On December 16, a set of joint guidelines developed by ASCO, the Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) on standardizing the interpretation and reporting of sequence variants in cancer was published online, ahead of the January print issue of The Journal of Molecular Diagnostics.1
The guidelines, titled “Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists,” contain recommendations for oncologists and clinical laboratory professionals for interpreting next-generation sequencing–based cancer tests and establishing standards for reporting somatic variants—mutations that occur (and were not inherited) in tumor cells. They were developed by a working group comprised of representatives of four professional organizations, whose members provide professional testing and treatment services to patients with cancer.
With the use of next-generation sequencing technologies on the rise, it has become clear that there is considerable variability in the interpretation and reporting of somatic gene variants by genomic testing laboratories. The guidelines are aimed at standardizing this process based on evidence from published literature; empirical data; current laboratory practice surveys; feedback from multiple public meetings; and the working group members’ professional experiences.
The guidelines recommend a four-tiered system to categorize somatic sequence variations by clinical significance in cancer diagnosis, prognosis, and/or therapeutics:
The goal is to provide a framework for standardized interpretation and reporting of somatic variants in cancer that will simplify interpretation of these often highly complex test results and facilitate their application in clinical practice. ■
1. Li MM, Datto M, Duncavage EJ, et al: Standards and guidelines for the interpretation and reporting of sequence variants in cancer. A joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn 19:4-23, 2017.
© 2017. American Society of Clinical Oncology. All rights reserved.