TY - CHAP M1 - Book, Section TI - Chapter 172. Principles of Care A1 - Leonard, Claire O. A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. PY - 2011 T2 - Rudolph's Pediatrics, 22e AB - The contribution of genetic variation to health and disease has become increasingly clear as a result of our burgeoning understanding of the human genome. Genomic medicine uses an understanding of the individual’s genetic makeup to enhance the quality of medical care, including presymptomatic identification and prevention, determination of susceptibility to disease, selection of treatments, and individual clinical care based on genotype. Most diseases fall somewhere on a continuum from single-gene disorders, disorders with a major gene effect, disorders with complex traits, and those with a predominantly environmental causation. The majority of genetic disorders are multisystemic in their manifestations. Most children with special health care needs have disorders that are caused by mutations in single genes or variations in chromosomes or that are heavily influenced by genetic factors. Genetics can no longer be considered as only the identification of rare syndromes and inborn errors of metabolism. Care for the child with a genetic disorder involves five major activities—suspicion, diagnosis, management, genetic counseling, and advocacy. These activities require a partnership between the pediatrician, one or more specialists or specialty teams, the family, and schools and other support services. No physician can hope to recognize and personally manage all genetic disorders, many of which are quite rare. Treatment for genetic conditions is advancing rapidly, encompassing much more than the supportive care previously available. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=6728607 ER -