Clinical Cancer Genome and Precision Medicine

摘要

Revolutionary sequencing technologies have changed biomedical research and life science exponentially. Revealing the whole landscape of causal somatic and inherited mutations underlying individual patient’s cancer sample by whole-genome sequencing (WGS) and whole-exome sequencing (WES) can lead to not only a new mutations-based taxonomy of solid tumors (Stratton, Science 331:1553–1558, 2011). But also shapes a roadmap for precision medicine (Roychowdhury et al., Sci Transl Med 3:111ra121, 2011; Roukos, Expert Rev Mol Diagn 12:215–218, 2012; Mirnezami et al., N Engl J Med 366:489–491, 2012). This inevitable approach for personalized diagnostics in concert with free-falling genome sequencing costs raises now the question of applying next-generation sequencing (NGS) technology in the clinic. In the pragmatic clinical world and in contrast to innovative research, is NGS-based clinical evidence sufficient for decision-making on tailoring the best available treatment to the individual cancer patient?