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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‘Genetic Testing Handbook’ Provides Physicians, Pathologists, and Clinical Lab Managers with Comprehensive Reference for Clinical Genome and Exome Sequencing

This new tool offers clinicians the dos and don’ts of genetic testing, what physicians need to know to do it properly 

Clinical use of gene sequencing information has advanced to the point where a team of genetic experts has compiled and issued the Genetic Testing Handbook. The goal of the clinical genome and exome sequencing (CGES) handbook is to provide clinicians—including pathologists and clinical laboratory scientists—with a useful reference tool.

The authors of the Genetic Testing Handbook are Leslie G. Biesecker, M.D., of the National Human Genome Research Institute (NHGRI) in Bethesda, Maryland, and Robert C. Green, M.D., M.P.H., a geneticist who is an Associate Professor of Medicine at Harvard Medical School.

Primer Distills Human Genome Project Technologies for Practical Use

“The technologies that were used for the Human Genome Project are now distilled down to practical tools that clinicians can use to diagnose and, hopefully, treat diseases in patients that they couldn’t treat before,” stated Biesecker, who serves as Chief and Senior Investigator at the NHGRI’s Medical Genomics and Metabolic Genetics Branch, in a press release issued by the National Institutes of Health (NIH). (more…)

Scientists at University of Washington Discover a Second Language in DNA, Possibly Giving Pathologists a New Source of Diagnostic Information

The discovery of dual-purpose condons, called ‘duons’ opens the door to creation of more precise diagnostic and medical laboratory tests, as well as better treatment choices

New insights into the human genome have led to the discovery of a second “code” or “language” within human DNA. Pathologists performing genetic testing will be particularly interested in the implications of this discovery, which the researchers have dubbed “duons.”

It was a research team at the University of Washington (UW) that discovered evidence of a second type of DNA code overlying the protein code that controls transcription factors (TFs). TFs regulate flow of genetic information from DNA to messenger RNA, which manages the synthesis of proteins described by the DNA. (more…)

ENCODE Project Reveals 4 Million Critical Gene Switches in “Junk” DNA of Humans

Pathologists and clinical laboratory managers may see an explosion of new diagnostic tests in the wake of ENCODE’s discoveries

You know it’s big news when multiple scientific journals publish numerous papers on the same day, covering the same genetic research topic. That is why pathologists and clinical laboratory professionals will want to learn more about “ENCODE,” the global research initiative that is the source of almost 40 published papers during recent weeks.

Of equal importance, this is basic science that is unlocking knowledge of human DNA that is expected to drive an entire new field of medical diagnostics. In turn, the host of new medical laboratory tests based on ENCODE’s new scientific findings will create additional opportunities for the nation’s clinical laboratories to deliver more value to physicians and patients. (more…)

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