Group calls for consistency with genetic cancer terms

July 13, 2020

Research shows that despite widespread acceptance of the importance of testing, actual testing rates lag far behind best-practice recommendations for both biomarker testing for somatic (acquired) mutations and other biomarkers, and for germline genetic testing for identifying germline (inherited) mutations (also known as variants).

Analysis by the Consistent Testing Terminology Working Group indicates that varied testing terms are an obstacle to patient communication with providers about testing for their specific cancer type. The pan-cancer working group identified at least 33 terms related to biomarker, genetic, and genomic testing for cancer being used in patient education.

This varied terminology is one patient-identified reason for confusion about testing, which impedes effective communication with providers and understanding about what testing means for their care. To best serve the needs of cancer patients, it is time to harmonize language, simplify communications, and clearly explain the goals of testing. Recommended terms identified include the following:

·        “Biomarker testing” to discuss tests that identify characteristics, targetable findings, or other test results originating from malignant tissue or blood.

·         “Genetic testing for an inherited mutation” and “genetic testing for inherited cancer risk” for tests to identify germline mutations (also known as variants in the genetics community).

The Consistent Testing Terminology Working Group has published a white paper with industry-wide recommendations for precision medicine testing terms to be utilized in patient education and communication. An abstract on the Working Group’s recommendations was first published in May 2020 as part of the American Society of Clinical Oncology (ASCO) Annual Meeting Virtual Library (

Visit the Consistent Testing Terminology Working Group for more news