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...

China’s Genome-Mapping Giant BGI Is Poised to Become an International Leader in Gene Sequencing and May Play Major Role in Interpretation of Genetic Test Results

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...

Genomic Study Reveals Role of Human Papillomavirus in Cervical Cancer and Identifies Novel Therapeutic Targets for the Disease

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....

Is Illumina’s $1,000 Genome a Realty? Not for Clinical Laboratory Purposes, Asserts an In Vitro Diagnostics Expert

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...

New Research Findings Determine that ‘Dark Matter’ DNA Does Useful Work and Opens Door to Develop More Sophisticated Clinical Pathology Laboratory Tests

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...
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