EVALUATION OF THE EFFECTIVENESS OF EXPANDED NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY [ 2003 - 2005 ]

Research Grant

Researchers: Prof Bridget Wilcken (Principal investigator) ,  Dr Veronica Wiley ,  Pamela Joy ,  Prof Marion Haas

Brief description Newborn babies in Australia are routinely tested for certain treatable disorders. Testing began in the 1960's with systematic testing for phenylketonuria, a rare amino acid enzyme defect. It causes severe mental retardation which can only be prevented if treatment is begun in the first few weeks of life. By 1997, only three other disorders, congenital hypothyroidism, cystic fibrosis, and galactosaemia, had been added to the testing protocol as tests became available. Using the new technology of tandem mass spectrometry (MSMS) it is now possible to screen for up to 30 extremely rare, treatable metabolic disorders simultaneously and cheaply, but it is not clear how effective this is. A formal trial of MSMS screening, randomly assigning babies to be tested or not tested, does not seem feasible because of the rarity of the individual disorders (most with a birth prevalence much less than 1: 50,000). Huge numbers would be needed in the trial for statistical significance. We began MSMS screening in NSW April 1998 and in South Australia in February 1999. Victoria is proposing to start screening now, but there are as yet no plans for this screening in the other states. We would like to assess the effectiveness of MSMS newborn screening using the best possible evidence drawn from all data available in the whole of Australia. We plan to undertake an economic evaluation, comparing costs and benefits such as development, hospitalisations, medical complications and other outcome measures, in screened and unscreened babies and also assess harms from screening. Because only 6 specialised laboratories in Australia, in Brisbane (2), Sydney, Melbourne, Adelaide, and Perth can diagnose these disorders, we are confident that we know of all diagnosed cases of the disorders in question. We hope to be able to show whether or not there is a benefit to affected babies by implementing newborn screening tests for these rare diseases.

Funding Amount $AUD 375,250.00

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant