Challenges to the translation of genomic information into clinical practice and health policy: Utilization, preferences and economic value.

Abstract

It is important to understand how knowledge of genomics can be translated from research into clinical practice and health policies. This review examines existing evidence on three key factors in the adoption of personalized medicine: utilization, preferences, and economic value, using two cancer examples: HER2/neu antigen testing and trastuzumab (Herceptin) treatment and genetic testing for Lynch syndrome. Our findings highlight areas in which additional research is required to build an evidence base addressing utilization of, preferences for, and the potential costs and benefits of personalized medicine. Major challenges include a lack of linked data, the need for relevant research frameworks and methodologies, and the clinical complexities of genomic-based diagnostics and treatment.