Home >> Tag Archives: Genomics (see also Pharmacogenomics)

Tag Archives: Genomics (see also Pharmacogenomics)

Next act in genomics: the consumer orders

April 2019—For years, laboratories have chafed against testing being, literally and figuratively, an out-of-sight, out-of-mind transaction. Now a new, highly visible era in genetics may be pushing testing the other way, into the hands of consumers who value entertainment as well as medical information. Anyone who wants to write a book about this shift has a ready-made title: From Basement to Big Top. It’s not that clinical testing is becoming an actual circus. But ever since the first consumer genetic tests entered the market in 2007—in a nonphysician-ordered, SNP array technology way—labs, physicians, and regulatory agencies have had plenty to juggle.

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Time now for tumor mutational burden?

November 2018—Like a piece of so-called sticky music, cutoff numbers can persist in physicians’ minds outside of any real clinical value and, in the process, leave their laboratory colleagues mildly befuddled (not to mention searching for more useful cutoffs). Such a jingle is creeping into tumor mutational burden. Lauren Ritterhouse, MD, PhD.

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Molecular tumor boards: fixture or fad?

October 2014—Along with everything else the genomics revolution has wrought, there’s this: Molecular testing is threatening to turn medicine into an ongoing episode of “Hoarders.” So much information and so many possible uses for it—including, in some cases, none at all. The expansion of molecular testing is also upending the role of the traditional tumor board.

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Virus or bacterium? Gene expression may tell

September 2014—At the 30th Annual Clinical Virology Symposium this spring, Gregory Storch, MD, related a typical case of a febrile child seen in the emergency department. Dr. Storch, a professor of pediatrics at Washington University School of Medicine, described a 20-month-old boy with a fever of 40°C, rash, cough, and nasal congestion but no gastrointestinal symptoms. White blood cell count was 7,800/µL. Blood culture was negative and a chest x-ray showed mild peribranchial thickening. Diagnosis, Dr. Storch says, was “viral syndrome.” The patient got a dose of ceftriaxone, which was “reasonable,” in Dr. Storch’s view, in light of the patient’s fever and the presence of bands on the peripheral blood smear.

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NGS to detect oncogenes—sizing panels, reporting results

June 2014—Scientific wonders always abound at the Advances in Genome Biology and Technology conference, and this year’s meeting in February was no exception. Attendees had their first opportunity at a scientific meeting to learn about the newly announced Illumina HiSeq X Ten, a combination of 10 HiSeq X systems, which, Illumina says, can sequence 16 whole human genomes per three-day run at a read depth of 30× and a cost of $1,000 per genome. At the other end of the scale, attendees saw the unveiling of Oxford Nanopore’s MinION, a sequencer the size of a pack of chewing gum.

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microRNAs entice as diagnostic key to multiple diseases

June 2014—In research and development of diagnostics based on the small, non-coding RNAs known as microRNA, the potential clinical applications in cancer were the first to be explored and have hogged the spotlight. But the more light that is shed on micro­RNAs’ mysteries, the more promise microRNA shows as a diagnostic and therapeutic tool in an array of diseases beyond cancer.

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‘Extra’ genetic info—too much, too quickly?

October 2013—In the 1997 film “Gattaca,” the movie-going public was introduced to a world in which biology was quite literally destiny. A world in which the probabilities encoded in one’s genome dictated virtually every aspect of one’s existence and where those found genetically wanting were relegated to society’s margins. Fortunately, genomics has so far yielded nothing so nefarious nor is it ever likely to, thanks in part to the vigorous debate that accompanies advances in genetic and genomic technologies. An example of this is the debate underway, and making medical news, among physicians, ethicists, and laboratory directors over the American College of Medical Genetics and Genomics’ recommendations on the reporting of incidental findings.

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