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

Tag Archives: Genetics/genetic testing (see also Next-generation sequencing) —

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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