Illumina is the dominant genetic sequencing company that you may never have heard of. I have blogged about some of the company's plans in the past (see: Illumina Launches Company to Develop a Pre-symptomatic Cancer Test; IT Support for Cancer Genomics; Moving to Practical Clinical Solutions). A recent article provides more background about the company and its high-profile CEO (see: Meet The New CEO Of The $22 Billion Genomics Company You've Never Heard Of). Below is an excerpt from it:
Illumina casts a long shadow over the field of genomics, but it lacks the star power of a consumer-focused company like Silicon Valley genetic testing outfit 23andMe. That's because Illumina operates behind the scenes, selling hardware and services to companies and research institutions. But that's about to change if Illumina's new CEO, serial entrepreneur Francis deSouza, has anything to do with it....To date, some 90% of all human genomes ever sequenced were sequenced on Illumina's supercomputers, which range in size from that of a small fax machine to that of an office photocopier. In 2014, one of these machines—the HiSeq X—was the first to sequence the entire human genome for just $1,000, making it exponentially cheaper for researchers to gather genetic information for their studies...."Illumine has come to dominate the sequencing field," says medical geneticist Robert Green, who currently advises the Illumina spin-off Helix (see: Inside Illumina's Plans to Lure Consumers with an App Store for Genomes)....As it pushes ahead with executive changes and new ventures, Illumina is suing a startup called Oxford Nanopore, alleging patent infringement....But deSouza's ambitions reach far beyond the research world. With the help of the company's former CEO, Jay Flatley, he is embarking on an aggressive five-year plan to bring genomics out of research labs and into doctors' offices. This year, to the chagrin of the incumbent competition, the company is placing a bet on noninvasive prenatal testing, which involves screening pregnancies for Down's Syndrome and other common fetal chromosomal anomalies. Illumina is also pursuing its own oncology and forensics tests.
The notion of genetic testing in physician offices has been kicking around for years. I assume that the idea revolves around some sort of point-of-care (POC) device. Office prenatal testing for Down's Syndrome and other common fetal chromosomal anomalies makes a lot of sense. My only reservation to such a plan is that such POC devices need to be foolproof because there is so much riding on the results. The general problem with POC testing in physician offices is that there is frequently staff turnover and some of them may not be highly trained in the use of POC devices. I personally favor central lab control of prenatal screening within health systems. The turnaround time may be slower but I have more confidence in the quality control of such tests.