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
, Inc. (NASDAQ:
) 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
and has been shown to predict the likelihood of recurrence in
ductal carcinoma in situ (DCIS)
. In addition to this widely adopted test,
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
focused on developing tests to optimize the treatment of
and renal cell cancers, as well as additional treatment decisions in breast and colon cancers. The company is based in
with European headquarters in
, Switzerland. For more information, please visit,
. To learn more about
Oncotype DX tests
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.