Patients’ and Oncologists’ Knowledge and Expectations Regarding Tumor Multigene Next-Generation Sequencing: A Narrative Review

Abstract

Abstract Background Tumor multigene next-generation sequencing (NGS) is increasingly being offered to cancer patients to guide clinical management and determine eligibility for clinical trials. We undertook a review of studies examining the knowledge and attitudes of patients and oncologists regarding the primary results and potential secondary findings of such testing. Materials and Methods A search was conducted through the MEDLINE database using the following keywords: “neoplasms” and “molecular sequencing / genome sequencing / tumor profiling / NGS / whole exome sequencing” and “patient / oncologist” and “knowledge / attitudes / satisfaction / experience / evaluation / perspective / practice / preference.” Articles meeting the inclusion criteria and additional relevant articles from their references were selected. Results From 1,142 publications identified by the search and 9 from references, 21 publications were included in the final review. Patients generally had positive attitudes toward tumor NGS despite relatively little knowledge of test-related genetics concepts, but their expectations often exceeded the reality of low clinical utility. Patients with higher education and greater genetics knowledge had more realistic expectations and a more altruistic view of the role of NGS. Attitudes toward disclosure of secondary findings were highly variable. Oncologists had poor to moderate genomic literacy; they communicated challenges with tempering patient expectations and deciding what information to disclose. Conclusion Patients considering undergoing tumor NGS should be provided with easily understandable resources explaining the procedure, goals, and probable outcomes, whenever possible based on evidence-based guidelines. Continuing medical education programs on this topic for oncology health care professionals should strive to improve their genomic literacy and instruct them on how to optimally present this information to their patients. Implications for Practice Oncologists are increasingly offering tumor multigene testing to patients with advanced cancers to guide more “personalized” treatment and/or determine eligibility for clinical trials. However, patients often have inadequate understanding and unrealistic expectations. Oncologists must ensure that they themselves have sufficient knowledge of the benefits and limitations of testing and must provide their patients with appropriate educational resources. Prior to testing, patients should be told the likelihood of finding a mutation in their specific tumor type for which a targeted treatment or clinical trial is available. Patients also need clear information about the possibility and implications of secondary findings.