I have been involved in several areas of newborn screening, and my thesis deals with two of these: -cystic fibrosis and tandem mass spectrometry. It comprises 36 papers describing work carried out between 1981 and 2008. This is arranged in sections to describe the implementation of screening and the evaluation of outcomes for each of these areas, cystic fibrosis and tandem mass spectrometry, as well as papers reviewing important general aspects of newborn screening -a review of current newborn screening, the problems of evaluation of outcome where disorders are very rare, and the ethical issues involved in screening.
I believe my major contributions to knowledge and medical practice have been:
• Fostering the recognition that the clinical diagnosis of cystic fibrosis was considerably delayed, that newborn screening was feasible in the field, and that patients with pancreatic sufficiency were readily diagnosed by newborn screening;
• The evaluation and review of different screening strategies for cystic fibrosis;
• The demonstration that identification of cystic fibrosis by screening confers a significant health benefit by greatly reducing hospitalisation in the early years, and providing nutritional and pulmonary benefits later in life;
• Initiating screening by tandem mass spectrometry in New South Wales -the first publicly-funded state-wide screening for disorders of amino acid and fatty acid metabolism -and delineating some of the disorders which could and could not be reliably detected by this technology;
• Providing the first population-based audit of the rate of diagnosis of these disorders clinically compared with diagnosis by newborn screening;
• Providing the first clear demonstration of significant clinical benefits of tandem mass spectrometry screening for the commonest disorder of fatty acid oxidation, medium-chain acyl-CoA dehydrogenase deficiency.
• Promoting the proper use of newborn screening programmes by examining the rationale for screening, ethical aspects, and what disorders should and should not be included in newborn screening programmes
