Genomics and the Reimagining of Personalised Medicine

Sir William Osler, the Canadian-born Regius Professor of Medicine at Oxford a hundred years ago famously said that it was more important to know what kind of patient had the disease than what kind of disease the patient had. This remark highlights one of the main themes of this highly informative book, that between specificity and universality in the relationship between patients and disease. It places the debate within the historical development of medicine and the tension between the art and the science. There is an interesting discussion of holism in the 1930s (although no mention of the Peckham experiment) and subsequent claims that health and illness include psychosocial factors as well as biological ones. Overall, diagnosis has shifted towards risk biomarkers and away from clinical observation. The new narrative of personalisation in genomics includes customisation based on genetic risk factors as well as the potential empowerment of people to make better decisions about their health. This is all treated in terms of medical interventions with no mention of lifestyle, which is surely the ultimate empowering decision that an individual can make. In addition, only around 5% of diseases are strictly genetic, and many genes are activated epigenetically by lifestyle and environmental factors.

After an initial historical chapter, the author moves on to the way that pharmacological individuality has evolved into personalised medicine, which has then been marketed by the industry with considerable promissory hype. One example might be vaccination against cervical cancer, which has now become a highly profitable treatment, a case of what the author calls mass customisation – marketed at least in part by the generation of fear. The model put forward by Francis Collins is the empowerment one I referred to above, which is meant to lead to improved health and lowering of health costs. Again, there is only an implicit reference to lifestyle by way of prevention. This approach also encourages a multiplicity of expensive tests. Overall, this new personalised medicine is still informed by a mechanistic approach focusing primarily on molecular biology, which provides its research base. The author himself advocates a wider view including the social and economic dimensions.