Congenica underpins global treatments for rare diseases

Congenica, which has a significant role in supporting the world’s first routine national genomic medicine service – due to go live in January or February next year – has praised the NHS for ending “the uncertainty of the diagnostic process” as genetic counselling goes mainstream.

The Wellcome Genome Campus-based firm has a multi-year contract from Genomics England to provide diagnostic decision support services via its Sapienta software platform. Sapienta is a crucial component of the world-leading NHS Genomic Medicine Service – the first genomic sequencing service to be routine in the context of free healthcare.

CEO David Atkins spoke to the Cambridge Independent about this, the early results from the 100,000 Genomes Project, and Congenica’s contracts with Chinese healthcare organisation, Digital China Health (DCH).

Of the transformative new technology now available in the UK, he said: “The 100,000 Genomes Project provides tremendous hope for rare disease patients. It will help families get out of the uncertainty of the diagnostic process – it’s powerful.

“The patient impact is extraordinary. The NHS does get criticism but this is an incredible pioneering development. When we go to conferences overseas it’s standing room only: Genomics England and the NHS are seen as an international success story.”

Early results from the 100,000 Genomes Project – Congenica has been providing a service to the project since 2014 – are encouraging.

“For rare disease patients we get a conclusive diagnosis in 40 to 50 per cent of the cases,” says Dr Atkins [currently, 96 per cent of rare diseases have no approved drug treatment]. “For some rare diseases that will be higher, some lower. It currently takes weeks using genomics testing, against four to five years using traditional testing methods. And over time with the diagnosis, we expect it’ll be days.”

Sapienta software identifies single changes in 3billion base pairs of DNA packaged in 23 chromosomes. A qualified interpretation is required by a human specialist when the data is produced. Congenica now has a deal with DCH, which came about “as China in the last 18 months prioritised rare disease patients”. The first customer is expected to be treated in January.

“China is advancing incredibly quickly on many fronts,” says Dr Atkins. “There’s a recognition in China that healthcare needs improving. Rare disease treatment in the West is still quite slow and they’re leap-frogging, they don’t have to develop it using an imperfect system.”

The Chinese “see it [Sapienta] as a way to solve a probelm, and they’re also trying to do something similar with cancer care”. Treatments in China are affordable because “the middle class in China has massively increased over the last few years”. Initial tests will take place in major cities including Shanghai and Hong Kong.

The 100,000 Genome Project completed its data collection last week. The start of the main phase, when the know-how and technology will move from research to clinical practice, will result in a new era for healthcare beginning in the new year.