Genetic Testing of Children: A Clinical Perspective


It is generally well recognised and accepted that opportunities exist to test individuals for genetic disorders; however, the application of such genetic testing during childhood is subject to controversy and debate. The views of the child, parent and professional must be considered and how these views are weighted will vary with each and every case. For conditions where there is a recognised medical treatment, childhood genetic testing is generally justified. However, testing children for carrier status or predictively for an adult‐onset condition should be approached with extreme caution. The introduction of more sophisticated genetic testing methods such as array CGH and next‐generation sequencing has another level of complexity, with the increased identification of incidental findings and variants of uncertain significance. The advent of direct‐to‐consumer testing and advances in prenatal and newborn testing have also influenced the debate about testing in childhood.

Key Concepts

  • Genetic tests may be diagnostic, predictive or assess carrier status.
  • Genetic testing may be performed prenatally, in the newborn period, in childhood, adulthood or on stored DNA from deceased relatives.
  • Childhood genetic testing is generally instigated by parents/guardians, but the views and opinions of children must be sought.
  • Testing in childhood that is performed predictively or to assess carrier status takes away the child's right to decide on testing for themselves when older.
  • New genetic testing technologies increase the diagnostic rate but may identify uncertain or incidental findings.

Keywords: genetic testing; childhood testing; predictive testing; carrier testing; adult‐onset disorders; consent; incidental findings; direct‐to‐consumer testing; next‐generation sequencing; prenatal testing


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Jain, Vani, and Procter, Annie(Apr 2017) Genetic Testing of Children: A Clinical Perspective. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005620.pub2]