New US guidelines on genetic testing of children

27 February 2013

The American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) have jointly issued a new policy statement on the genetic testing and screening of children and newborns.

The statement begins from the premise that decisions about whether to offer genetic testing and screening should be driven by the best interests of the child, and should be made in the context of adequate genetic counselling for parents and also the child, where appropriate.

The new recommendations are more relaxed about who should provide genetic counselling than previous guidance from the ACMG (see previous news), suggesting that non-genetic specialist health professionals such as paediatricians could provide the information necessary for parents and children to make informed decisions, providing they have received appropriate training.

Key points of the policy statement:

  • Diagnostic genetic testing should follow the same rationale as that for any other medical diagnostic test.
  • Pharmacogenetic testing is acceptable with parental permission and prior discussion of implications.
  • Mandatory offering of screening for all newborns is supported, providing parents are fully informed beforehand and have the right to refuse.
  • Routine carrier testing in minors should not take place if it does not provide health benefits in childhood.
  • Predictive genetic testing for adult-onset conditions should not be carried out.
  • Histocompatibility testing of minors to serve as potential stem cell donors for family members is permissible, but only after thorough exploration of all the implications.
  • Testing of adopted children should follow the same rationale as for those in biological families, but in rare cases predictive genetic testing may be in a prospective adoptee’s best interests to ensure placement with a family who can cope.
  • Parents should be made fully aware of potential implications of a genetic test for other family members and of risks of disclosure of matters such as misattributed paternity or adoption.
  • Direct-to-consumer and home genetic testing of children is strongly discouraged due to lack of oversight for these tests.

A commentary on the new guidelines by Alison Hall, PHG Foundation's Senior Policy Advisor, can be read here.

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