Genome sequencing offers potential ‘revolution’ in diagnosis of rare childhood conditions

According to researchers at Cambridge University, genome sequencing is set to revolutionise the diagnosis of rare childhood illnesses.

From next year, all children in England who are seriously ill with an unexplained condition will be eligible for genome analysis, which comprises mapping a person’s entire genetic code.

This news follows research at Cambridge University and Addenbrooke’s Hospital, where it was found that 25 per cent of children in intensive care had a genetic disorder.

The researchers involved in the study were able to provide a diagnosis within three weeks, which sometimes spared further invasive tests to the children or led to a change in treatment.

Project leader Lucy Raymond, professor of medical genetics and neurodevelopment at the University of Cambridge, said “It is astonishing to be able to give a meaningful result from whole genome sequencing analysis in just a couple of weeks, compared to earlier in my career, when we spent years simply trying to locate a single gene.”

Professor Dame Sue Hill, NHS England’s chief scientific officer, said “Genomics has the potential to transform the delivery of care for patients which is why the NHS has prioritised it in its Long Term Plan.

“This Cambridge trial is important because not only does it show the potential benefits of whole genome sequencing to significantly improve care for seriously ill children, but it also demonstrates this technology can be delivered as part of a mainstream NHS service.”

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Posted by Karen Motley, Clinical Negligence Department, Chadwick Lawrence LLP (tonymay@chadlaw.co.uk ), medical negligence lawyers and clinical negligence solicitors in Huddersfield, Leeds, Wakefield and Halifax, West Yorkshire.

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