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    Epigenetics and genetics: The future of cost-effective care?

    New tools, including DTC tests, have wide-ranging clinical and medicolegal ramifications

    James M. Hotaling, MD, MSJames M. Hotaling, MD, MS Douglas T. Carrell, PhDDouglas T. Carrell, PhD Section Editor Steven A. Kaplan, MDSection Editor Steven A. Kaplan, MD

    Dr. Hotaling is assistant professor and Dr. Carrell is professor in the division of urology at the University of Utah School of Medicine, Salt Lake City. Dr. Kaplan is professor of urology at the Icahn School of Medicine at Mount Sinai and director of benign urologic diseases, Mount Sinai Health System, New York. Follow him on Twitter at @MaleHealthDoc.

    Genetics and epigenetics will likely become a valuable asset in urologic care. The central dogma of biology is that DNA can lead to RNA production, which can make proteins, alterations of which can cause disease states. This paradigm has been further revealed by improved understanding of dynamic epigenetic pathways wherein changes and exposures over the course of an individual’s lifetime can cause noncoding changes that alter gene expression and protein production.

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    Epigenetic marks may be driven by DNA sequence, alterations in various enzymes, or environmental exposures, such as diet, exercise, and other medical conditions that fluctuate over the course of a lifetime change in the gene expression. Perhaps even more intriguing is that these acquired changes can be passed on to future generations through a man’s sperm (Nature Neuroscience 2014; 17:89–96) (figure 1). The impact of lifestyle and exposure to a man’s spermatogonial stem cells and propagation of these changes to offspring through methylation has now been proven in many studies.

    The purpose of this article is to provide a clear understanding of the basis for the genetic and epigenetic tools that are increasingly used in medicine, highlight some of these tools currently used in urology, and explain the clinical and medicolegal ramifications of direct-to-consumer tests.

    Next - The genetic revolution: Urologic applications

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