How Adding A.I. to Gene Sequencing Can Help Detect Cancer Early

November 7, 2019, 11:16 AM UTC

A “genomic revolution” in healthcare has been declared for years, but now, says Simone Song, founding partner at healthcare-focused venture capital fund ORI Capital, it’s really arrived.

Genomic sequencing—the ordering of DNA bases within a genome to decode genetic information—has become indispensable in research across biotechnology, forensic biology, and medical diagnosis. But analyzing the information it produces takes time.

Now, however, a handful of biotech startups are training A.I. to analyze huge amounts of genomic data at a much faster rate than humans would be able to carry out.

That step forward—to A.I.-powered genomic sequencing—is “almost a dream” for uses like early cancer detection, Song told the Fortune Global Tech Forum in Guangzhou, China on Thursday. “The revolution is definitely here.”

Song compares cancer cells to A.I. in their ability to learn and adapt to targeted treatments. Early detection of cancer is incredibly important, Song says, because once a tumor forms, millions of cells form “with all the A.I. cell features.”

American biotechnology company Illumina—whose machines and tools are used in 90% of the genomic sequencing done in the world—has contributed to one “leg of the revolution” in early cancer detection efforts, Song says, with its gene sequencing tools, which sift through millions of genetic variants to distinguish between benign and potentially disease-causing mutations.

Last year, Illumina has coupled A.I. to the mix, with its release for public use of genome sequencing A.I. software to better outwit highly adaptable cancer cells.

“We opened our [A.I.] platform for in vitro diagnostics [tests done on blood or tissue samples taken from the human body] for interested companies to do their research and development,” says Li Qing, the vice president and general manager for Illumina in Greater China, referring to the open-source sequencing software.

Li says Illumina is happy with the response, and says papers are being published every day on medical diagnoses made using Illumina’s software. The company’s sequencing tools are also used to diagnose rare diseases, 80% of which are caused by genetic reasons. In 2018 Illumina launched a partnership with the Chinese Medical Genetics Association to carry out genome sequencing for Chinese children with undiagnosed rare diseases.

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