Genetic testing: when to test and when to refer

Paediatricians care for children with known or suspected genetic conditions and children at risk of genetic disorders based on family history. Paediatricians are expected to help establish the diagnosis of a genetic disorder, coordinate long-term care and serve as a resource for the family. The ever-changing landscape of genetic tests, test methods, and test sensitivity can be daunting to even the most experienced geneticist. Paediatricians need to ask questions addressing the timely use of genetic testing and thereby make decisions about when to test and when to refer.