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Genoptix Offers Targeted Sequencing on Ion PGM to Guide Treatment Decisions for Metastatic Melanoma


By Molika Ashford

This story was originally published March 27.

Genoptix, the medical laboratory within Novartis' molecular diagnostics unit, announced this month that it is offering a targeted sequencing-based test for mutations in BRAF, NRAS, and c-KIT to help physicians tailor treatment for their metastatic melanoma patients.

The company sees the NexCourse Melanoma profile as a tool to help inform treatment decisions for patients with metastatic melanoma by screening for clinically relevant mutations in three genes associated with different prognoses and potential responses to targeted treatments.

Tina Nova, president of Genoptix, told Clinical Sequencing News in an e-mail that the NGS melanoma service is the company's first sequencing-based test offering. She said the company recognizes that "next-generation sequencing is rapidly becoming a new standard in diagnostic testing."

"We're committed to applying this cutting-edge technology as part of our ongoing effort to improve patient outcomes," she said, but declined to specify any disease indications Genoptix might next consider for a sequencing-based test.

For the NGS melanoma profile, Genoptix uses Ion Torrent's Personal Genome Machine and the Fluidigm Access Array for targeted amplification. "We believe this approach offers good breadth of coverage for detecting both known and novel variants with a sensitivity greater than standard sequencing technologies," Nova said.

The price of the test depends on which elements of the diagnostic profile a physician might select. "The complete profile is listed at $2,600, which is of comparable cost to other commercially available high-value diagnostic tests," Nova said.

She added that the company is "actively working" with payors to demonstrate the value of next-generation testing and to discuss favorable reimbursement rates and is "optimistic" that the value of NGS testing will eventually be recognized by insurers.

According to Nova, the company's sequencing approach of targeting BRAF, NRAS and c-KIT has a number of advantages over the use of single-gene tests for those mutations.

"First, the NGS testing requires significantly less sample," she wrote, "enabling us to conserve the precious amounts obtained." Further, sequencing allows the company to look at several genes in parallel, which takes less time than running several single-gene tests. "Most importantly," she said, "the NGS profile provides us with a much more comprehensive picture of the tumor than with assays that target specific point mutations."

Nova said that the melanoma NGS test will offer physicians "clinically relevant" mutation information. The company plans to report all variants found, but will differentiate mutations with clinical relevance from those of unknown significance.

"Our goal is to provide results on well known, clinically relevant markers, but an advantage of the NGS approach is its ability to identify both known and novel variants. As a result, our reports provide physicians with the mutations found by the test. However, if the variant is of unknown clinical significance we clearly state that," Nova wrote.

Genoptix is not currently using the test to place patients into clinical trials of Novartis drugs targeting NRAS, BRAF, and c-KIT mutations and does not plan to in the future. Nova would not elaborate further on how the "clinically relevant" findings from the NGS service might be used by physicians beyond the broad hope that it will offer them information to aid in therapeutic decision making.
The company also does not expect the test to be used to determine patients' likelihood to benefit from drugs that are currently on the market, such as Roche's Zelboraf, which is approved for patients harboring V600E mutations. Genoptix already offers Roche's PCR-based BRAF V600E test, which the US Food and Drug Administration approved as a Zelboraf companion test at the same time it approved the drug.

"Ultimately, it is the physician's decision to choose the appropriate test for his or her patient. However, we believe our NGS melanoma profile may be particularly useful when the Cobas BRAF V600E result is negative and the patient has limited treatment options," Nova wrote.

She said that in the future, as the company gains additional clinical information, it could "easily broaden the profile to include additional genes."

Have topics you'd like to see covered in Clinical Sequencing News? Contact the editor at mashford [at] genomeweb [.] com.

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