Today, patient
genotyping is central to the success of personalized medicine.
for avoiding hospitalization, and that there is a clear association with genotype, drug choice, and these outcomes. Another panel examines several key
genes involved in estrogen metabolism as a breast cancer prevention tool for physi- cians and consumers. This panel gauges the risk of developing breast cancer from exogenous estrogen in women who may be taking, or considering taking, hor- mone replacement therapy, or attempting in vitro fertilization, etc. The intent is to lessen the complexity of relieving a patient’s menopausal or peri-menopausal symptoms and improving fertility, while avoiding risk of adverse side effects and decreasing cancer risk by dosing ac- cording to their estrogen metabolism function. The panel looks at several estrogen metabolizing genes, in which a combination of variants have been shown to increase the risk of breast cancer. Color vision deficiency or color blind-
ness is a condition that is present from birth but can go unnoticed for years. Genotyping can tell us the exact type of color vision deficiency and the precise level of severity, an advantage over time-
54 datia focus
consuming and subjective visual tests. Knowing whether a child is color vision deficient can be a major advantage for scholastic achievement, and later on when choosing a career path. Tere is hope that color vision deficiency can be corrected in the future through gene therapy. Such treatment has been proven effective in primates at the University of Washington. Today, patient genotyping is central to
the success of personalized medicine. Due to the decreasing costs of next generation sequencing (NGS), it appears that this technology will be widely available to pa- tients in the very near future. One particu- lar use for NGS would be in the diagnosis of cancer. Cancer is oſten an individualistic disease as many cancers are unique to an individual patient. NGS can yield informa- tion particular to that cancer and allow an informed decision by the provider as to the optimal cancer drug to be prescribed. Tese are exciting times as we shiſt from population-based methods of the past to the individualized medicine of the future. Genetic technology is enabling us to beter identify the cause of disease and the correct treatment options. ❚
summer 2014
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