News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
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Point-of-Care DNA Sequencer Inching Closer to Widespread Use as Beta-Testers Praise Oxford Technologies’ Pocketsize, Portable Nanopore Device

MinION could help achieve NIH’s goal of $1,000 human genome sequencing and in remote clinics and outbreak zones shift testing away from medical laboratories

Point-of-care DNA sequencing  technology is edging ever closer to widespread commercial use as the Oxford Nanopore MinION sequencer  draws praise and registers successes in pre-release testing.

A pocketsize gene-sequencing machine such as the MinION could transform the marketplace by shifting DNA testing to remote clinics and outbreak zones while eliminating the need to return samples to clinical laboratories for analysis. Such devices also are expected to increase the need for trained genetic pathologists and medical technologists. (more…)

Medical Scientists Call for Standard Method for Validating Antibodies Used in Research and Clinical Laboratory Diagnostics

Antibody validation standards would help ensure reproducibility of research studies and improve the consistency medical laboratory test results

As science and industry gets better at measuring things and assessing quality, the acceptable standard often comes into question. This seems to be happening with antibodies, the most common reagents used in diagnostics, clinical laboratory diagnostic tests, and medical research. In many cases, the end result is that companies and their suppliers must use new technologies and quality methods to revise the “old way” and create products that have measurable better quality.

The techniques currently used to validate antibodies is the topic of a recently-published scientific paper. The authors of a paper published in the March, 2010, issue of Biotechniques pointed out, antibody validation and standardization ensure study reproducibility, which is critical to accuracy. And yet, no standard guidelines define how these important biological tools should be validated prior to use.

Thus, researchers participating in a recent webinar, presented by The Scientist expressed concern that—without improved antibody validation and standardization—the accuracy of published research is in question and diagnostic test results, such as those produced by medical laboratories, will continue to be inconsistent. (more…)

Use of “Long Read” Gene Sequencing Allows University of Washington Researchers to Uncover Thousands of Never-before Seen Gene Variations

This and similar research initiatives expected to increase the number of genetic markers that would be useful for creating clinical pathology laboratory tests and therapeutic drugs

Whole human genome sequencing continues to become faster, easier, cheaper, and more accurate to do. Because of these advances, the sheer number of human genomes being sequenced is skyrocketing. This huge increase in data is helping researchers unlock many new insights that, in turn, are fueling efforts to develop useful new medical laboratory tests and therapeutic drugs.

This is happening at the University of Washington (UW), where researchers using new genome sequencing technology are uncovering thousands of never-before-seen genetic variants. The application of “long read” gene sequencing technologies is allowing these researchers to identify genetic variants previously unknown, and that are made up of between 50 and 5,000 base pairs.

The discovery is important for two reasons. First, it could close existing gaps in the genome map. Second, it could help scientists identify new genomic variations that are closely associated with difficult-to-diagnose diseases. Of interest to pathologists and clinical laboratory professionals, such discoveries could point to expanded use of genetic testing for diagnosis and treatment of disease. (more…)

Cornell Researchers Identify Gut Microbes that May Help Some People Remain Thin; Findings Could Result in Clinical Laboratory Tests to Analyze the Microbiomes of Individuals

Additional studies are needed before medical laboratory tests for ‘lean’ microbes can be developed for use by physicians treating overweight and obese patients

Researchers at Cornell University have identified a family of microbes that may provide a genetic explanation for why some people are able to stay thin. If their findings are validated, a clinical laboratory test for these bacteria, and a macrobotic regiment to help people lose weight or stay lean, could be down the road.

Emerging Field Involving the Human Microbiome

The Cornell study was published in November 2014 in the journal Cell. It spotlights one bacterial taxon, the family Christensenellaceae, which was only named in 2012. That makes it a relatively new subject for researchers in the booming human microbiome sector.

Ruth Ley, Ph.D., is a Cornell University Associate Professor of Microbiology, and the research paper’s senior author. She believes the new Cornell study makes clear the connection between the human genotype and health-associated gut bacteria. (more…)

New Insights into Genetic Mechanisms Common to Humans and Simpler Species May Form the Basis for New Diagnostic Tests Performed by Clinical Pathology Laboratories

Scientists participating in the modENCORE study have the goal of understanding the causes of hereditary genetic diseases in humans

New discoveries about the interaction of genes and transcription factors in creating different types of RNA will be of interest to pathologists and clinical chemists performing genetic tests and molecular diagnostic assays in their medical laboratories.

The goal of this research is to better understand hereditary genetic disease in humans. The new knowledge is based on studies of the common fruit fly, or Drosophila melanogaster (D. Melanogaster), and to a lesser extent a tiny worm Caenorhabditis elegans (C. elegans). Both have been used as research models to study the human condition.

Research Could Give Pathologists New Diagnostic Tools (more…)

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