Collaboration speeds up DNA-to-Diagnosis for inherited diseases

The companies aim to accelerate clinicians' ability to use genomics to diagnose a patients’ disease; then make this process available on a global basis

Congenica and Edico Genome have partnered to offer their complementary platform technologies as an all-in-one, genome data analysis solution.

The solution accelerates clinical labs’ and hospitals’ progression from DNA sequencing to diagnosis for inherited diseases – this otherwise takes months or years.

The new offering combines Congenica’s Sapientia software platform, with Edico Genome’s DRAGENTM.

Sapientia allows hospitals and labs to analyse and interpret the genome and create comprehensive diagnostic reports to support clinical decision making; DRAGENTM is a field-programmable gate array (FPGA)-centric platform that implements genome pipeline algorithms to analyse a whole genome. It does so in only 20 minutes onsite, or less than 10 minutes in a single cloud instance.

Both platforms accelerate analysis times, lowering costs and providing accessibility via the cloud.

Thomas Weaver, Chief Executive Officer of Congenica, said: “Sapientia is already used extensively throughout the NHS in the UK as well as by clinical scientists providing reports for the 100,000 Genomes Project.”

Faster answers mean less time finding a diagnosis and more time making decisions about treatment and care.

“Without a diagnosis, it is difficult to select the most appropriate treatment plan for a patient or make a prognosis of what the likely outcomes may be.”

“By combining our complementary technologies, we aim to accelerate the clinician’s ability to use genomics to diagnose a patients’ disease and make this available on a global basis.”

Edico’s DRAGEN Bio-IT processor has been assessed as part of University College London’s (UCL) Rapid Paediatric Sequencing Project (RaPs), a pilot aimed at evaluating the use of rapid whole genome sequencing (WGS) for rare diseases in an intensive care clinical setting.

Phil Beales, Professor of Medical and Molecular Genetics at UCL, said:

“Initially, we will apply the technology to a number of clinical cases where rapid turnaround is especially critical and ultimately envisage the solution will be widely used as we scale our efforts.”

“For children with rare diseases and their parents, answers cannot come quickly enough. Faster answers mean less time finding a diagnosis and more time making decisions about treatment and care.”

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