Nov 2, 2015 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Pathology
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 genomes of tumors of patients with unresponsive cancers were sequenced at the Institute for Precision Medicine at Weill Cornell and New York-Presbyterian Hospital Weill Cornell Medical Center. The outcomes of this effort demonstrates how the results of such testing can help patients who had not found an effective therapy to control their cancers. (more…)
Apr 17, 2015 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory Pathology, Laboratory Testing
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 the University of Texas Health Science Center at Houston have released results of a large sampling of 2,000 consecutive patients.
In this expanded study, published in the November 12, 2014, issue of the Journal of the American Medical Association (JAMA), 504 patients (25.2%) received a molecular diagnosis and 92 patients (4.6%) benefitted from medical intervention to ameliorate or eliminate negative symptoms. (more…)
Aug 22, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
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 false-negative rate of mutations in 56 disease-causing genes produced by four different commercially available human exome-capture test kits. The researchers found that these test kits failed to deliver quality results, sometimes missing mutations altogether, noted a report published by Medical Daily. (more…)
Jun 4, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations
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. That’s because a faster time-to-answer from gene sequencing would increase its diagnostic and therapeutic value to clinicians.
Faster and more accurate analysis of genomic data holds the promise of advances in patient management and greater understanding of the genetic causes of risk and disease. This could mean expanded opportunities for pathologists to engage with clinicians in the use of genomic data to inform diagnosis, choice of treatment, and disease management. (more…)
May 24, 2013 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology
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 pathologists and clinical laboratory managers, these new research findings hold the promise to open up another approach to using the data in whole human genomes for diagnostic and therapeutic purposes. It also shows one more practical outcome from the rapidly falling cost of sequencing DNA. (more…)
