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…)

NIH Plans To Create New Genetics Testing Registry of Molecular Diagnostics Tests Offered by Clinical Pathology Laboratories

Comprehensive genetic test database intended for use by pathologists, physicians, researchers and consumers


Pathologists and clinical laboratory managers will soon have a comprehensive registry of genetic tests that they can consult as needed. The National Institutes of Health (NIH) is creating a single public registry with detailed information about both genetic test providers and the 1,600+ genetic tests these providers offer.

The NIH believes the genetic test registry will bring greater transparency to the field. It hopes that the registry creates increased information-sharing about the different genetic tests which are available. Participation in the registry will be voluntary, though groups such as the Genetic Alliance have called for making it mandatory to help weed out what they call “the bad actors” in the industry.

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