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2 January, 2019 - 20:26 By Kate Sweeney

Congenica primed for challenge of helping to sequence five million genomes in five years

Cambridge based digital healthcare specialist Congenica is in pole position to help the UK achieve an ambitious project to sequence five million genomes in the next five years.

The company’s Sapienta technology has been at the heart of the sequencing of the first 100,000 genomes in the UK. 

Health Secretary Matt Hancock has now given the nod to pitch for the million mark – and then target five million genomes in a bid to revolutionise patient care through personalised medicines.

Congenica CEO Dr David Atkins told Business Weekly: “Sequencing 100,000 whole genomes is a huge achievement for the UK. We’re very proud to have played a role in helping rare disease patients see an end to their diagnostic odyssey, working alongside Genomics England and the NHS.

“As the NHS now launches the world’s first Genomic Medicine Service, we will continue to deliver this crucial data interpretation support, helping realise improved patient diagnoses and a more efficient healthcare system.”

Where it is deemed relevant, patients will be asked to give consent for their genome data to be securely analysed by approved researchers, who will develop new tests and treatments for cancer and rare diseases.

From 2019, all seriously ill children will be offered whole genome sequencing as part of their care. Adults with certain rare diseases or hard-to-treat cancers will also be offered the same option from next year.

The NHS Genomic Medicine Service will expand on existing projects such as the 100,000 Genomes Project and see one million whole genomes being sequenced by the NHS and medical research project UK Biobank.

This will help support the wider ambition to sequence five million genomes in the UK by bringing together expertise from world-leading industry experts such as UK Research and Innovation, the NHS and other partners. At present, it can take years to diagnose a rare disease, but genomics has the potential to speed this up and reduce the number of invasive tests that patients currently have to undergo.

The more genetic information there is, the earlier clinicians can predict, diagnose and treat the illness in a way that works best for each patient. Hancock said: “I’m incredibly excited about the potential for this type of technology to improve the diagnosis and treatment for patients to help people live longer, healthier lives – a vital part of our long-term plan for the NHS.

“Our commitments form part of our bold aspiration to sequence five million genomes in the UK, using ground-breaking technology to do this within an unprecedented five-year period.”

Congenica was a partner for the 100,000 genomes project by providing genome interpretation at scale (approx 7,000 genomes) and therefore providing potentially meaningful feedback for patients.

Its genome analytics and interpretation software platform Sapientia™ went through a comprehensive and competitive evaluation process and proved to be able to deliver the state-of-the-art annotation, interpretation and reporting services required for the project.

Congenica continues to work with Genomics England – awarded a multi-year contract to be a provider of decision support services to deliver the world leading NHS Genomic Medicine Service.

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