Screening neonates for cystic fibrosis

Medicine has been encouraged to adopt a more patient led approach to care, and this has particular importance in clinical genetics. Rapid advances in technology have made it possible to identify people who carry recognised faulty genes even if they are apparently healthy but risk developing a condition in later life. Other people may be carriers for a recessively inherited condition and although unaffected themselves may risk passing the condition to their children, potentially causing problems if their partner is also a carrier.

Criteria exist about whom, why, and how people in “at risk” groups should be tested.1 In this article, at risk groups are those that meet criteria for genetic testing because of their family history. To fully appreciate all the considerations requires an understanding of the clinical context surrounding the request for a genetic test. This is particularly important in paediatrics, where we are taught that medical interventions should only be introduced if their result is in “the best interests of the child.” But people may interpret “best interests” in different ways.

Approaches to genetic testing have been debated extensively.² First, though, you must be aware of what different tests entail.

Carrier testing -A genetic carrier test can identify a healthy person whose children could be affected by a particular genetic condition. This has potential implications only at reproductive age. To do such a test in childhood arguably infringes a child's future …