Carrier testing in children: exploration of genetic health professionals' practices in Australia

Despite genetic health professionals routinely providing carrier testing in adults, carrier testing in unaffected children after a sibling is diagnosed with a genetic condition remains controversial. The majority of international guidelines addressing genetic carrier testing in children recommend against providing this testing, yet little is known about current practice. This study aimed to determine whether genetic health professionals receive requests for carrier testing in unaffected children from parents of children with genetic conditions and whether they provide this testing.

Semistructured interviews were conducted with 17 Australian genetic counselors and clinical geneticists and analyzed using inductive content analysis.

The genetic health professionals indicated that some parents do request carrier testing in their children, often after the diagnosis of a genetic condition in another child. Although all interviewees stated they initially advise against carrier testing, if the parents persist with their requests, then testing is occasionally provided. They indicated they consider factors such as the maturity of the child, anxiety of the parents, and potential medical benefit to make clinical judgments about when testing is appropriate, rather than relying solely on guidelines.

This study sheds light on current practices in carrier testing for children, validating this as an area that still requires attention.