Genetics and genomics: the scientific drivers of personalized medicine

Abstract

Scientific advances in genetics and genomics will be incorporated into health care soon. The tailoring of treatment to an individual's genetic make up has been termed personalized medicine. These advances are promising and are receiving significant attention; however, many nurses are caught in the gap between technologic advances and clinical diffusion and uptake. Aiming to reduce this gap, this chapter provides an overview of the science driving personalized medicine, outlines areas of research and clinical translation where nurses may expect to see its fruits, and briefly identifies obstacles preventing its full realization. Four scientific elements of personalized medicine are described: (1) discovery of novel biology that guides clinical translation mechanisms, (2) genetic risk assessment, (3) molecular diagnostic technology, and (4) pharmacogenetics and pharmacogenomics. Successful design and implementation of Personalized Medicine will hinge on the roles of nurses conducting or participating in collaborative initiatives that are furthering genetic/genomic applications within these contexts.