Certified Consultant Biochemical Geneticist, NATA assessor
I am primarily responsible for providing a diagnostic service for inborn errors of metabolism covering the state of Victoria. The laboratory that I supervise provides screening tests for amino acid, organic acid, mucopolysaccharide and purine/pyrimidine disorders. Testing is also carried out for galactosaemia and disorders of sterol metabolism as well as monitoring metabolite levels in some patients with confirmed inborn errors. Approximately one third of the samples are from patients of the Royal Children’s Hospital, where the lab is situated, with the bulk coming from other Victorian hospitals and private pathology laboratories. My laboratory works closely with clinical geneticists and scientists from Genetic Health Services Victoria and the Murdoch Children’s Research Institute.
I also supervise the laboratory aspects of the expanded newborn screening program using tandem mass spectrometry. In 2000 I introduced this new service and supervised a pilot program and staff training. This work involved the development of software and algorithms to identify abnormals and a novel means of data analysis using multiples of median (MoM) was introduced.
I began working in biochemical genetics in 1984 when I was employed to bring expertise in mass spectrometry to the laboratory. Since 1990 I have been responsible for the overall management of the laboratory. My work involves supervision of all aspects of laboratory work and providing customers with fully interpreted results and advice. A large proportion of the requesting physicians are not experts in the field of inborn errors and this requires frequent consultation and explanation of abnormal results. I also ensure that the most appropriate tests are performed for each patient’s clinical condition, not just those requested. This may require additional consultation and requests for additional specimens in