Oct 27, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Pathology
This new tool offers clinicians the dos and don’ts of genetic testing, what physicians need to know to do it properly
Clinical use of gene sequencing information has advanced to the point where a team of genetic experts has compiled and issued the Genetic Testing Handbook. The goal of the clinical genome and exome sequencing (CGES) handbook is to provide clinicians—including pathologists and clinical laboratory scientists—with a useful reference tool.
The authors of the Genetic Testing Handbook are Leslie G. Biesecker, M.D., of the National Human Genome Research Institute (NHGRI) in Bethesda, Maryland, and Robert C. Green, M.D., M.P.H., a geneticist who is an Associate Professor of Medicine at Harvard Medical School.
Primer Distills Human Genome Project Technologies for Practical Use
“The technologies that were used for the Human Genome Project are now distilled down to practical tools that clinicians can use to diagnose and, hopefully, treat diseases in patients that they couldn’t treat before,” stated Biesecker, who serves as Chief and Senior Investigator at the NHGRI’s Medical Genomics and Metabolic Genetics Branch, in a press release issued by the National Institutes of Health (NIH). (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…)
May 29, 2013 | Digital Pathology, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations
Pathologist Mark Rubin, M.D., is named to direct this early effort to adapt diagnostic and gene sequencing technologies to support personalized medicine
Following several years of experience with whole genome sequencing of tumors, two premier medical institutions announced their intent to move to the next step and establish an institute to support precision medicine. A prominent pathologist was named to head up this new institute.
Weill Cornell Medical College and New York-Presbyterian Hospital established a new, cutting-edge translational medicine research facility. It is called the Precision Medicine Institute and will use patients’ unique genetic profiles to develop individualized approaches for treating prostate cancer. (more…)
