Translating genomics into improved healthcare

#### Summary points Since the work of Mendel,1 genetic research has been punctuated by key, shifting advances (box 1), which culminated in the first draft sequence of the human genome in 2001.2 3 4 Although most of the human genome sequence is shared by everyone, a small proportion varies between individuals. This variation, acting together with environmental factors, is thought to underlie differences in physiology, susceptibility to disease, and responses to drugs. We summarise the recent discoveries and review the implications of newly acquired knowledge for medical practice and public health. #### Sources and selection criteria Because of the wide remit of this article, we did not attempt a systematic search covering the whole of translational genetics. Instead, we used personal collections of major journal articles and reviews accumulated individually by all authors over several years of academic work in translational genetics. #### Box 1 Key early milestones in genetic research