UK firm to bring cutting-edge gene-based medicine to China

Doctors in China could soon be using software that identifies hereditary diseases 10 times more accurately than conventional methods of diagnosis, following a deal between British and Chinese biotechnology companies.

The strategic partnership between precision medicine company Digital China Health and Cambridge-based Congenica will bring cutting-edge genome-based medicine to China's healthcare system.

As part of the deal, Congenica will develop a version of its software platform Sapientia for use by Chinese healthcare providers. Sapientia can pinpoint mutations and generate diagnoses of inherited diseases by analyzing the sum of a patient's genetic material, which is otherwise known as the genome.

"China is an important market for Congenica and this new relationship with Digital China Health gives us greater insight into what the local market requires to accelerate the broader use of genomic medicine," said David Atkins, chief executive of Congenica.

Digital China Health runs a data network that connects 30 specialized cancer hospitals and 174 municipal cancer hospitals across China. The company also helped create China's National Rare Disease Registry System.

David Shi, chief executive of Digital China Health, said the Sapientia platform will help clinicians deliver definitive diagnoses and improve the quality of care in China.

Around 7,000 diseases and disorders are considered rare, including Huntington disease, muscular dystrophy, and amyotrophic lateral sclerosis, which is also known as ALS or Lou Gehrig's disease.

According to Congenica, 80 percent of rare diseases are thought to have a genetic component. Conventional methods of diagnosis involve multiple tests on a small number of genes. This is often a laborious process and the average patient waits almost five years before getting an accurate diagnosis.

Sapientia is capable of delivering a diagnosis in days, by running large tracts of genetic information and clinical data through a software platform that pinpoints genetic mutations. The program also delivers diagnoses with a high rate of accuracy, according to Congenica.

Currently, when a doctor suspects a patient has a certain inherited ailment, conventional testing returns an accurate initial diagnosis in around 5 percent of cases. By swiftly analyzing thousands of genes, Sapientia is capable of returning an accurate initial diagnosis in around 50 percent of cases, according to Congenica co-founder Tom Weaver.

Congenica's software is used by Genomics England in the 100,000 Genomes Project, a Department of Health-backed plan to sequence genomes from National Health Service patients who have rare diseases.

Mark Caulfield, chief scientist at Genomics England, said gene-based medicine may soon revolutionize the treatment of hereditary illnesses.

"Genomics has the potential to transform healthcare, predicting how well a person will respond to a treatment or finding one that will work best for them," Caulfield said.

The new deal marks Congenica's second major partnership with a Chinese company. In 2017, major Chinese DNA sequencing provider BGI Genomics signed commercial contracts to use Sapientia and invested an undisclosed sum in Congenica.