The goal of newborn screening is early identification of children affected by congenital and metabolic disorders for which medical treatment can be promptly initiated to avert metabolic crises and prevent irreversible neurological and developmental sequelae. Early identification of these conditions is crucial, as timely intervention can lead to a significant reduction of morbidity, mortality, and associated disabilities in affected infants. Currently there is a draft national policy document being prepared by the Australian Health Ministers’ Advisory Council’s Advisory Group on Human Gene Patents and Genetic Testing which includes issues of consent, storage, retention period, access, conditions included in the program, data collection and reporting, and the process for approval of new tests/conditions in the program.

Victoria has conducted its own review of the newborn screening program for the following reasons:

• Although there is support for national guidelines, there will be an inevitable delay in their production.

• Victoria is unique in that the collection of the cards is held by a private sector (not for profit) agency.

• Research and anecdotal evidence suggests that parents may not know their baby is being tested, and that the blood may also be used for other purposes.

• There is a need to promote the program and reassure parents that appropriate safeguards are in place.

• Greater clarity is required about what protections currently apply, including to DNA samples, and whether they are adequate.