Older genetic-testing companies such as Myriad Genetics and Genomic Health have switched to using Illumina machines. Newer upstarts are looking to disrupt those markets. Invitae, formed by Genomic Health founder Randy Scott, will offer patients any (or all) of 3,000 genetic tests for a flat rate of $1,500. Counsyl, based in San Francisco, is using the technology to offer tests for hereditary cancer genes and tests for would-be parents.
The biggest opportunities are in cancer, which could become an $11 billion global market. Take the story of Heather Follweiler, 60. She started having headaches and then had difficulty moving her left side while on vacation in Vietnam and Cambodia. When she returned home she had a seizure. A 2 a.m. emergency CAT scan found a tumor in her brain that had spread there from somewhere else. Doctors removed it.
But then Follweiler, a retired financial services professional, found she had another tumor in her bowel. Her doctors opened her up, found it was too big to remove and sent her home. “I was basically throwing in the towel,” she said. But one of her physicians sent a tumor sample to Foundation Medicine, a startup backed by Bill Gates and Google Ventures that used Illumina’s sequencers to locate 236 mutations that could help direct drug treatment. As a result of the test she was given Pfizer’s Xalkori, which has made the bowel tumor undetectable and has kept it that way for more than a year. “I feel no different than I felt two and a half years ago,” she says.
Cancer is so big, in fact, that Flatley spent months convincing Richard Klausner, the former director of the National Cancer Institute, to be Illumina’s chief medical officer. At a dinner Klausner, thinking he was just giving advice, outlined a plan for Illumina’s future. At the end Flatley told him, “That’s exactly where we want to go, but I can’t lead us there. But you could.”
The next big opportunity, Klausner says, will be to identify DNA on tumor cells or in bits of blood so that cancer patients can be monitored with blood tests, not CAT scans. (One of Illumina’s customers, Sequenta, does this for some blood cancers.) In the future it might be possible to screen patients for cancer with blood tests that would catch the disease early. In the meantime, Klausner is looking to work with health insurers to prove that, unlike most medical technologies, the improved rates of diagnosis from DNA sequencing may actually cut health care costs, not increase them. Diagnostics often become commodities, but Klausner is confident that sequencing will not.
There are more competitors in the wings: Oxford, U.K.’s Oxford Nanopore, a former Illumina partner, has been talking about sequencers as small as a thumb drive; Roche bought Mountain View’s Genia Technologies, another startup, for up to $350 million. But Flatley is confident that Illumina’s footprint, which includes not just machines but also the software to handle genomic data, will make the company hard to unseat.
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