Genome Sequencing of Tumors Are Helping Pathologist and Physicians Identify Useful Therapies for Patients with Unresponsive Cancers

Early research projects to sequence tumors in clinical settings are helping physicians and pathologists identify mutations that respond to specific therapeutic drugs Step by step, progress is happening in the use of genome sequencing to advance personalized and precision medicine, with clinical laboratories and pathologists in the forefront of these developments. Much of this effort is focused on cancer and the sequencing of tumors. One recent example comes from New York City, where the...

Studies Show How Clinical Whole-Exome Sequencing May Forever Change the Future Practice of Medicine while Giving Pathologists a New Opportunity to Deliver Value

Similar study of exome sequencing at UCLA produces findings that mirror the diagnostic outcomes produced by researchers at the three Houston organizations In recent years, pathologists and other clinical laboratory professionals have seen increasing evidence of the benefits of using exome sequencing for clinical diagnostic purposes. Confirming their initial published findings of a 25% molecular diagnostic rate, researchers from Baylor College of Medicine (BCM), Baylor Human Genome Center, and...

Thomas Jefferson University Study Finds Critical Weakness in Commercially Manufactured Exome-Capture Test Kits Used by Some Medical Laboratories

The four exome test kits examined as part of this study failed to deliver quality results, particularly because they often missed some disease-causing mutations altogether Human exome sequencing is gaining favor among medical laboratories wanting to use this information for clinical purposes. However, the accuracy of some exome-capture test kits available on the market today has come under question. A team from the Thomas Jefferson University in Philadelphia surveyed the potential...

Study at University of Chicago Uses Supercomputer to Shorten Time Required to Analyze Whole Human Genome Sequences; May Help Pathologists Deliver Faster Diagnoses

Achievement at University of Chicago may help clinical laboratories analyze large quantities of genomic data much faster than ever before, thus shortening the time required to produce a diagnostic result It’s a breakthrough in the time required to analyze data from whole human genome sequencing. Researchers at the University of Chicago have successfully demonstrated that genome analysis can be radically accelerated. This could be a big deal for pathologists and clinical laboratory scientists....

Whole-Genome Scanning Reveals Mutations in Melanoma DNA ‘Dark Matter’ and May Offer New Source for Clinical Pathology Laboratory Tests

New discoveries demonstrate important advantages of whole-genome sequencing in investigations of DNA ‘dark matter’ and shed light on the possible origins of cancer Whole-genome scanning of cancer cells revealed significant mutations in the “dark matter” areas of melanoma DNA. This represents a leap forward in the basic science of cancer. Easier access to whole-genome sequencing means that researchers are poised to mine a rich vein of data that will shine a light on how cells malfunction. For...