Personalized medicine 2014: has healthcare been transformed?

Abstract

Science & transformations in medicine The complete sequencing of the human genome in 2003 was predicted to make medicine proactive and personalized. Since then, genomic technologies have made impressive technical advances, created important diagnostic tools, facilitated targeted therapies, and provided an understanding of the genetic complexity of common diseases. Nonetheless, the transformation of medical practice is just beginning to occur. Now a decade after the sequencing of the human genome, it’s appropriate to look back and evaluate the impact genomics has played in enabling personalized health care and anticipate what we can expect going forward. The role for a physician in society can be traced to earliest history, but it was not until the early 1900s that the sciences of pathology, physiology, chemistry, physics and microbiology enabled a major transformation in medicine from its basis on mysticism to a basis on science and the pathophysiology of disease. Since then, western medicine has become increasingly driven by scientific advances. The elucidation of the structure of DNA by Watson and Crick in 1953 provided the foundation for a broad understanding of life and disease [1]. Their discovery was followed by research providing ever more detailed comprehension of genetics at a mechanistic level. By the turn of the 21st century, scientific and technological advances made it clear that the human genome would soon be sequenced. This, along with the emergence of proteomics, metabolomics, advances in bioinformatics and so on, provided a new medical capability: prediction – the ability to quantify disease risks and to detect disease development before damage occurred. Thus, by the time of the complete sequencing of the human genome in 2003, a second transformation of healthcare was being anticipated. Rather than responding to disease events, care could be proactive, predictive and personalized. Indeed, in 2000, President Clinton predicted that decoding the human genome would lead to new ways to prevent, diagnose and cure disease [2]. In my Chairman’s address to the Association of American Medical Colleges in 2002, I detailed the concept of ‘prospective medicine’, a new proactive, personalized model of healthcare delivery. I proposed that predictive technologies could help lead to the “next transformation in healthcare,” from being reactive to disease to being proactive, personalized and preventative [3]. This transformation could have a profound impact on enhancing health and curtailing the epidemic of preventable chronic diseases [3,4]. Now, approximately 10 years after the complete sequencing of the human genome, it’s appropriate to evaluate its impact on medicine [5].