Illumina Attempts Cancer's Holy Grail: A Pan-Cancer Liquid Biopsy Test

With investments from venture capitalists, Bill Gates, and Jeffrey Bezos, a spin-off of Illumina, which is in the business of DNA sequencing, has plans to develop a blood test that can detect any cancer at a very early—and potentially curable—stage, in the absence of symptoms.

Grail, which has raised over $100 million from Illumina and the venture capital firm Arch Venture Partners, has also secured investments from Microsoft’s co-founder, Bill Gates, and Jeffrey P. Bezos, the founder and chief executive of Amazon, reports The New York Times. The new company plans to detect cancer-associated mutations in DNA fragments to screen people even before symptoms of the disease arise. According to Illumina’s chief executive Jay T. Flatley, also the chairman of Grail, development of such a reliable test will need deep sequencing of between 100,000 to 300,000 human genomes.

Flatley told the Times that a liquid biopsy is advantageous in that it avoids false positives, unlike a mammography or a prostate-specific antigen test. “We are actually measuring mutations from cancer cell, a direct measure of the cancer itself,” he said. While several companies are already in the process of developing liquid biopsies for cancer, these tests are meant for individuals who have already been diagnosed with the disease, unlike what Grail has planned.

However, there are caveats to cancers detected very early. Sometimes a cancer may not progress to harm the patient, but unnecessary aggressive treatment following diagnosis could have a detrimental effect on the patient’s well-being. Late last year, the FDA issued a warning letter to a company selling a direct-to-consume cancer screening test in high-risk individuals. In its letter, the FDA warned that Pathway Genomics’ product, CancerIntercept Detect, has not undergone regulatory clearance as a “device” and could harm public health.

According to Flatley, their exhaustive deep-sequencing technique would ensure clinical validity of Grail’s test.

Flatley said that Grail plans to work with the FDA and with insurance companies to develop the test, and he estimated that the launch price would be less than a $1000. With trials beginning next year, the “pan-cancer screening test” could be in the market as early as 2019.