Paper
Genetics and genomics in the practice of medicine.
Published May 1, 2008 · V. Joshi, R. Kucherlapati
Gastroenterology
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Abstract
The completion of the human genome sequence, and the understanding of the genes encoded by it, is resulting in a new era in medicine. It is now recognized that human beings are more similar than they are different, and the extent of heritable human genetic variation is currently being cataloged. In addition, cells or tissues may acquire genetic and genomic changes during pathogenic processes such as cancer. These differences play important roles in both susceptibility to disease and the response of an individual to particular drugs or therapeutic regimens. The ability to use individual genetic profiles to predict, prevent, and prognosticate disease, as well as identify effective therapies with little or no adverse reactions, is termed “personalized medicine.” We believe that personalized medicine has the potential to transform the practice of medicine and have a significant impact on the health of the entire population. Some would argue that medicine has always been personalized. Physicians observe a patient’s clinical features, make an educated guess as to the cause with the assistance of various diagnostic tools, and treat those features according to best practice. Personalized medicine stands to be improved greatly through the incorporation of genetics and genomics. Genetic markers of disease are often definitively diagnostic and are often present before the onset of clinical symptoms. With genetic information in hand, treatment might be made more effective through earlier initiation, optimal therapy can be determined through a precise understanding of the disease molecular pathogenesis, or onset might be prevented altogether.
Personalized medicine, using genetic and genomic information, can potentially transform the practice of medicine and significantly impact the health of the entire population.
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