Adopting Consensus Terms for Testing in Precision Medicine

Abstract

PURPOSE Despite the well-understood benefits of biomarker and genetic testing in precision medicine, uptake remains low, particularly for patients with low socioeconomic status and minority ethnic backgrounds. Patients report having limited familiarity with testing terminology and may not be able to accurately explain testing's role in treatment decisions. Patient confusion and lack of understanding is exacerbated by a multiplicity of overlapping terms used in communicating about testing. A LUNGevity Foundation-led working group composed of five professional societies, 23 patient advocacy groups, and 19 industry members assessed and recommended specific terms for communicating with patients on testing for tumor characteristics and germline mutations. METHODS Members completed a precision oncology testing framework analysis (biomarkers, germline variants, testing modalities, biospecimen, and commonly used testing terms) for nine solid tumors and blood cancers. The evaluation was segmented into terms that distinguish between somatic and germline testing. Additional data were captured in a comprehensive survey (1,650 respondents) led by FORCE (Facing Our Risk of Cancer Empowered) on patient preferences on germline testing terms. RESULTS Thirty-three terms were noted in patient education related to biomarker, genetic, and genomic testing. Biomarker testing was selected as the preferred term for testing for somatic (acquired) alterations and other biomarkers. Genetic testing for an inherited mutation and genetic testing for inherited cancer risk were selected as the preferred terms for testing for germline variants. CONCLUSION Democratizing comprehension about precision oncology testing through intentional use of plain language and common umbrella terminology by oncology health care providers and others in the oncology ecosystem may help improve understanding and communication, and facilitate shared decision making about the role of appropriate testing in treatment decisions and other aspects of oncology care. Licensed under the Creative Commons Attribution 4.0 License Precision medicine has transformed the practice of oncology, offering opportunities for significantly improved outcomes in an array of solid and hematologic malignancies. Indeed, professional guidelines routinely recommend the application of genomic and laboratory techniques in oncology to both direct treatment and elucidate inherited cancer risks. However, many eligible patients are not benefiting from advances in precision medicine because of low rates in both biomarker testing for tumor-specific therapies and genetic testing for inherited mutations that indicate increased cancer risk. In lung cancer, for example, a study of 5,688 patients with non-small-cell lung cancer from 2011 to 2016 demonstrated that 15.4% received broad-based genomic sequencing and 84.6% received single gene testing for EGFR and/ or ALK. 1 A more recent study evaluating testing rates showed that only 7% of patients receiving care in community oncology settings received the recommended testing for all seven biomarkers specified in the active clinical guidelines. 2 Likewise, in patients with gastrointestinal stromal tumor, recent data indicate that fewer than 27% received recommended tumor testing for KIT mutations, 3 and only 40% of patients with colorectal cancer received recommended testing for known actionable mutations. 4 Testing according to current guidelines remains below 50% for most populations recommended for inherited cancer risk testing. This includes subgroups of patients with breast cancer, and patients with ovarian, pancreatic, and metastatic prostate cancer. 5 There are multiple likely reasons for this pervasive undertesting, including limited availability of adequate samples, lack of provider knowledge or support (in-cluding testing and counseling resources), geographic factors, racial disparities, socioeconomic factors, limited