The role of evidence-based medicine and clinical trials in rare genetic disorders

Abstract

The drive to empirically evaluate and analyze tools for the screening, diagnosis, management and monitoring of disease captured by the phrase 'evidence-based medicine (EBM)' has firmly entrenched itself as part of standard clinical care. However, rare genetic disorders, by their very nature, challenge the generation and application of EBM. This review presents many of the challenges encountered in applying EBM to rare genetic disorders, highlighting areas of recent emphasis in establishing multi-institutional collaborative research networks and in the systematic evaluation of developing therapies. Resources for identifying EBM tools for the practitioner are discussed, and the features and limitations of such resources are presented. Although the application of EBM to rare genetic disorders has definite limitations, a foundation has been established, and ongoing efforts seeking to systematically summarize and critically evaluate available evidence will continue to help identify the most effective tools for screening, diagnosis, management, and monitoring.