Genetics for the general internist

Am J Med. 2012 Jan;125(1):7-13. doi: 10.1016/j.amjmed.2011.07.034. Epub 2011 Nov 11.

Abstract

The internist's goal is to determine a patient's disease risk and to implement preventative interventions. Genetic evaluation is a powerful risk assessment tool, and new interventions target previously untreatable genetic disorders. The purpose of this review is to educate the general internist about common genetic conditions affecting adult patients, with special emphasis on diagnoses with an effective intervention, including hereditary cancer syndromes and cardiovascular disorders. Basic tenets of genetic counseling, complex genetic disease, and management of adults with genetic diagnoses also are discussed.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Down Syndrome / physiopathology
  • Genetic Counseling
  • Genetic Testing / trends*
  • Humans
  • Internal Medicine / trends*
  • Neoplastic Syndromes, Hereditary