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P E R S P E C T I V E
Cancer genomics: from discovery science to personalized medicine
2011 Nature America, Inc. All rights reserved.
Lynda Chin13, Jannik N Andersen1 & P Andrew Futreal4
Recent advances in genome technologies and the ensuing outpouring of genomic information related to cancer have accelerated the convergence of discovery science and clinical medicine. Successful examples of translating cancer genomics into therapeutics and diagnostics reinforce its potentialto make possible personalized cancer medicine. However,the bottlenecks along the path of converting a genome discovery into a tangible clinical endpoint are numerous and formidable. In this Perspective, we emphasize the importance of establishing the biological relevance of a cancer genomic discovery in realizing its clinical potential and discuss some of the major obstacles to moving from the bench to the bedside.
The main goals in cancer medicine center on prevention, detection and treatment. Central to these goals is the understanding of cancer as the cumulative phenotypic consequence of somatically acquired genetic, genomic and epigenetic alterations in cancer cells that are influenced by both heterotypic interactions with a unique tissue microenvironment and the host germline. Indeed, it is widely appreciated that the generation of comprehensive catalogs of the somatic alterations in cancer genomes coupled with detailed knowledge of the epigenetic and transcriptional states of these genomes will bring us a step closer to these goals, as such catalogs could inform strategies for effective prevention and early detection, as well as guiding the development of therapeutics in the appropriate patient subpopulation. Cancer genomics also holds great potential to inform the prognosis and guide evidence-based management of early stage diseases, which comprise an increasing proportion of cancer diagnoses. As our understanding of the cancer genome drives the transition from a morphology-based to a genetics-based taxonomy of cancer, point of care decisions will become increasingly customized to the unique genomic and proteomic features of a patients tumor. These molecular features may be assessed in tumor biopsies or circulating tumor cells or in body fluids (plasma, lymph and ascites) using companion diagnostics that can predict the likelihood of clinical benefit (or lack thereof) for all treatment options. Personalized medicine is no longer a fantasy but a maturing reality. That said, a number of key challenges, both scientific