James R. Lupski Archives

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

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…)

New Finding Has Major Implications for Genetic Testing as Researchers Learn that Greater Numbers of Humans Have Multiple Personal Genomes

Dec 30, 2013 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations

New insights about personal genomes will give pathologists and clinical laboratory scientists different ways to use genetic tests in the screening, diagnosis, and treatment of disease

Here is a human genome curve ball for pathologists and clinical laboratory scientists engaged in genetic testing in their medical laboratories. New research indicates that a larger number of humans than was once believed may have more than one genome. This has implications for many medical and health issues.

Until recently, scientists assumed that, as a rule, each individual had a unique genome. Conditions such as mosaicism and chimerism were considered a rarity.

Greater Incidence of Multiple Genomes in a Single Individual (more…)

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

New Finding Has Major Implications for Genetic Testing as Researchers Learn that Greater Numbers of Humans Have Multiple Personal Genomes

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