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MolecularHealth Presents Initial Data from 613-gene Panel; Evidence Grows for Tumor Profiling

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NEW YORK (GenomeWeb) – The Woodlands, Texas-based MolecularHealth, which began offering clinical tumor profiling services earlier this year, presented data at this year's San Antonio Breast Cancer Symposium demonstrating that genomic tumor profiling could help predict why some patients do not respond as expected to treatment.

The company's results add to a growing body of evidence, including from Foundation Medicine, which also presented results at the conference, that suggests such techniques have clinical utility for patients.

MolecularHealth first announced the opening of its US-based offices in The Woodlands, Texas, earlier this year, telling GenomeWeb it would offer both a targeted gene panel and a whole-exome test. The firm's laboratory received CLIA certification in March. 

MolecularHealth Chief Medical Officer Shelly Gunn told GenomeWeb that the firm's 613-gene panel has a list price of $5,000. In addition, she said the company is planning to launch a panel for hematological malignancies in 2015.

At last week's San Antonio Breast Cancer Symposium, MolecularHealth presented data from a retrospective analysis of a phase II clinical trial of adjuvant docetaxel and cyclophosphamide plus 1 year of trastuzumab (Herceptin) for patients with early stage, lower risk HER2 positive breast cancer.

The results of the trial were published in Lancet Oncology last year. The majority of the patients fared as expected — 97 percent had 2-year disease free survival — but a small subset of patients relapsed. For these 13 patients, MolecularHealth researchers wanted to see whether they could identify a genomic explanation using the firm's 613-gene targeted panel and doing a copy number analysis.

Gunn told GenomeWeb that "what really amazed us was that copy number alterations were so remarkably predictive within the group of patients that didn't respond."

Surprisingly, she said, high level HER2 amplification was found across the entire patient cohort, including both those that responded and those that relapsed. "It wasn't necessarily the number of copies of the HER2 gene that influenced survival, it was the existence of co-amplified genes that influenced the response to Herceptin," she said. The results point to the potential of "a prognostic marker for a disease that might be more aggressive than a disease that only has a single amplification."

Among the most frequently co-amplified genes were CCNE1, CCND1, and MYC, she said. However, she noted that more evidence will be needed before treatment decisions can be made based on the findings.

In addition, Gunn noted that there were several germline variants that seemed to impact response to Herceptin, "but a much larger study is needed to make that correlation."

Gunn told GenomeWeb that it sells the panel, which also includes copy number analysis, for $5,000 and said that reimbursement has "been remarkably successful."

In addition, she said that the company is discussing whether or not to seek US Food and Drug Administration clearance for the panel.

She declined to give specifics in terms of volume of tests that the company has been receiving but said that samples have been predominantly metastatic tumors from breast and lung cancer patients. "Those have the greatest number of [known] biomarkers," she said.

She said that the company has recently started to see a "bit of a shift" from predominantly metastatic samples to earlier stages of cancer.

The majority of patients have an "actionable result," she said, which the firm defines as a marker that would indicate a not only an approved drug for the indication, but also off-label use and available clinical trials.

The company works closely with the ordering physician to ensure that "the results are easily understood, that they are able to act on them and to make sure that patients have access to the trials," she said.

She declined to disclose the volume of tests the company was running but said that they are getting orders from community oncologists as well as academic centers. 

MolecularHealth is a newcomer to the field and will have to compete with the more established Foundation Medicine, which ran 6,428 clinical tests in the third quarter, as well as the larger academic centers that are doing their own tumor profiling.

Increasingly, though, researchers are demonstrating that such tumor profiling approaches are useful for identifying alternative therapies if a patient relapses or doesn't respond to the conventional treatment. 

At last week's meeting, Foundation Medicine also presented data on its FoundationOne test, which analyzes over 300 genes. In one poster, the company showed data from 7,300 cases, including a large number of breast cancer patients, who were analyzed for Herceptin-responsive ERBB2 mutations. Compared to conventional diagnostic testing, like FISH or immunohistochemistry, FoundationOne identified 25 percent more cases that may be amenable to targeted therapy. ERBB2 mutations were identified in 131 samples and amplifications identified in 246 samples.

Additionally, in a prospective, ongoing study done in collaboration with researchers at Ohio State University, the group found that of 37 breast cancer cases that have been analyzed so far with FoundationOne, 97 percent were matched with at least one FDA-approved treatment or clinical trial, including 24 patients that were matched with an FDA-approved breast cancer therapy and 24 patients that were matched with a treatment approved for an indication other than breast cancer. 

In general, Gunn said that the growing evidence supporting comprehensive tumor profiling as clinically useful is a good thing. "I'm glad that genome-wide profiling of tumors is becoming more accessible and accepted in the medical community," she said. And the more information on the mutational landscape of tumors, the more the clinicians will understand about how to treat tumors, and the more likely such tests will be reimbursed. 

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