A GP guide to genetic conditions in childhood

There has been a major shift in the way genetic conditions are diagnosed and managed in Australian children over the past decade, as well as moves towards more widespread preconception screening.

Preconception screening

Around 3% of infants in Australia are born with a significant physical and/or intellectual disability that is, in many cases, associated with a shortened life span.

For many of these conditions, it is now possible to identify a genetic cause.

When the underlying gene fault is inherited from one or both parents, it is, in principle, possible to detect risk prior to pregnancy, which means prospective parents can avoid having an affected child.

Population genetic carrier screening is offered to individuals without a family history of a genetic condition and is aimed at informing reproductive decision-making and planning.

Such screening programs were