The consensus statement, “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,” contains recommendations for oncologists and clinical laboratory professionals for interpreting next-generation sequencing (NGS)-based cancer tests and establishing standards for reporting somatic variants—those 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 NGS 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 consensus statement is 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 consensus statement recommends a four-tiered system to categorize somatic sequence variations by clinical significance in cancer diagnosis, prognosis, and/or therapeutics:
- Tier 1: Variants with strong clinical significance
- Tier 2: Variants with potential clinical significance
- Tier 3: Variants of unknown clinical significance
- Tier 4: Variants deemed benign or likely benign
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.
