New Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
December 21, 2016
Marilyn M. Li, MD, Professor of Clinical Pathology and Laboratory Medicine, Vice Chief of the Division of Genomic Diagnostics and Director of Cancer Genomic Diagnostics at Children's Hospital of Philadelphia, chaired a working group tasked to set new standards and guidelines for the interpretation and reporting of sequence variants in cancer. The multidisciplinary group, convened by the Association for Molecular Pathology with liaison representation from the American College of Medical Genetics and Genomics, American Society of Clinical Oncology, and College of American Pathologists, was tasked to assess the current status of next-generation sequencing–based cancer testing and establish standardized consensus classification, annotation, interpretation, and reporting conventions for somatic sequence variants. The joint consensus recommendations are intended to improve genomic testing and precision care for cancer patients and propose a four-tiered system for classifying somatic sequence variants, based on their clinical significance for diagnosis, prognosis, and therapy. The recommendations were published in the January 2017 issues of the Journal of Molecular Diagnostics.
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