The Consistent Testing Terminology Working Group, which consists of a consortium of patient advocacy groups, professional societies, and industry partners, selected plain language terminology that can be used when communicating with cancer patients about genetic testing.1

“When someone is diagnosed with cancer, they’re swept into a whirlwind of bewildering words and complex, pressing decisions,” said Nikki Martin, director of Precision Medicine Initiatives at LUNGevity Foundation, in a press release statement.2 LUNGevity Foundation is a patient advocacy group that is part of the Consistent Testing Terminology Working Group.

“Our Working Group’s goal is to help calm that storm of confusion with clear and consistent language that facilitates communication and medical decision making,” she continued.2

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As described in a recent white paper, the Consistent Testing Terminology Working Group identified 33 terms that were being used in patient education and clinical care to communicate testing for germline mutations, somatic mutations, and other biomarkers. From those 33 terms, the group distilled 2 umbrella terms and recommended consistent use of those.1

To communicate testing a biospecimen for somatic mutations or other biomarkers, the group recommended “biomarker testing” as the umbrella term.1

The rationale behind selecting this term was group members felt that it had the “broadest applicability” to all types of cancer and various testing modalities. Also, this term was the most commonly used term by patient advocacy groups, professional societies, and industry. Other terms that were considered but ultimately were ruled out included “tumor profiling,” “molecular testing,” and “comprehensive biomarker testing.”1

To communicate testing for germline mutations, the group recommended “genetic testing for an inherited mutation” or “genetic testing for inherited cancer risk” as the umbrella term.  The term “germline” was avoided because “most lay people are unfamiliar with its meaning and may be put off by the potential relation to ‘germs.’”1

Moving forward, working group members have said they have committed to adopting these umbrella terms within their own communications and will provide “additional tumor or constituency-specific information as needed.”1


  1. Consistent Testing Terminology Working Group. A white paper for the need for consistent terms for testing in precision medicine. Published 2020. Accessed July 15, 2020.
  2. LUNGevity Foundation. Pan-cancer consortium moves to clarify and promote consistent use of common terms for biomarker and germline genetic testing [news release]. Washington, D.C. Published July 7, 2020. Accessed July 14, 2020.