Economic and Cost-Effectiveness Considerations for Pharmacogenetics Tests: An Integral Part of Translational Research and Innovation Uptake in Personalized Medicine

Across the translational research continuum from biomarker discovery to public health research, “costeffectiveness” considerations are crucial, and can significantly impact the adoption of personalized medicine innovations. Cost-effectiveness is concerned with providing evidence to compare the (economic) costs and the health outcomes of competing health interventions or technologies. This also affects translational research in all stages, including clinical trials, post-market monitoring and population health outcome assessment. Indeed, economic considerations are important in determining the development and diffusion of a new technology in any scientific field. This is particularly true in healthrelated sectors, wherein governments and regulatory agencies with a mandate and commitment to efficient and rational allocation of resources require transparent and rigorous economic evidence to support or decline the adoption of a new technology. In the context of personalized medicine and theragnostics (i.e., the fusion of therapeutics and diagnostics), the use of genomics in clinical practice can be markedly facilitated by tandem evaluation of the clinical benefits/risks of customized health interventions and their cost-effectiveness. This paper provides a synthesis of the past and emerging literature on cost-effectiveness studies that evaluate pharmacogenetics tests. We conclude that despite the recent efforts, there is still a scarcity of convincing evidence on the cost-effectiveness of genomics products that creates a barrier in the uptake of pharmacogenetics in personalized medicine. Additionally, the reasons that limit a wider development of the cost-effectiveness analyses in this field are discussed, with a view to amend the above translational gaps in the literature.