Synopsis
Victoria’s newborn bloodspot screening (NBS) program commenced in 1966 with screening for phenylketonuria, and from the early 1970’s close to 100% of newborns were being screened. Improvements in analytical and genetic testing technologies saw the successive introduction of screening for congenital hypothyroidism, cystic fibrosis and 22 metabolic conditions. Today, Victoria’s NBS program detects about 80 babies per year with these conditions, preventing life-long debilitating outcomes and even death. The latest addition to the NBS panel is congenital adrenal hyperplasia, commencing this July. This Grand Round will present the current state-of-play for Victoria’s NBS program, the impact of congenital adrenal hyperplasia screening and a look ahead to how genomic technology may influence NBS in the future.
Speakers
Dr James Pitt, Head of the Newborn and Metabolic Screening Laboratories, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute. James is a biochemical geneticist who initially trained in chemistry and then undertook post-graduate studies using mass spectrometry to study protein structure. In 2000, he joined the NBS Laboratory and introduced mass spectrometry testing for a range of metabolic disorders. James’ research focuses on using metabolomics and mass spectrometry to improve laboratory testing, diagnosis of metabolic disorders and discovery of new disorders.
Associate Professor Ronda Greaves, Deputy Head of the Newborn and Metabolic Screening Laboratories, VCGS. Rhonda is a clinical biochemist, her research uses mass spectrometry and chromatography in biochemical assays with a focus on disorders of steroid metabolism, including the recently introduced testing for congenital adrenal hyperplasia.
Associate Professor Sebastian Lunke, Head of the Division of Genetics and Genomics. Sebastian joined the Division of Genetics and Genomics after post-doctoral research in cancer genomics. His team at VCGS is one of the largest NATA accredited clinical genomics laboratories in Australia, with a strong focus on delivery of high-quality clinical genomics assay and translation of novel technologies into clinical practice. One of his current research interests is the application of genomic technologies to newborn blood spot screening.