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 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…)
