Home >> Tag Archives: Genetics/genetic testing/genomics (see also Next-generation sequencing, Pharmacogenetics)

Tag Archives: Genetics/genetic testing/genomics (see also Next-generation sequencing, Pharmacogenetics)

Genetics lands in primary care inboxes

June 2019—It took David Ledbetter, PhD, a mere six years or so to become a hero. Dr. Ledbetter, executive vice president and chief scientific officer, Geisinger, had helped oversee the expansion of the health system’s MyCode precision medicine project, which began as a traditional research biobank in 2007.

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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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In genetics, stay open to the unexpected

July 2015—When Uta Francke, MD, received the Association for Molecular Pathology Award for Excellence in Molecular Diagnostics at the 2014 AMP meeting, she titled her lecture “Adventures in Disease Gene Identification and Characterization of Mutations.” Her title was appropriate for a research clinician who, during her 35-year career, while working on several major human genetic disease challenges, contributed in significant ways to our understanding of important genetic disease mechanisms and whose laboratory identified the gene for Wiskott-Aldrich syndrome.

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Genetic profiling vies with IHC in retune of CUP testing

March 2015—Tesla beats Camry. Online catalogs replace paper. Keurig edges out Chemex. Mobile trounces landline. When paradigms shift, the theory goes, we can only cling to the technology in the outbox for just so long. But that’s a theory that may not apply to diagnostic testing for cancer of unknown primary (CUP). Microarray-based gene expression profiling (GEP) has recently gained a foothold in the quest to identify origins and therapeutic targets for metastatic cancer, but traditional immunohistochemistry is not about to be sidelined.

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Medical genetics labs shine in 10-year proficiency test data

January 2015—Molecular genetics laboratories in the U.S. are doing a great job. Ten-year data from the molecular genetics Surveys in the CAP proficiency testing program show that U.S. clinical laboratories are making extremely accurate calls using molecular genetics assays. At the 2014 meeting of the Association for Molecular Pathology, Karen E. Weck, MD, and Iris Schrijver, MD, presented results from seven of the proficiency Surveys that the CAP/ACMG Biochemical and Molecular Genetics Resource Committee oversees. Dr. Weck is the chair of the committee; Dr. Schrijver is past chair.

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No surprises—one lab’s approach to costly genetic testing

September 2014—Medical practice is no stranger to good things coming from bad, but lest anyone be in doubt, Children’s Hospital and Medical Center in Omaha provides a striking example. The bad, in this case, was an exorbitant bill for genetic testing delivered several years ago to the parents of a sick child. The family had no idea such an expensive test had been ordered or that their insurance company would not pay for it.

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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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In encephalitis case, next-gen sequencing is the star

April 2014—In what may be a first for the burgeoning field of next-generation sequencing, this powerful new technology was used to identify the cause of encephalitis in a teenage boy who had been critically ill in the intensive care unit for several weeks. Diagnosis suggested a specific treatment. Within two weeks of initiating therapy, the boy had recovered and was discharged. It is becoming common practice to use NGS to detect mutations that can help select drug therapy in cancer cases and to find genetic variations responsible for inherited diseases. However, NGS has not previously been considered a useful tool in critical care situations, where a short turnaround time is crucial.

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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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