‘Genetic Testing Handbook’ Provides Physicians, Pathologists, and Clinical Lab Managers with Comprehensive Reference for Clinical Genome and Exome Sequencing

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...

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...

Weill Cornell and New York Presbyterian to Create New Precision Medicine Institute to Use Genome Sequencing to Individualize Cancer Treatment

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...
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