Genomic Medicine: New Frontiers and New Challenges

Abstract

BACKGROUND The practice of personalized medicine has made large strides since the introduction of high-throughput technologies and the vast improvements in computational biotechnology. The personalized-medicine approach to cancer management holds promise for earlier disease detection, accurate prediction of prognosis, and better treatment options; however, the early experience with personalized medicine has revealed important concerns that need to be addressed before research findings can be translated to the bedside. CONTENT We discuss several emerging “practical” or “focused” applications of personalized medicine. Molecular testing can have an important positive impact on health and disease management in a number of ways, and the list of specific applications is evolving. This list includes improvements in risk assessment, disease prevention, identification of new disease-related mutations, accurate disease classification based on molecular signatures, selection of patients for enrollment in clinical trials, and development of new targeted therapies, especially for metastatic tumors that are refractory to treatment. Several challenges remain to be addressed before genomics information can be applied successfully in the routine clinical management of cancers. Further improvements and investigations are needed in data interpretation, extraction of actionable items, cost-effectiveness, how to account for patient heterogeneity and ethnic variation, and how to handle the risk of “incidental findings” in genetic testing. SUMMARY It is now clear that personalized medicine will not immediately provide a permanent solution for patient management and that further refinement in the applications of personalized medicine will be needed to address and focus on specific issues.