More Clinical Laboratories and Genetic Testing Companies Are Sharing Gene Sequencing Data That Involve Variations

The National Institute of Health’s ClinVar public database of genetic variation is demonstrating good accuracy, and a handful of clinical labs are learning to share and review this relatively small genetic database In the analysis of genomic variants, data sharing is proving to be an important tool for researchers, scientists, pathologists, and clinical laboratory scientists. Accessible databases like ClinVar, which was launched by the National Institute of Health (NIH) in 2013, have emerged...

New England Journal of Medicine Publishes Study Where Researchers Call Attention to Lack of Knowledge about Some Genes Included in Gene Panel Tests for Inherited Cancers

Researchers are concerned about the lesser-known genes included in the test and also point out that little published research exists to support use of these genes for clinical laboratory testing Gene-panel tests for inherited cancers were scrutinized by a group of 17 prominent international genetic researchers in a study published by the New England Journal of Medicine (NEJM) this summer titled “Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk.” These experts pointed out that,...

Researchers at Columbia University Report How Exome Sequencing Helped Diagnose Patients with Unknown Disorders

More precise diagnoses will encourage pathologists and clinical laboratory professionals to consider using exome sequencing for clinical diagnostic purposes Having sequenced the exomes of 150 patients to diagnose unknown disorders over the past year, physicians at Columbia University (CU) used that information to make decisive diagnoses in one-third of the cases. It is evidence from one of the nation’s pioneering gene-sequencing programs that such data can improve how physicians identify...

Supreme Court Strikes down Myriad Gene Patents in Unanimous Vote; Decision Is Expected to Benefit Clinical Pathology Laboratories

Pathologists and clinical laboratory managers can expect to see an expansion of genetic testing in the wake of the Supreme Court’s decision in the Myriad case Pathologists and clinical laboratory professionals got a major victory on June 13. That’s when the United States Supreme Court (SCOTUS) ruled 9-0 to end the 30-year-old practice of awarding patents on human genes. The unanimous decision invalidates certain hotly contested patents held by Myriad Genetics, Inc., (NASDAQ: MYGN) on the BRCA1...
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