It has been suggested that health economists need to adapt their methods in order to meet the challenges of evaluating molecular diagnostics. The aim of this review is to categorize and critically examine the challenges and methodological developments identified from the literature and to suggest how such challenges may be addressed.

We identified challenges and suggested methodological improvements using a systematic rapid review of the literature. We categorized challenges into those common to all economic evaluations, those common to all diagnostic technologies and those relevant to molecular diagnostics. We assessed whether development in the methods of economic evaluation or alternative action was required.

We found forty-one papers which identified twelve challenges. Choice of perspective and time-horizon were challenges common to all economic evaluations. Five challenges were relevant for all diagnostic technologies: complexity of analysis; range of costs; under-developed evidence base; behavioral aspects; and choice of outcome metrics. The final five challenges were specific to molecular diagnostics: heterogeneity of tests and platforms; increasing stratification; capturing personal utility; incidental findings and spill-over effects. The final five challenges may require methodological development. For example, although methods exist to capture the value of a diagnostic test over and above any health gain captured in a quality adjusted life year (‘personal utility’), there is currently no agreed method of incorporating this into a cost-utility analysis. For the other challenges development of evaluation processes is key. In particular, the weak evidence base for diagnostic technologies may require processes to evolve.

Current methods of economic evaluation are generally able to cope with molecular diagnostics although a renewed focus on specific decision-makers’ needs and a willingness to move away from cost-utility analysis may be required. A key issue is the under-developed evidence-base and it may be necessary to rethink translation processes to ensure sufficient, relevant evidence is available to support economic evaluation and adoption of molecular diagnostics.