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…)
Apr 6, 2015 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
However, China has a shortage of well-trained pathologists, which is why some American lab organizations are establishing medical lab testing ventures in China
If experts are right, a company in China is poised to become the world’s largest at gene sequencing. In addition, the huge volume of genetic data it generates is expected to give this company the world’s largest database of genetic information.
Such developments could mean that, in just a few years, many pathologists and molecular Ph.D.s in the United States will be accessing this trove of genetic data as they conduct research to identify new biomarkers or work with clinical specimens.
The company at the center of all this attention is genome-sequencing giant BGI, located in Shenzhen, China. It owns 230 of the largest, high-throughput gene-sequencing machines and wants to become the world’s largest genome-mapping company. (more…)
Apr 23, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
Findings may help physicians tailor cervical cancer therapies to specific gene mutations and improve the accuracy of diagnostic screening tests for this disease
New scientific knowledge about the role of human papillomavirus (HPV) in the growth of cervical cancer is creating excitement within the medical community. Among other things, these findings could encourage more widespread vaccination against HPV. That in turn would lead to reduced Pap smear testing by pathology laboratories over time.
For these reasons, cytopathologists and cytotechnologists will be particularly interested in the research findings that were published as a first-ever, international genomic study of cervical cancer, which was published online December 25, 2013, at Nature.com. Researchers discovered that the location where HPV integrates itself into the human genome, is where it causes amplified gene expression that promotes and elevates mutated gene activity that may cause cervical cancer to develop. (more…)
Apr 21, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Pathology
Gene sequencing for clinical purposes requires more resources, including the costs of experts to interpret data to help pathologists and physicians involved in the case
It was January when headlines nationwide trumpeted Illumina’s introduction of the $1,000 genome. The story in Forbes Magazine, “The $1,000 Genome Arrives—For Real, This Time,” was typical of much of the press coverage.
Because pathology groups and clinical laboratories have much at stake in the race to the $1,000 whole-human genome sequence, it is important to know the real facts about the cost and performance of Illumina’s latest generation of genome sequencing technology. After all, corporate press releases are intentionally designed to present a company’s product in the best possible light. (more…)
Feb 26, 2014 | Digital Pathology, Instruments & Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
Researchers at Penn State identified 160,000 ‘transcription initiation machines’ throughout the human genome
DNA “dark matter” may have something in common with comedian Rodney Dangerfield, who liked to say, “I don’t get no respect!” As many pathologists know, for years the human exome that has been the focus of most research. This is the 1% of the human genome that contains the genes that produce proteins and do other useful functions.
Meanwhile, the remaining 99% of the human genome—sometimes called “junk DNA” and generally known as dark matter—got relatively little attention from researchers. But that is changing. At Pennsylvania State University, a research team has discovered that coding and noncoding RNA, or genomic dark matter, originates at the same types of locations along the human genome.
(more…)
