The journey to personalized medicine.

Abstract

During the Renaissance, the realization that the sun, and not the earth, was the center of our solar system helped lead to a re-evaluation of man’s role in the universe. The engraving in Figure 1 has been interpreted by some as representing a medieval astronomer breaking through the prevailing earth-centric-bound thinking in order to peer at the workings of the Ptolemaic universe beyond. While this re-evaluation moved man from an inaccurate, but perhaps more comfortable, belief that the world revolved around the earth to understanding that man and the earth were far less significant, the discovery also stimulated a hope that a better understanding of science would improve the human condition. Moving into the 21st century, the completion of the Human Genome Project has ushered in a similarly hopeful feeling that advances in genomics will rearrange our view of medicine and health in a way equally profound as that experienced during the Renaissance. In the last century, the science of medicine has made great strides in reducing human suffering, developing a wide armamentarium of antibiotics and medications for acute and chronic infections and diseases, and vaccines that helped eradicate a major disease (smallpox) and reduced the toll of many others (such as polio and measles). However, while these advances helped highlight the importance of a scientific approach to human disease, the end of the century also brought substantial concerns over the future and the feasibility of the continued advancement of medical science. Antibiotic resistance became particularly worrisome, accorded in large part to the widespread and perhaps indiscriminate use of antibiotics. A number of highly touted drugs (including the cyclooxygenase-2 [COX-2] inhibitors and the 5-hydroxytryptamine 3 [5-HT3] receptor antagonists) were brought to market and warmly embraced by a public looking for relief from painful and debilitating illnesses, only to be withdrawn due to concerns over their safety profile. Similarly, the rhesus rotavirus vaccine had been under development for over 10 years and shown to be effective against rotavirus, a diarrheal disease that kills close to 1 million children each year worldwide. Shortly after introduction, however, the vaccine was withdrawn from the US market because of concerns over its association with intussusception, a form of bowel obstruction in young children.