Illumina locking down NIPT tech while launching ctDNA company

Illumina’s been busy in the cell-free DNA world, on the eve of JP Morgan Jay Flatley announced a new company, Grail, to screen cell free DNA for cancer. And at the end of last week Illumina ramped up litigation against companies using cfDNA for NIPT testing.

NIPT patent battles: GenomeWeb reported Illumina’s latest patent infringement lawsuits against European NIPT providers. The lawsuits claim infringement by use of the Ariosa Harmony or Premaitha Health's Iona NIPT tests. Both are based around the use of cfDNA. Ariosa’s test is array based (see previous blog) and Premathia’s test runs on the Ion Torrent Proton, both use very different methods to turn cfDNA into something testable (Ariosa: DANSR assay, Premathia: proprietary). However they are being sued for their use of cfDNA in violation of Illumina's European Patent 2183693 (this comes from the Illumina Sequenom patent pool...see GenomeWebs coverage from 2014). This gets to the heart of NIPT testing if Illumina’s patents are upheld, or if Ariosa/Premathia/et al can’t afford to fight, then Illumina controls what is going to be a very large market. Premathia's website has a statement from their CEO Dr Stephen Little "Premaitha...is confident that the IONA test does not infringe [Illumina's] patents" and that "These lawsuits are a continuation of attempts by Illumina to restrict competition in the European NIPT market".

The latest "ctDNA.com": At the same time Illumina is now launching Grail: developing a ctDNA-based liquid biopsy cancer screening test. This is very different from the likes of Guardant, Inivata, Foundation Medicine (recently delving into the liquid biopsy), are all aiming at the diagnosed patient. In their coverage the Wall Street Journal said Illumina are “marking the latest bet that…liquid biopsies will become a major tool for [the] treatment of cancer.” I for one cannot imagine a world where the liquid biopsy is not the major tool – it may be a decade or more away but the promise seems real enough to me. GenomeWeb had lots of details...Forbes also covered the launch of Grail and pointed out that GRAIL is not going to go head-to-head with other liquid biopsy companies as they are not screening. MIT Tech Review does point out that Illumina did not invent these tests...unfortunately they did not point to the work that came out of the Rosenfeld lab at CRUK (and that I was an author on)!

Early detection of cancer is hugely important, very simply early detection increases cure/survival rates. On Monday, January 18th is the Cambridge Cancer Centre Early Detection Programme Launch at the Cancer Research UK Cambridge Institute. Detecting cancer as early as possible is high on the priority list of cancer research, so Grail’s aim to screen and detect disease as early as possible with the highest chance to cure it is bang on target. The test will be under the current $1000 genome cost and may be coming to a doctor’s surgery near you in 2019. There is a huge amount of work ahead for Illumina/Grail but Jay Flatley thinks big and is often ahead of the game - with a $100 million war chest Grail is off to a good start.

However Grail will be targeting people without symptoms, how these patients will be selected is unclear. Will health care providers accept the results, will patients require a prescription, will the test come with genetic counselling, etc, etc, etc. Any screening test ideally needs low false-positive and false-negative rates. Patients who are incorrectly diagnosed as having cancer will go through other, possibly invasive, tests at significant expense and experience high levels of stress. Patients who’s disease is missed are likely to include many who might not have symptoms appear for some time. The MIT Tech Review articles discusses some of the problems involved in this kind of screening, they also point their readers to an earlier piece on Pathway Genomics, who received a warning letter from the FDA questioning their marketing claims for a smaller-scale test.

To develop this test Grail aims to sequence between 100,000 to 300,000 human genomes at an estimated cost of up to $250 million, with the majority of this costs going into flowcells and SBS kits – Illumina cannot lose! My cynical hat went on upon reading that Grail has a “preferential economic relationship with Illumina” (Jay Flatley quoted by WSJ). Illumina is likely to be competing against a larger and larger number of its customers with in-roads into NIPT and liquid-biopsy; what might be next?