Natural language processing to develop a standardized lexicon for precision medicine in oncology.

Abstract

Precision medicine terminology is increasingly used across clinical, laboratory, payer, regulatory, and policy settings; however, distinct terminology may be applied interchangeably or inconsistently across stakeholders, and foundational concepts may not be uniformly understood across multidisciplinary audiences with varying levels of expertise. This misalignment may create confusion for stakeholders as they attempt to navigate guideline recommendations and payer coverage policies, potentially impacting patient access to testing and treatment. In 2025, AMCP held a 2-day partnership forum on the topic of advancing precision medicine in oncology. Forum participants recommended development of a consolidated lexicon of commonly used precision medicine terms to support clearer communication and foundational understanding across stakeholders and to clarify distinctions between related concepts. Nineteen definitions were ultimately generated using a natural language processing process, an artificial intelligence approach used to extract information and derive meaning from large text samples. A comprehensive literature review was first conducted to develop an index of publicly available precision medicine terminology sources. Natural language processing-based textual analysis was then used to systematically evaluate terminology usage patterns across the index, including both consistent and inconsistent usage of terms across sources. Draft definitions generated through this process were subsequently reviewed and refined by forum participants. The resulting lexicon included relevant terms related to (1) foundational concepts in precision medicine; (2) biological foundations and molecular variation; (3) biomarker and molecular testing; (4) testing technologies, specimen collection, and regulatory classification; and (5) testing approach. The objective of this work was to organize commonly used precision medicine terms into a single reference framework, a foundational precision medicine reference for managed care stakeholders, and to clarify distinctions between related concepts where appropriate.