British startup forges ahead with quick genome sequencing tech for rare childhood diseases

Matthew Hurles, Congenica co-founder

Amid growing interest from diagnostics companies in quick, next-generation sequencing systems that could reduce healthcare costs, British startup Congenica is developing an innovative sequencing technology to facilitate the diagnosis of rare childhood diseases.

Unlike traditional genomic screening systems, Congenica's Sapientia tool scans a whole genome sequence to identify rare genetic diseases, instead of examining each gene for potential mutations. The technology could help improve the current standard of care, which often requires lengthy and expensive genetic testing and few definitive results, Congenica said in a statement.

"Sapientia combines clinical information about the patient, information about their gene mutations, and background information about the disease phenotypes of other patients with those mutations," Matthew Hurles, co-founder of Congenica, said in a statement. "We have worked very closely with clinical geneticists to ensure that Sapientia can present this information in a way that is easy for clinicians to interpret."

Congenica's Sapientia technology is based on the work of Dr. Richard Durbin, head of the Genome Informatics Group and acting head of Computational Genomics at the Wellcome Trust Sanger Institute. The sequencing methods behind Sapientia are being fleshed out in a new study, "Deciphering Developmental Disorders," which shows that genome sequencing could provide children and their families with a diagnosis in only a few minutes, Congenica said in a statement.

The company plans to work with clinicians and the U.K.'s National Health Service (NHS) Genomics Medicine Centres to further develop the technology and make the testing system available to more patients. Congenica, which is located on the Wellcome Trust Genome Campus, recently snagged a £1 million ($1.5 million) investment from Cambridge Innovation Capital to beef up R&D for its diagnostic technology.

"We see Congenica's platform as a powerful enabler that can realize the potential for a radically different type of genome analysis service," said Robert Tansley, investment director at Cambridge Innovation Capital. "Our funding will allow Congenica to scale its technology, which has been independently validated by Genomics England, to offer a definitive diagnostic service."

- read Congenica's statement
- get more from GenomeWeb (reg. req.)

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