NEW YORK (GenomeWeb) – Genomic Health announced Tuesday that it has launched a new assay called Oncotype SEQ Liquid Select, the first in what it intends to be a suite of liquid biopsy tests for diagnosis and monitoring of cancer.
The next-gen sequencing-based assay — the company's first using this technology — includes analysis of 17 genes that Genomic Health has picked based on their clinical actionability and relevance to therapeutic decision-making for several different cancer types, including lung, breast, colon, melanoma, ovarian, and gastrointestinal stromal tumors.
However, the initial launch of the test is only for late-stage lung cancer patients and only with a limited group of early customers, Phil Febbo, Genomic Health's chief medical officer, told GenomeWeb this week.
He did not share specifics about the early physicians and centers that are receiving this first access to the test, but said that the company believes starting with a limited launch will allow it to provide initial "white-glove service," and guide early users to make sure that they are using the test in the right patients and interpreting results appropriately.
"It is something we are keenly aware of in today's era of precision medicine: the complexity of the information that is coming, it can be overwhelming," he said.
Genomic Health has released little detail about the sequencing and analysis methodology behind the test, but Febbo said that the test is run on an Illumina platform, and that there are proprietary elements both in sample processing and in post-sequencing bioinformatics.
Some description of that "special sauce," Febbo said, will be part of a presentation of the analytical validation of the test that Genomic Health hopes to make this fall.
In the meantime, he said that one benefit of the initial limited launch is that the company can discuss its validation data with early users as part of establishing the most appropriate use and interpretation of the test.
Though it has not made public the experiments and results backing up the test's validation, Genomic Health reports on its website that the test maintains a 95 percent detection rate down to a 0.56 percent mutant allele fraction for SNVs, down to 0.19 percent MAF for indels, 0.37 percent for gene fusions, and down to 2.7 copy number gains — all at more than 99 percent specificity per sample.
According to Febbo, being able to report sensitivity and specificity measures not just generally, but for each individual type of variant that its NGS strategy targets, is something the company hopes may help distinguish it as it moves forward in the market.
Another differentiator is the panel itself. In designing Oncotype SEQ LS, Febbo said that Genomic Health made a very conscious effort to narrow the field of potential inclusions to only those genes in which detected variants would have therapeutic impact based on their inclusion in an FDA drug label, in NCCN guidelines as either an established or emerging marker, or as a referral mechanism to a Phase II-Phase IV clinical trial.
For example, the panel includes ALK, BRAF, EGFR, and KRAS, markers that, depending on cancer type, are associated with specific FDA-approved therapies. It also includes genes like MET, which are not associated yet with an FDA-approved drug, but which play a role in the prescribing recommendations of professional guidelines societies like NCCN, as well as emerging markers likely to be included in future guidelines like AR, ESR1, PIK3CA, and PTEN.
With its new offering, Genomic Health joins a field in which several other companies have already staked their claim on a spectrum from very narrow single-gene assays to comprehensive sequencing tests much broader than Oncotype SEQ.
This month, the US Food and Drug Administration made its first ever approval of a liquid biopsy test, Roche's blood-based cobas EGFR Mutation Test v2, which targets hotspots in the EGFR gene, for use as a companion diagnostic for Genentech's cancer drug Tarceva (erlotinib) in non-small cell lung cancer patients.
Representing the bookend at the other end of the spectrum, Guardant Health has rapidly built up its comprehensive NGS liquid biopsy test business over the last two years with Guardant360, an assay that interrogates about 70 genes. Guardant has reported at scientific meetings on tens of thousands of clinically accessioned samples, and just this month announced that it is now planning to branch out with the development of a new test aimed at early cancer detection.
While Genomic Health is not the first to market, Febbo said that the company's history and established relationships in the oncology community put it in a strong position to gain ground and become competitive against players like Guardant.
"If we were a startup with this test, without an established commercial channel, brand, and relationships with 1000s of physicians, I think, yes, it would be hard to go against [existing tests,]" he said.
But because of its experience and standing in the oncology market, Febbo said that Genomic Health has a leg up in terms of things like achieving reimbursement.
"That's where I think we will really become a part of the conversation and become a competitor," he explained.
Though the company is cognizant of the possibility that the FDA may finalize its plans to extend its oversight to include laboratory developed tests, Febbo said Genomic Health is currently still centering its strategy around the validation and other data necessary for operating under CLIA.
However, he said, the company is confident "knowing what [the FDA requires of] IVDs, that we can do very well with all our tests — including Oncotype SEQ — in an FDA-regulated environment."
Febbo did not define a precise timeline for a wider launch of the test in lung cancer or for expansion to the other tumor types that the current 17-gene panel also targets, but he said that Genomic Health will be moving in that direction over the next year.
Then, in 2017, it will potentially introduce additional liquid biopsy assays as part of a planned expansion to offer tests that not only guide therapeutic decision-making, but can also serve other purposes like monitoring disease progression or drug effectiveness.