Newborn Genomes Program Explores Rare Diseases in Newborns

The United Kingdom (UK) Government announced today the launch of a Newborn Genomes Programme. This research study will explore the effectiveness of using whole genome sequencing to detect rare diseases in newborn babies.

The UK stated on December 13, 2022, about one-third of children with a rare disease will die before their fifth birthday.

We have already begun a journey with parents, the public, and people with lived experiences of rare diseases.

All babies born through the UK's NHS are offered a blood spot screening test (or 'heel prick') that detects nine serious conditions; however, each year, thousands of babies are born with rare genetic disorders that aren't detected.

Whole genome sequencing of newborn babies, used alongside the blood spot test, could detect thousands more rare conditions and significantly impact the quality of life for children born with these conditions.

Previously, the 100,000 Genomes Project demonstrated the success of using whole genome sequencing to diagnose rare diseases.

Professor Sir Mark Caulfield (now Vice-Principal for Health for the Faculty of Medicine and Dentistry at the Queen Mary University of London, England) and his team designed the Newborn Genomes Programme, having been struck by the number of children in the 100,000 Genomes Project where early diagnosis could have transformed lives.

Sir Mark Caulfield recently spoke about the program and the role of genomic medicine.

Firstly, how does it feel to see the Government's announcement of the Newborn Genomics Programme?

"I am delighted to see the announcement of the Newborn Programme led by Genomics England and the NHS, which will test whether reading the whole genome sequence can identify treatable genetic disorders, where an intervention can be made in early life to avoid disability or harm."

Tell us about the early stages of the Newborn Genomes Programme – how did you and your team decide that there was a need for this?

"In 2018, Dame Sally Davies (the then Chief Medical Officer) asked me to lead a Genomic Analysis in Children Task and Finish Group."

"We recommended that every child admitted to intensive care without a clear cause should have genomic sequencing (this is now live across England in the NHS via Exeter) and proposed a newborn whole genome sequencing program.

"The ambition of the program as we proposed it is to compare the value of reading a whole genome with the current standard of care in the NHS (screening newborns for nine specific rare but serious conditions with a heel prick)."

How will whole genome sequencing of newborn babies improve healthcare for children with rare diseases in the NHS?

"The program's primary goal is to detect a range of disorders where we already have an intervention that could be given at the earliest possible point in life to reduce disability or potentially to avoid harm."

"It turns out that approximately 1 in 190 births (circa ten babies born every day in the UK) has one of these problems, and if the intervention is employed, this could be life-changing."

"Most of these interventions are dietary shifts or vitamin supplements, and only 8% are expensive treatments, for example, gene therapies or transplantation.

The children may not be cured, but the interventions may reduce disability or even allow an everyday life. So, getting these life-changing opportunities to children at the earliest point is so important."

What long-term impact could the Newborn Genome Programme have on diagnosing and managing rare diseases?  

"The secondary goal, based on the 100,000 Genomes Project, is to longitudinally life course these mums and babies to understand if, through research, we can offer other opportunities to prevent or manage problems that may be identified within the genome and might enable us to recall patients for preventive advice or treatment."

"This is currently being piloted at Barts Health NHS Trust and Queen Mary University of London, and Chelsea and Westminster Hospital NHS Foundation Trust."

Steve Thornton, Professor of Obstetrics at Queen Mary and Consultant at Barts Health NHS Trust, and Dr. Stamatina Iliodromiti, Research Lead for Women's Health at Barts Health NHS Trust and Senior Lecturer at Queen Mary, co-lead the pilot at Barts Health NHS Trust and the Queen Mary University of London.

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