With the completion of an international effort to map human genes through Human Genome Project in 2003, the concept of personalized medicine has become feasible and appears to be the future of medicine. The successful completion of the Human Genome Project has given us the identity and mapping of approximately 20,000 to 25,000 genes from both a physical (genomics) and functional (proteonomics) standpoint.
The definition of personalized medicine is “systemic use of information about each individual patient to select or optimize the patient’s preventative and therapeutic care”. Personalized medicine involves the use of molecular analysis to better manage patients’ diseases or disease predisposition. These methods include testing for various genes, gene expression, proteins, and their metabolites. With rapid innovation in medicine, we will hear more about personalized medicine. In the past, medical care primarily centered on epidemiological studies on a large cohort of patients which do not take into account the tremendous genetic variability among individuals within the population. Traditionally, such an approach consisted of clinical diagnosis and management focused on an individual patient’s clinical signs and symptoms, medical and family history, and data from laboratory and imaging studies to diagnose and treat patient ailments. Personalized medicine looks at various diseases and their etiology, taking into account specific individual’s genetic profile.
Some of the examples of successful personalized medicine, which have become evidence based medicine in the fields of Pathology and Oncology, include HER2/neu mutations for breast cancer and EGFR protein analysis for lung and colorectal cancers. With the advent of future innovations, such applications will increase tremendously resulting in significant proliferation in the fields of pharmacogenetics, proteonomics, targeted therapy, predictive medicine, theranostics and translational research. Introduction and adoption of dynamic treatment regimes in personalized medicine raises a slew of concerns. These concerns include but are not limited to the cost of personalized medicine, access to molecular technology and genetic discrimination. Collaboration between the pharmaceutical industry, diagnostic industry, insurers, physicians, governmental agencies, and patients will be needed to arrive at an optimal use of personalized medicine. Such an effort will benefit not only individual patients but also the entire society and humanity in general.