Population genetic screening.

BACKGROUND

Genetic screening programs in Australia are primarily carried out during pregnancy for maternal thalassaemia carrier status, chromosomal conditions and neural tube defects in the fetus, and for a number of conditions in the newborn.

OBJECTIVE

This article describes these programs and the general practitioner's role, particularly around offering prenatal screening that includes nongenetic aspects (eg. smoking, alcohol), to enable good practice.

DISCUSSION

General practitioners can be involved in offering prenatal screening and in giving increased risk results from prenatal and newborn screening, with due consideration of informed decision making and counselling about the meaning of the result. Increased risk results from these screening programs are followed up by further testing where required. As genetic contribution to diseases, especially complex common conditions, becomes better understood, more genetic tests will become available. This may impact on the role of the GP in population genetic screening programs.