Yet 10 years after the first complete human genome sequence and the current revolution in the next-generation DNA sequencing technology, clinical applications in the prevention and treatment of major diseases such as cardiovascular disorders and cancer are limited.
As costs rapidly drop and quality of DNA sequence data is improved, with published two dozens of complete human genome sequence, 200 unpublished and thousands human and cancer genomes to be completed in the next few years, important insights into genetic and genomic variation underlying physiological and pathological cellular processes will emerge. In this era of “big” biology and science, when and how we will see clinical success? Genome leaders such as Collins and Venter emphasize that practical personalized medicine passes through mutations' catalogue completion and consideration of phenotype respectively.
This perspective article describes challenges in understanding genotype-phenotype map and the need for systems biology and medicine to predict complex interactions among biological and environmental systems. The next bigger challenge is how to discover those certain somatic “point“ mutations, genomic rearrangements and copy-number changes which after interactions each to other and with lifestyle factors drive pathogenesis, diseases risk and response to therapy. It is also here described how integration of genomic revolution data along with multiple clinical (phenotype) data in powerful computational and mathematical network modeling and strategies can lead to genomics medicine revolution.
(Citation: Gastric & Breast Cancer 2010; 9(3): 83-87)