Abstract
Policies relating to Newborn Screening Programs (NBSP) in Australia are State based. A Human Genetics Society of Australia (HGSA) / Royal Australasian College of Physicians (RACP) Joint Committee on Newborn Screening sets laboratory and clinical standards for NBSP. An Australian Health Ministers' Advisory Council (AHMAC) advisory group failed to achieve consensus between States. The importance of the inclusion of health professionals actively involved in NBSP in any policy making body was highlighted by this exercise. Controlled studies of NBSP are difficult because the disorders are rare, requiring vast numbers of screened infants and lengthy follow up periods to demonstrate benefit. The problems of requiring published data before instituting NBSP are well demonstrated by screening for congenital adrenal hyperplasia, as the technologies used in published studies have become superseded before publication, and by the comparison of NBSPs in Australia and the United Kingdom regarding expanded newborn screening. There have been recent challenges to the Wilson and Jungner guidelines for selection of screened disorders with the value of genetic knowledge for families, even if there are no accepted treatments, being promoted. Conditions such as Duchenne muscular dystrophy, for which treatments have been developed for only certain genotypes, and lysosomal storage disorders, for which treatment is very expensive and very burdensome, will provide challenges for NBSP in the immediate future.
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