Informatics – "Introduction to Molecular Pathology" – Aaron Bossler, MD

hello I'm Aaron Bosler and I'm a pathologist at the University of Iowa Hospitals and Clinics I direct the molecular pathology laboratory in the department of pathology and our lab provides clinical molecular genetic testing and interpretation for neoplastic genetic and infectious diseases today I'm here to tell you about our latest advance in molecular oncology testing as you know cancer arises from the accumulation of mutations that transform the normal cell research has found that some of these mutations can be used as important biomarkers in cancer some have been shown to help diagnose specific types of tumors or to have prognostic value in predicting survival or to help guide therapeutic decision-making our laboratory has validated several single target assays for the detection of many of these clinically important mutations one example includes testing for kyra's gene mutations the presence of a mutation in the K rass gene and colorectal adenocarcinoma is a contraindication for including anti-egfr molecular targeted therapy in the patient's chemo therapeutic regimen thus this helps the physician to tailor the therapy for the patient's specific tumor genetics to be able to more comprehensively characterize tumors at the genetic level we recently added multi targeted mutation testing with the cancer mutation profiling essay the assay targets over 2800 commonly mutated or hotspot regions of 50 different cancer related genes this type of genomic testing uses the next-gen sequencing instrument called the Ion Torrent personal genomics machine or PGM for short the PGM is a massively parallel DNA sequencing instrument that uses semiconductor chips to perform the simultaneous sequencing of millions of strands of DNA this platform is quite versatile and it has several advantages for oncology testing for one it allows us to use very small tumor specimens because it requires only a small amount of DNA this is become increasingly important as tumors are detected earlier and biopsy specimens contain fewer tumor cells too it can also be performed quickly so that the time to results can be within the window for impacting treatment decisions 3 this method has great sensitivity or the ability to tech mutations at low levels this is important if the mutation confers resistance to a molecular targeted drug as those tumor cells that have the mutation are likely to survive that particular treatment when it's used alone also new mutation panels can be developed quickly as new genetic targets and mutations are identified because this panel includes a wide spectrum of cancer related genes it has utility for testing several different types of tumors including lung colon white cell bladder and kidney and skin and soft-tissue tumors to name just a few our experience with testing has shown the results are particularly useful to clinicians in detecting mutations that potentially qualify a patient for specific therapeutic clinical trials we're very excited to have recently added the cancer mutation profiling assay to the array of molecular oncology tests we provide here at the University of Iowa and we anticipate the development of additional multigene oncology panels to advance the care of our patients we welcome you to contact us in the molecular pathology lab to learn more you

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