Background: Early detection of melanoma is key, as survival rates are substantially better when the cancer is detected in its early stages. Currently, the standard of care is to biopsy any lesion suspected of melanoma for diagnostic confirmation by histopathology. As a result, most people who undergo biopsy receive negative melanoma results. If effective, a non-invasive alternative, such as pigmented lesion assay, could minimize the number of unnecessary biopsies performed. We conducted a health technology assessment of pigmented lesion assay for people with suspected melanoma lesions, which included an evaluation of diagnostic accuracy, clinical utility, the budget impact of publicly funding pigmented lesion assay, and the preferences and values of people who have undergone biopsy for suspected melanoma.

Methods: We performed a systematic literature search of the clinical evidence. We assessed the risk of bias of each included study using the Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) and the Risk of Bias Assessment Tool for Non-randomized Studies (RoBANS). We assessed the quality of the body of evidence according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) Working Group criteria. We performed a systematic literature search of the economic evidence. We also analyzed the budget impact of publicly funding pigmented lesion assay in adults with suspected melanoma in Ontario. To contextualize the potential value of pigmented lesion assay, we spoke with people who had undergone skin biopsy for melanoma. We also used the qualitative research synthesis from a report by the Canadian Agency for Drugs and Technologies in Health to provide context for the preferences and values of those with suspected melanoma.

Results: We included seven studies in the clinical evidence review. Pigmented lesion assay has a sensitivity of 79% (95% confidence interval [CI] 58%-93%) and a specificity of 80% (95% CI 73%-85%; GRADE: Low). We found one published cost-effectiveness study with potentially serious limitations. Therefore, the cost-effectiveness of pigmented lesion assay compared with the standard care pathway is currently uncertain. Assuming a very low uptake, we estimated that the budget impact of publicly funding pigmented lesion assay in Ontario over the next 5 years is about $3.44 million if the test is used exclusively by primary care providers, or about $2.56 million if it is used exclusively by specialists. The people with whom we spoke who had experienced biopsy for suspected melanoma responded positively to the potential benefits of pigmented lesion assay, emphasizing its ease-of-use, potential increase in early detection of melanoma, and reduction in physical and emotional burden of unnecessary biopsies. Participants also felt that the accuracy of this tool was essential to ensure minimal false negatives.

Conclusions: There is uncertainty because of the low-quality evidence for the diagnostic accuracy of pigmented lesion assay. The cost-effectiveness of pigmented lesion assay compared with standard care is also uncertain. We estimated that publicly funding pigmented lesion assay in Ontario over the next 5 years would result in additional costs of $3.44 million (if used exclusively by primary care providers) or $2.56 million (if used exclusively by specialists). For people who had experienced biopsy for suspected melanoma, it was felt that pigmented lesion assay could represent an effective tool to increase early detection and avoid unnecessary biopsies, if the tool was accurate.