Testing Children for Genetic Carrier Status

Abstract

A number of studies have shown that some parents of children with a genetic condition are interested in knowing the carrier status of their other, unaffected children. The majority of international guidelines suggest that carrier testing in childhood is inappropriate and should be delayed until the child reaches the age of majority. These recommendations are often based on theoretical concerns and ethical considerations as there is a lack of evidence in the literature that performing carrier testing in childhood leads to any psychosocial harm. There is also evidence that carrier testing does take place in some circumstances. The different guidelines and position statements of professional bodies regarding carrier testing in childhood are reviewed. The views of both health professionals and parents about whether carrier testing is appropriate are described, along with the current evidence regarding the psychosocial impacts of performing carrier testing in children.

Key Concepts

  • The majority of international guidelines recommend against carrier testing in childhood.
  • Despite the guidelines, carrier testing does take place in some children in the context of an affected sibling.
  • Health professionals' willingness to test children for carrier status depends on a range of different factors, including the genetic condition.
  • Some parents want to know the carrier status of their unaffected children following the diagnosis of an affected child.
  • Parents express a range of motivations for desiring this information, although many want to communicate the carrier information to their child.
  • Currently there is no evidence of harm from performing carrier testing in childhood, although further research is warranted.

Keywords: carrier testing; children; parents; health professionals; psychosocial; genetic counselling

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Further Reading

Borry P, Shabani M and Howard HC (2014) Is there a right time to know? The right not to know and genetic testing in children. Journal of Law and Medical Ethics 42 (1): 19–27. DOI: 10.1111/jlme.12115.

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Vears DF (2016) Genetic carrier testing in children. In: McDougall R, Delany C and Gillam L (eds) When Doctors and Parents Disagree: Ethics, Paediatrics and the Zone of Parental Discretion. Sydney: Federation Press.

Wertz DC and Reilly PR (1997) Laboratory policies and practices for the genetic testing of children: a survey of the helix network. American Journal of Human Genetics 61 (5): 1163–1168. DOI: 10.1086/301593.

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Vears, Danya F(Feb 2017) Testing Children for Genetic Carrier Status. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0027098]