Genomic Health Announces Results from Two Studies Demonstrating Innovations in Next Generation Sequencing From Paraffin Tissue, Enhancing Understanding of Tumor Biology

REDWOOD CITY, Calif., Feb. 25, 2013 /PRNewswire/ -- Genomic Health, Inc. (Nasdaq: GHDX) today announced the results of two studies demonstrating that DNA strand-of-origin information can help further refine the identification of prognostic biomarkers, and that tumor specific gene mutations can be effectively examined using archival fixed paraffin embedded tumor (FPET) tissue, enabling an improved and more practical process of tumor analysis. These new findings were presented at the 14th Annual Advances in Genome Biology and Technology (AGBT) meeting in Marco Island, Fla.

"Our continued research efforts demonstrate the biological and technical capabilities of our advanced next generation sequencing (NGS) methods for biomarker discovery and validation," said Steven Shak, M.D., chief medical officer and executive vice president for research and development at Genomic Health.  "These findings will accelerate the development of future tests based on our ongoing clinical research that combines both whole transcriptome profiling and mutation analysis."

Novel Next Generation Sequencing and Bioinformatics Methods Enhance Biomarker Discovery

• Building on study results published in PLoS One -- where Genomic Health scientists carried out whole transcriptome RNA-Seq on FPET RNA from a cohort of 136 breast cancer patients -- this analysis evaluated the impact of DNA strand-of-origin information on the identification of prognostic biomarkers.  

During DNA transcription, only one of the two double-stranded DNA molecules is used as a template for an RNA transcript and protein production.  Analytic approaches that do not consider the strand-of-origin of RNA sequencing data can be limited in their accuracy in assigning reads to human genes.  Therefore, to perform this study, Genomic Health scientists developed a proprietary NGS and bioinformatics approach to produce a more definite specification of the strand-of-origin of the RNA transcript.  The application of this method enabled more precise detection of expressed genes that were significantly associated with breast cancer recurrence, and permitted the identification of 228 additional candidate genes associated recurrence risk in breast cancer.

Enabling Detection of Tumor Specific Mutations Using FPET to Improve Precision of Cancer Diagnosis

• Reliable differentiation between inherited variations in DNA (germline mutations) and tumor specific variations in DNA (somatic mutations) plays a key role in determining the accuracy and precision of cancer genome sequencing.  However, optimally, determination of germline mutations requires the presence of the blood samples in addition to the FPET specimen.  This new study showed that by utilizing Genomic Health's proprietary NGS methods to analyze archival FPET specimens, the company can now reliably detect germline variants and tumor specific mutations when the patient's blood sample is not available.

As part of this study, 190 frequently mutated cancer genes were sequenced using the Illumina HiSeq™ 2000 System from FPET blocks, analyzing both the patient's tumor tissue and adjacent non-tumor tissue. Similar sequence analysis was performed on patient-matched blood samples. Readily-available adjacent non-tumor tissue in the FPET specimen was a sufficient alternate source of germline variants to enable the accurate detection of cancer-specific somatic mutations in the tumor.

"Individual patients have an abundance of unique somatic mutations which underscores the heterogeneity of cancer and the importance of gaining better understanding of individual tumor biology for more accurate diagnosis," said Samuel Levy, Ph.D., Genomic Health's chief scientific officer.  "By applying this technique to work with patients' archival FPET tissue to identify and account for germline variants, we can learn more from the FPET tumor tissue saved from landmark clinical studies when matched blood samples are not available."

About Genomic Health

Genomic Health, Inc. (NASDAQ: GHDX) is a global healthcare company that provides actionable genomic information to personalize cancer treatment decisions.  The company's lead product, the Oncotype DX^® breast cancer test, has been shown to predict the likelihood of chemotherapy benefit as well as recurrence in invasive breast cancer and has been shown to predict the likelihood of recurrence in ductal carcinoma in situ (DCIS).  In addition to this widely adopted test, Genomic Health provides the Oncotype DX colon cancer test, the first multi-gene expression test developed for the assessment of risk of recurrence in patients with stage II and stage III disease.  As of December 31, 2012, more than 10,000 physicians in over 65 countries had ordered approximately 335,000 Oncotype DX tests.  Genomic Health has a robust pipeline focused on developing tests to optimize the treatment of prostate and renal cell cancers, as well as additional treatment decisions in breast and colon cancers.  The company is based in Redwood City, California with European headquarters in Geneva, Switzerland.  For more information, please visit, www.GenomicHealth.com. To learn more about Oncotype DX tests, visit: www.OncotypeDX.com and www.mybreastcancertreatment.org. 

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to our ability to generate similar results in further studies, the clinical utility of our next generation sequencing capabilities; our ability to develop whole transcriptome and/or genome expression analysis for routine clinical study; the belief that whole genome expression may accelerate clinical or biomarker discovery; our ability to develop, validate or commercialize advanced diagnostics based upon such genome expression data; the timing of such studies and results;  the company's ability to accelerate its research and development efforts to move whole genome expression technology into clinical studies and; the company's ability to obtain intellectual property protection for such discoveries. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the risks and uncertainties associated with the regulation of our tests; the applicability of clinical study results to actual outcomes; the risks and potential delays associated with such studies; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2012. These forward-looking statements speak only as of the date hereof. Genomic Health disclaims any obligation to update these forward-looking statements

NOTE: The Genomic Health logo, Oncotype, Oncotype DX, Recurrence Score, and DCIS Score are trademarks or registered trademarks of Genomic Health, Inc. All other trademarks and service marks are the property of their respective owners.  

SOURCE Genomic Health, Inc.