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Vital genetic diagnoses achieved for sick babies in East of England following whole genome sequencing, study shows



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More than a third of severely sick babies referred for rapid whole genome sequencing (WGS) received a genetic diagnosis, an East of England study has shown.

And it found that one-fifth of patients would not have got a diagnosis without any genome analysis.

Studies have shown the value of whole genome sequencing for diagnosis
Studies have shown the value of whole genome sequencing for diagnosis

Whole genome sequencing can determine variations in any part of the genome and it is possible to uncover disease-causing changes with a single test. This has proven important as some of the findings can be in unexpected genes.

Professor Lucy Raymond, professor of medical genetics and neurodevelopment at the University of Cambridge and honorary consultant at Cambridge University Hospitals NHS Foundation Trust, said: “We found that overall one in three patients received a vital diagnosis and importantly more than one in five diagnoses would have been missed without the broad analysis carried out by WGS testing.

“Finding a diagnosis changes management, stops unnecessary tests, and reassures families that everything has been done that can be done for their child.”

Many genes that can cause a rare disease have not yet been identified, so a negative result – or an unconfirmed diagnosis – does not mean a condition is not genetic. It does however highlight the need to keep looking at the genome to find new genes that cause disease and to help clinicians and families in the future.

Building on the findings from the Next Generations Children’s Project (2019), over 500 seriously ill children – average age of 8.5 months – and their parents across the East of England were recruited from several paediatric service settings. The aim was to provide greater insight into the benefits of rapid WGS compared to other routine genetic tests.

David Rowitch
David Rowitch

Researchers worked hand in hand with scientists at East Genomic Laboratory Hub, based in Addenbrooke’s Hospital, to deliver the testing.

Professor David Rowitch, paediatrician (neonatology) and developmental neuroscientist at the University of Cambridge, said: “The study highlights that the burden of genetic disorders in paediatric inpatient and specialist clinic settings is much higher than previously suspected.

“The finding that children in neurology have a 46 per cent rate of diagnosis by WGS is likely to be quite surprising to many clinicians. It also shows that frequent re-analysis of patient WGS data improved the diagnostic rate as new genes were confirmed and published by other sources.”


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