Genetic testing of children for diseases that have onset in adulthood: the limits of family interests

Pediatrics. 2014 Oct;134 Suppl 2(Suppl 2):S104-10. doi: 10.1542/peds.2014-1394F.


Two recent policy statements, one from the American Academy of Pediatrics and one from the American College of Medical Genetics, reach very different conclusions about the question of whether children should be tested for adult-onset genetic conditions. The American Academy of Pediatrics policy begins with the presumption that genetic testing for children should be driven by the best interest of the child. It recognizes the importance of preserving the child's open future, recommending that genetic testing for adult-onset diseases be deferred. The American College of Medical Genetics, by contrast, recommended testing children for at least some adult conditions, although it should be noted they have recently modified this recommendation. They justified this recommendation by arguing that it, in fact, was in the best interests of the child and family to receive this information. In this article, we analyze these 2 different positions and suggest ways that the seeming conflicts between them might be reconciled.

Keywords: best interests; ethics; genetics; legal issues; newborns.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Child
  • Child Advocacy / ethics
  • Decision Making*
  • Family / psychology*
  • Genetic Testing / ethics*
  • Guidelines as Topic
  • Humans
  • Pediatrics / ethics*