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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To Help Physicians and Patients, Medical Laboratories with BRCA Breast Cancer Tests Are Posting Mutation Data into ClinVar’s BRCA Database

Innovative use of crowdsourcing allows pathologists and genetic scientists to create a sizeable database of BRCA mutations that is accessible to clinicians and patients

There’s a new development in the longstanding battle over proprietary healthcare data versus public sharing of such information. Pathologists and clinical laboratory managers will be interested to learn that, when it comes to genetic testing of the BRCA mutation involved in breast cancer, a public data base of mutations is growing so rapidly that it may become the world’s largest repository of such information.

It was last year when the Supreme Court ruled in the gene patent case of Association of Molecular Pathology versus Myriad Genetics that human genes were not patentable. Following that decision, some financial analysts stated that Myriad Genetics, Inc. (NASDAQ:MYGN) retained a competitive advantage over other medical laboratories due to its huge database of mutations in the BRCA genes. (See Dark Daily, “Supreme Court Strikes down Myriad Gene Patents in Unanimous Vote; Decision Is Expected to Benefit Clinical Pathology Laboratories,”  July 1, 2013.) (more…)

Pathologists Could Have DNA Sequencing Device That Connects to a Smartphone and Can Produce Immediate Results from Several Types of Medical Laboratory Samples

At the proposed $1,000 price tag, Biomeme’ mobile clinical laboratory device has the potential to challenge diagnostic systems used in central laboratories

Another smartphone gadget capable of performing diagnostic laboratory tests is headed for the marketplace, and only time will tell if it proves to be a threat to the in vitro diagnostics industry.

Developers say that, when paired with a smartphone, this diagnostic device is similar to traditional medical laboratory technology 10 times its size. Called Biomeme, it is a system that  diagnoses diseases like a clinical laboratory—but is just the size of a can of cola. It can identify DNA signatures of bacteria or viruses in a sample of saliva, blood or urine, according to a story that appeared in the Philadelphia Inquirer. (more…)

New Study of Fruit Fly Genome Reveals Complexity of RNA and Provides a Model for Studying Mechanisms for Hereditary Diseases in Humans

This investigation of the fruit fly’s transcriptome—the complete collection of the genome’s RNA—unearthed thousands of new genes, transcripts, and proteins

Scientists have teased another level of information out of the genome. This time, the new insights were developed from studies of the fruit fly’s transcriptome. This knowledge will give pathologists another channel of information that may be useful in developing assays to support more precise diagnosis and therapeutic decisions.

The findings were published in a recent issue of Nature. The study focused on the transcriptome—a complete collection of the genome’s RNA—of the common fruit fly−Drosophila melangogaster. (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…)

Pathologists in Canada Address Handling and Use of Tissue Specimens for Clinical Diagnostic Purposes at IQMH Conference in Toronto

Variability in how tissue is handled from one histopathology laboratory to another greatly affects quality of specimen and accuracy of the pathologist’s diagnosis

TORONTO, ONTARIO, CANADA—Here on the shores of Lake Ontario, pathologists and clinical laboratory professionals gathered last week for a unique conference that focused on quality issues involving how tissue is handled from collection and transport to the histopathology laboratory processing to diagnosis by surgical pathologists.

Your Dark Daily editor was here to participate in the conference and learn from a first-rank panel of speakers. As many long-time readers know, patients, physicians, and health insurers expect increasingly higher levels of accuracy in how lab specimens are handled and greater precision in the resulting diagnosis that is produced by pathologists. Thus, a conference dedicated to tissue specimen integrity and quality is both timely and appropriate. (more…)

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