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…)
Jul 2, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
Exogen uses crowdfunding to both collect needed specimens and raise capital to pursue FDA clearance for its proposed medical laboratory test that would identify an individual’s damaged DNA
It might be coming soon to a pharmacy or other retail store near you: a medical laboratory test kit allows consumers to test themselves for damaged DNA. This bold new world for genetic testing is the vision of a new company in San Francisco called Exogen Biotechnology.
This startup business was co-founded by Sylvain Costes, Ph.D., a nuclear engineer who serves as Exogen’s Chief Executive Officer, and Jonathan Tang, Ph.D., a bioengineer. Their team is developing a blood test that will enable consumers to monitor their own DNA damage and take actions to reverse the damage. (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…)
Dec 18, 2013 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Management & Operations, Uncategorized
Adoption of digital PCR is slow at this time, but pathologists may want to track how researchers use this technology in the new clinical laboratory assays they use
Molecular pathologists will be interested to learn that there is a new contender in the polymerase chain reaction (PCR) arena. It is digital PCR, and it has specific advantages over traditional real-time PCR methods.
For example, digital PCR can target specific DNA sequences in just one molecule of DNA. This new tool allows researchers to isolate rare genetic mutations too difficult to segregate with real-time PCR, noted a report from Insight Pharma Reports. (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…)
