Genomics and Personalised Medicine

The author is a professor of genetics at Stanford, and used his own gene sequence to predict and help diagnose a metabolic disorder in 2012. This book is a thorough primer to the whole area with subheadings consisting of questions. It covers the basics of the genome, cancer biology and treatment, the nature of complex genetic diseases, pharmaco-genomics, genomics for the healthy person and the advisability of prenatal testing, the importance of the microbiota and the immune system, as well as issues of information and ethics. It forecasts a world in which we will be able to use an app to obtain personalised recommendations about food and lifestyle. In this sense, the ultimate responsibility is seen to shift to the individual. However, the undercurrent of reasoning is still somewhat deterministic, for instance in the use of the term environment, and we now know from epigenetic studies that our lifestyle choices actually influence gene expression. In addition, it is not clear from the text that genetically transmitted diseases form a very small proportion of the whole. However, in the future we certainly will have a great deal more information about our predispositions and therefore have a sound basis for medically related decisions, although much lifestyle advice is in fact generalisable rather than personal.