UK firms' software helps in genome diagnosis

BGI Genomics, China's leading DNA sequencing provider, is partnering with United Kingdom genomics software company Congenica to bring cutting-edge genome-based medicine to China's healthcare system.

BGI has invested an undisclosed sum in Congenica, and signed commercial contracts to use the Cambridge-based company's software, called Sapientia, to support BGI operations in China. Sapientia analyzes a patient's entire genome, pinpointing mutations and generating rapid and accurate diagnosis of inherited diseases.

Li Ning, chief development officer at BGI, said the arrangement "offers multiple advantages" to BGI's healthcare partners in China.

Sapientia is used by Genomics England in the UK 100,000 Genomes Project, a Department of Health-backed plan to sequence genomes from National Health Service patients with rare diseases.

Professor Mark Caulfield, chief scientist at Genome England, told China Daily: "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."

Congenica CEO Tom Weaver said genome-based medicine will revolutionize healthcare, with some rare inherited diseases that previously would have taken years to diagnose now being diagnosed in days.

"Our software combines genetic information with clinical data and our algorithms and interpretation tools allow us to identify the likely mutations that are involved in that disease," Weaver said.

Currently, when a doctor suspects a patient has a certain inherited ailment, tests will be ordered on a small numbers of genes and an accurate diagnosis may be made in around 5 percent of cases.

"Now, imagine going in and looking at all 22,000 genes in a patient – you have a much higher chance of identifying the mutation and making a diagnosis," he said. "With this technology, we see an increase in an ability to diagnose a patient of at least 10 fold. We're seeing cases of up to 50-60 percent of diagnoses in certain conditions."

Congenica's entry into China offers its researchers access to a huge population in a country investing heavily in genomics. Along with a prolific level of DNA sequencing, China is moving forward with a precision-based medicine initiative, and researching how drugs affect different people in different ways by analyzing clinical data, health records and genetic information.

Last week, Yunfeng Capital, a fund backed by Jack Ma of Alibaba Group, invested $75 million in WuXi NextCODE, a contract genomics company headquartered in Shanghai.