Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact

Finite clinical genetics services combined with expanding genomic testing have driven development of mainstreaming models-of-care for genomic testing: specifically genetic counselor embedded (GEM) and upskilled-clinician (UPC) models. To determine feasibility, acceptability, and health economic impact in cancer mainstreaming settings we conducted a scoping review of the literature. A comprehensive PubMed search identified relevant manuscripts, published in English between 2013 and 2023. Of 156 identified articles, 37 proceeded to full review, encompassing five cancer types. In both models-of-care, testing uptake was > 90% and referral/testing rates increased 1.2-6.7-fold. Time from diagnosis to result disclosure decreased 1.5-6-fold and pathogenic variant detection rates were ≥ 10%. GEM model studies evaluated neither cost-effectiveness nor physician/patient outcomes. UPC models were economically viable, primarily through reducing genetics-related appointments. Physicians found the UPC model workload acceptable and reported improvements in knowledge and confidence. Patient distress in the UPC model was low overall and comparable to standard-of-care. Patients' acceptance and satisfaction/decisional satisfaction were high, and continuity-of-care was appreciated. Mainstreaming cancer genomic testing is feasible and beneficial to patients, physicians, and healthcare systems. More studies are needed to capture GEM model impacts and to compare GEM with UPC models. Further detail of allied health and nursing support for the UPC model is also required.