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

摘要

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.