TY - CHAP M1 - Book, Section TI - Genetics for Family Physicians A1 - Hogge, W. Allen A2 - South-Paul, Jeannette E. A2 - Matheny, Samuel C. A2 - Lewis, Evelyn L. PY - 2015 T2 - CURRENT Diagnosis & Treatment: Family Medicine, 4e AB - A common misconception in the medical community is that genetic disorders consist of a collection of extremely rare conditions that are seldom relevant to day-to-day clinical practice. In fact, essentially every medical condition affecting humankind has at least some genetic component to its etiology. The study of how mutations in single genes cause rare disease (genetics) is gradually being eclipsed by research on how mutations in multiple genes interact with each other and the environment to result in health and disease (genomics). Knowledge derived from genomic discoveries is reshaping the underpinnings of much of medical practice, and will continue to do so for decades to come. At a practical level, recent advances have taught us a tremendous amount about the basis of common conditions such as diabetes, heart disease, and cancer. This new knowledge is being rapidly translated into approaches for disease risk assessment, prevention, and treatment. Likewise, the study of how genes affect drug metabolism (pharmacogenetics) is being increasingly used to inform drug prescribing (see Chapter 49). Importantly, primary care physicians should not lose sight of the fact that so-called rare single-gene disorders collectively represent a significant proportion of pediatric and adult illnesses. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/04/23 UR - accessmedicine.mhmedical.com/content.aspx?aid=1106852201 ER -