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Illumina Sees Diagnostics as Largest Growth Opportunity; Dx Strategy to Focus on Cancer


Illumina sees the clinical market as its largest opportunity for growth and will focus its diagnostic strategy on cancer, a company representative said last week.

"What we expect to be the largest market, and the most important market for the company over the next decade, is the emerging clinical and translational market," said Christian Henry, Illumina's senior vice president and general manager of genomic solutions, during a presentation at the William Blair Growth Stock Conference, which was webcast. "The diagnostics opportunity is by far the most significant opportunity."

While genetic diagnostics is about a $6 billion market today that is "focused heavily" in the area of infectious disease, he said, it could grow to $23 billion by 2020, driven by infectious disease, cancer, and reproductive medicine, with contributions from pharmacogenomics.

Illumina's goal will be to develop a diagnostic strategy to take advantage of this market opportunity, Henry said. "The focus for us will be primarily in cancer, because we think it's the most complicated [area] and will use the most sequencing, so our core competencies are uniquely suited to going into that market."

Henry also made a projection for how Illumina could gain more than $600 million in additional annual revenues from clinical or diagnostic sequencing once the '$1,000 genome' is available, which he said will likely happen over the next few years.

About $350 million in new revenues could come from newborn screening by whole-genome sequencing, assuming that 1 percent of all newborns in the US and other industrialized countries — about 34.5 million in total — would undergo such a test.

Another $250 million in annual revenues could come from cancer diagnostics if 1 percent of all new cancer patients in the world — a total of about 12.7 million in 2008, according to the World Cancer Research Fund International — would have their tumor as well as a normal control sequenced. It is likely that each tumor would be sequenced multiple times during the course of therapy, he added. "Achieving 1 percent penetration in this market we expect will be very straightforward, and we think we'll be able to achieve much higher levels of penetration over the next decade," Henry said.

Finally, $25 million in annual revenues could derive from the clinical trial market if 1 percent of all patients entering clinical trials in the US each year would undergo whole-genome sequencing.

These projections are aimed to "impress upon you how significant these markets are going to become, and we are at the very earliest stages of taking advantage of this opportunity," Henry concluded.

He pointed out that the company's HiSeq 2000 sequencer is already being used by several companies, such as Sequenom, in prenatal diagnostics to test for Down syndrome and other chromosomal abnormalities. "This is a really significant opportunity for those companies and for Illumina," he said, adding "that market could be well over $1 billion and move very fast."

Illumina is already using the HiSeq 2500, which has not been commercially released yet, in its service laboratory to generate fast clinical results, for example to "help a clinician with a specific cancer case with a five-day sample-to-answer turnaround," he said. "The implications of this are very significant because it allows us to start pushing the system deeper and deeper into clinical applications, because if you are a patient, you don’t want to wait from 10 days to a month for the answers."

Besides rapid turnaround, having a simple workflow, accurate data, and being able to work with small amounts of input DNA will be important for clinical sequencing applications, Henry said, noting that Illumina's TruSeq PCR-free protocol allows users to perform whole-genome sequencing with as little as 500 nanograms of DNA.

"One of our competitive advantages is that we have the fastest workflow, and we have the simplest workflow in the industry," Henry claimed. "That allows researchers of various skill levels to get engaged with the technology, which becomes more and more important as we start to move into the clinical markets."