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…)
Dec 12, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Pathology, Management & Operations
Funded by both for-profit and not-for-profit organizations, this new gene sequencing center is preparing to offer its first genetic tests for use in patient care
Next-generation gene sequencing for clinical diagnostic applications is moving forward at the New York Genome Center (NYGC). Located in New York City, the center is designed to be a genetic medicine technology incubator and has funding from a number of for-profit and not-for-profit sources.
For pathologists and medical laboratory administrators, this creation and operation of this independent sequencing center is a notable development. It shows the willingness of different organizations to come together and fund a collaborative venture to advance exome sequencing and whole-genome sequencing for clinical purposes.
NYGC’s new clinical laboratory obtained a permit from the New York State Department of Health. It also is preparing to submit its first clinical sequencing test—an exome test for inherited disorders—to the state in August, according to a story published in Clinical Sequencing News and posted on GenomeWeb. (more…)
May 14, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
More precise diagnoses will encourage pathologists and clinical laboratory professionals to consider using exome sequencing for clinical diagnostic purposes
Having sequenced the exomes of 150 patients to diagnose unknown disorders over the past year, physicians at Columbia University (CU) used that information to make decisive diagnoses in one-third of the cases. It is evidence from one of the nation’s pioneering gene-sequencing programs that such data can improve how physicians identify disease.
Findings from Exome Sequencing Program Noteworthy for Pathologists
Pathologists will find it noteworthy that some of the patients in the exome-sequencing program had been tracked for years at CU without a definitive diagnosis. This is why clinicians at the academic center in New York City see value in exome sequencing for selected patients.
For more than a year, doctors at Columbia University have tested the exome’s capability to provide a correct diagnosis for patients with suspected genetic disorders of unknown origins. The primary goal of the program is to prove that sequencing the exomes of these patients is both clinically useful and cost effective in guiding physicians to a correct diagnosis. (more…)
Apr 30, 2014 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Management & Operations
Pathologists and clinical laboratory managers may soon see this innovative combination of diagnostic technologies used in developing nations
There is now a technology that combines synthetic biomarkers with a paper-based urine test that can detect colorectal cancer and thrombosis in just a few minutes. Medical laboratory tests incorporating this diagnostic technology would be accurate, cheap, and simple enough to perform in developing countries.
Researchers at Massachusetts Institute of Technology (MIT) say that the new technology opens the door to development a cheap diagnostic tool for a range of noncommunicable diseases (NCD). This could revolutionize diagnostic testing of NCDs, with particular significance for developing countries. (more…)
Dec 2, 2013 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Pathology, News From Dark Daily
Clever entrepreneur thinks up inventive way to truly do clinical laboratory tests at the ultimate point of care and use a smart phone application to alert the doctor
With the advent of digital technology and smartphones, medical laboratory testing is moving out of the central laboratory and into the bedside, homes and now into diapers! A new digital “Smart Diaper” invented by New York startup Pixie Scientific constantly monitor’s a baby’s health to detect urinary tract infections, kidney problems, or dehydration early, before the health issue escalates.
‘Smart Diaper’ Tweets When It Detects a Health Problem (more…)
