after birth and sent to a laboratory for whole genome sequencing.

Health Secretary Wes Streeting said: “To fix our broken NHS, we need to ensure the future of healthcare is more predictive, more preventative and more personalised. This kind of advance in genomics will help us achieve just that, ensuring families across the country have access to the right support and treatment for their loved ones. “Too many parents are waiting too long for crucial answers on diagnosis and I am determined that we use innovation to turn that around.”

Another condition being added to the Generation Study is a check for the muscle wasting disease Spinal Muscular Atrophy. The pilot is starting at 13 hospitals, with plans to scale it up to 40. However there are over 700 hospitals in England.

It comes after the Mirror revealed one baby a week is paralysed by SMA due to delays in adding a simple £5 check for SMA to the heel prick test for all babies. There is a routine check for SMA in 65% of EU countries, including Poland and Macedonia, and the Ukraine has added it despite being at war.

Ben Williams, a trustee of SMA UK, told the Mirror how his three-year-old son Ollie has been left needing tubes to eat and breath and cannot sit or stand because he was not tested at birth for the condition. Ben, of Ashford, Kent, said: “Although the UK is saying it is a leader in genomics, it only routinely screens for nine conditions. This is embarrassingly low.

“The Generation Study is a research project in which the UK is keen to be seen as a world leader. I am supportive but this should not be at the expense of newborn screening. Newborn screening will get a diagnosis much quicker as the Generation Study aims for 28 days which for SMA can be too long. Irreversible harm is almost certainly going to have occurred by then.

“Newborn screening is about getting diagnosis and treatment as soon as possible. The Generation Study is about conducting research - great for the future but less helpful right now - and is only a study into part of England. Access to the NHS is supposed to apply to everyone equally.”

SMA causes muscle weakness, loss of movement and difficulty breathing in the first weeks and months after birth. Without treatment, life expectancy for some children can be as little as two years. If treatment is only begun once symptoms have started, most of these infants will never be able to walk independently. Many will need mechanical ventilation, nutritional support and 24/7 care.

One-time gene therapies, such as Zolgesma, have become available on the NHS in recent years which can halt the death of nerves responsible for muscle function. But lack of a newborn check means it has only been used on a handful of babies before symptoms start.

What conditions are included in the NHS heel prick test is a decision for the National Screening Committee which has been deliberating whether to add SMA for years. Ben added: “I am supportive of the pilot but frustrated that this initiative is being allowed to power ahead whilst newborn screening is moving at an overly-leisurely pace.”