THE LABORATORY REPORT Summer 2014 Page 3 New Tests Available from Houston Methodist Diagnostic Laboratory: Next-Generation Sequencing Cancer Assays Cancer is a disease of hyperproliferative cells, usually caused by mutations in several genes that control normal cell homeostasis. Traditionally, cancer patients have been assigned a generic chemotherapy regiment, radiation, and/ or surgery based on the clinical knowledge gathered from patients with similar cancer types. Advances in basic science and clinical diagnostics within the last decade have brought about a paradigm shift, in which patients diagnosed with a particular type of cancer are further subdivided into categories based on their molecular tumor profile and then “targeted” therapeutics can be administered, if available. However, the major hurdle in this approach was the time and technical capabilities required to extensively characterize each patient’s tumor. Next-Generation Sequencing (NGS) is a relatively new technique that allows for analysis of the tumor at a genetic level, and has been added to the battery of clinical cancer diagnostics only very recently. NGS assays have modernized the medical research field by providing a rapid, inexpensive, and highly scalable method for genetic analysis. Using the Ion Torrent Personal Genome NGS System from Life Technologies, Dr. Bryce Portier and his team from the Department of Pathology and Genomic Medicine validated a new assay that investigates over 200 mutations in 50 cancer-related genes that are most frequently found in tumors. Some of these genes include EGFR, HER2, AKT, and KRAS, all of which are known drivers of cancer progression. This new NGS cancer assay is ready for immediate implementation to aid in clinical care. The system can analyze up to 8 patient samples per run and can complete sequencing in 4-6 hours. The Molecular Diagnostics Laboratory plans to run NGS analysis once per week, but it is expected that as demand increases so will the run frequency. As the NGS technology continues to evolve, our Department recently expanded its NGS capabilities to include the Ion Proton and Ion Chef from Life Technologies. These highly advanced, cutting-edge instruments are poised to revolutionize cancer research and treatment and will be utilized in conjunction with the existing NGS portfolio. For instance, the newlyacquired Ion Proton adds 10 times the current sequencing capacity , and will allow for future full-exome assays. Dr. Portier’s team is now working to expand the existing NGS cancer assay by designing cancer type-specific assays. For example, a proprietary breast cancer-specific assay will add mutation detection for 32 additional genes specific to breast cancer. Likewise, a hematologic cancer panel will include detection of mutations and clinicallyrelevant chromosomal translocations for blood malignancies. In summary, NGS technology is driving rapid advancements in translating personalized cancer therapeutics from the bench to the bedside. Patients’ tumor samples collected during the initial diagnosis can be sent for NGS analysis and the results will be available prior to patients’ next follow-up oncologist visit. Thus, patients will be assigned more specific, targeted therapy regiments early, when their likelihood of achieving a strong clinical response is the highest. “The NGS diagnostic tools are so novel, they are only available in a few reference laboratories across the country. By validating this technology here at Houston Methodist, we will truly be leading cancer medicine.” - Dr. Bryce Portier Ion Proton sequencer (Life Technologies) For more information on this assay or any Molecular Diagnostics Laboratory test, please contact: Dr. Randall Olsen (RJOlsen@houstonmethodist.org) Dr. Bryce Portier (BPPortier@houstonmethodist.org) Ms. Heather Hendrickson (HLHenderson@houstonmethodist.org) The Molecular Diagnostics Laboratory can be reached by phone at 713-441-5727.
The Laboratory Report - Summer 2014
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