Recent genomic discoveries have brought about far-reaching advances in understanding the molecular basis of human health and disease. The vision for the future of genomics research developed by the National Human Genome Research Institute suggests more discoveries are likely to occur over the next few decades.1 These insights have helped reveal remarkable and unexpected complexities of human biology; however, this scientific reality has slowed the immediate translation of genomic discoveries to health benefits. Nevertheless, the early implementation of genomic medicine has brought clinically important advances that rival any other period of discovery in the history of Western medicine.2 For example, in 1990 the genetic and molecular basis was understood for fewer than 2% of the estimated 7000 suspected mendelian conditions; in 2011, approximately 40% of mendelian conditions have a known molecular basis.
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