New technology breakthrough speeds up diagnostic process

New software developed by a Cambridge-based company could help diagnose life-limiting conditions in children in minutes rather than years, scientists have said.

Rare genetic conditions in children can currently take up to five years to identify correctly, or cannot be diagnosed at all, according to researchers who hope to shrink the waiting times with new technology and analytical tools.  

The software, developed by Congenica, is bound to speed up the process by examining the entire genome sequence to find mutations rather than examining each gene in turn.

According to Phil Beales, honorary consultant in clinical genetics at Great Ormond Street Hospital (Gosh) and clinical director of Congenica, genome sequenced-based approaches are transforming the treatment and diagnosis of genetic conditions.

Currently trailed by the NHS, the Sapientia system is expected to be used for the first time across the UK early next year, before being introduced globally.     

Tom Weaver, chief executive of Congenica, said that currently only one in 20 patients gets a correct diagnosis, but this is now expected to surge to 50 per cent.

"We need to keep pushing the technology to bridge that other 50 per cent but I strongly believe that will come from acquiring more data not only in the NHS and the UK but globally," said Weaver.

The software was built on the backbone of Dr Richard Dublin’s work who developed techniques to identify, annotate and interpret genome DNA sequence data. The aggregated clinical information about the patient now includes gene mutation specifics and background facts about similar symptoms in other patients.  

The diagnosis breakthrough offers a glimmer of hope to families of children with rare conditions, playing a crucial part, said Lauren Roberts, co-ordinator of Syndromes Without A Name UK.

"Without a diagnosis families have no idea what the future holds, they have no idea if their child is likely to develop other significant health needs or what their life expectancy may be," she added.

Cambridge Innovation Capital (CIC) provided Congenica with up to £1m, in its attempt to add value to the city’s already established position as a research hub, and to develop new technology and business.

George Freeman, Life Science Minister, said about the initiative: “We want to lead the world in genomic medicine to develop more personalised treatments that can make a real difference to NHS patients, especially in rare disease and cancer."

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