Whole exome sequencing when applied in a clinical setting is a game changer for our 整个 health system.
Gregory J. Tsongalis博士With an eye on better precision medicine, researchers in The 十大网赌平台推荐卫生 Center for Clinical Genomics 和 Advanced Technology (CGAT), located in the Department of Pathology 和 Laboratory Medicine, have scaled up efforts to look for genetic variants (mutations) in patients with a variety of disorders, 包括癌症.
直到现在, molecular profiling efforts for both cancer 和 inherited diseases only looked at the most commonly altered genes known to impact the diagnosis of disease 和 a patient’s response to therapy. “Whole exome sequencing” allows the laboratory to sequence all 20,000+ genes to get a complete look at a patient’s 整个 genetic code 和 allow oncologists to pinpoint better therapeutic strategies. However, this type of sequencing generates tb 和 pb of data—or to put it in perspective, more data than several health systems in their 整个ty. The challenge then becomes finding a way to analyze such enormous datasets.
Parth年代. 沙阿, MD, 基因组信息学主任, 和 his team have developed computer algorithms to do just that. “We have implemented a unique system that combines lab testing 和 data analysis in a timely fashion that will have a direct impact on patient care,沙阿说。.
Having a comprehensive molecular profile allows providers to select the most appropriate 和 best targeted therapy for their patients. “The data we get from whole exome sequencing will significantly advance our capabilities in precision medicine, including the identification of extremely rare genetic changes, which are not detectable by routine testing,” 劳拉·J. 马里兰州,南美洲, Assistant Director of CGAT 和 lead investigator on the somatic cancer testing whole exome sequencing project.
Tafe also directs the 十大网赌平台推荐癌症中心’s Molecular Tumor Board, “A goal of which is to identify patients who may be eligible for clinical trials based on cancer sequencing data,她说。. “With whole exome sequencing we’ll be able to find more patients eligible for precision-based treatment options.”
While a major focus of the CGAT whole exome sequencing effort has been focused on cancer, the new test is also being applied to the detection of variants associated with hereditary disease conditions. “The ability to look across the 整个 genome instead of just at a few genes, makes the diagnosis of complex hereditary diseases more feasible,Wahab A说. 汗, 博士学位, Assistant Director of CGAT 和 lead investigator for the germline whole exome sequencing project. “We will play an unprecedented role in defining 和 detecting rare hereditary disease conditions seen in our rural population,汗说。.
病人 和 their families are the ones to benefit most from this new testing. 除了, the massive amounts of data generated will allow researchers at 十大网赌平台推荐卫生 和 worldwide to probe the underlying mechanisms of disease in an attempt to develop better diagnostic testing 和 therapeutics.
十大网赌平台推荐健康学院, patients can expect the most state-of-the-art testing that is leading the way in precision medicine. “Whole exome sequencing when applied in a clinical setting is a game changer for our 整个 health system,” Gregory J. Tsongalis博士， CGAT主任. “据我们所知, 十大网赌平台推荐癌症中心 is the only cancer center in the country routinely doing clinical whole exome sequencing on solid tumors. Other centers are doing this on a research basis only. Sequencing is being run on specific tumor types at the moment, with the future goal of running it on all cancer patients." Tsongalis also notes that some insurance companies cover the service while others do not, 但这种情况正在慢慢改变.
通过CGAT, 十大网赌平台推荐癌症中心 is now able to provide locally the most advanced, cutting-edge testing which is currently available in only a h和ful of institutions in the world. Testing makes sure patients have the best possible chance of being matched to the most appropriately tailored treatment strategy for them.