Our History

Genetic services were first set up by Professor David Danks in the late 1960's, commencing as a clinic of The Royal Children's Hospital. At this time the main service related to clinical diagnosis and recurrence risk counselling for couples who had a child with a serious birth defect or a genetic disorder. A newborn screening program was set up to screen for phenylketonuria (from 1965) and hypothyroidism (from 1977). Screening for cystic fibrosis was added later (in 1989). There was growing knowledge about metabolic disorders (disturbances of body chemistry) and chromosome testing was available.

In the early 1970's, Genetics moved into the area of obstetrics with the advent of ultrasound and options for prenatal diagnosis: amniocentesis from 1994 and chorion villous sampling from 1985. Dr John Rogers was instrumental in setting up clinical services. Genetic services were established in obstetrics hospitals, where the medical geneticists (most often paediatricians trained in clinical genetics) worked in collaboration with obstetricians who performed the diagnostic procedures and provided obstetric care. Carrier testing became available for a small number of disorders and aimed to identify those at risk of having affected children.

The Victorian Clinical Genetics Services (VCGS) was established in 1988 with dedicated funding from the Department of Human Services. The laboratory research activities in genetics became consolidated in the newly established Murdoch Institute for Research into Birth Defects with seed funding from the Murdoch family under the patronage of Dame Elisabeth Murdoch. The VCGS expanded its clinical services to other metropolitan hospitals and later to non-metropolitan centres. By 2000 there were clinics in 10 metropolitan and 10 regional centres.

Following the retirement of Professor Danks and the appointment of Professor Bob Williamson as Executive Director of the VCGS and Director of the Murdoch Intitute, with rapid expansion of services and staff, and with funding from the Department of Human Services and the Murdoch family new office space was refurbished and officially opened in 1998. An external review of the VCGS commended the VCGS on the high quality of our services. Dr Stephen Kahler was appointed Clinical Director in 1998. The advent of gene testing in the 1990's created possibilities for predictive testing for adult onset disorders in neurogenetics and cancer genetics and Preimplantation Genetic Diagnosis (PGD). Genetic Services became increasingly relevant to the adult community and had broader utilization in reproductive genetics.

Diagnostic laboratory services evolved with time. First the Royal Children's Hospital cytogenetic service came under the umbrella of the VCGS in 1986, newborn screening in 1990 and maternal serum screening laboratory was established in 1996. The Molecular genetic diagnostic services evolved from the research activities of Murdoch Childrens Research Institute as did more recently, the mitochondrial enzymology.diagnosis, which provides testing for Australasia. Significant changes occurred in 2000 in the cytogenetic and metabolic laboratories.

The year 2000 was a time of change. The Murdoch Institute merged with The Children's Hospital Research Institute to become the Murdoch Childrens Research Institute. The metabolic screening laboratory came under the management of the VCGS and the cytogenetic laboratory of The Royal Women's Hospital and the VCGS cytogenetic lab amalgamated under the VCGS.

A VCGS Retreat led to the appointment of Professor Agnes Bankier as l Director of the VCGS in September 2000. A new management structure was put in place which shares the operational structure of the Murdoch Childrens Research Institute through their common Chief Operations Officer, Anne Cronin.

The Clinical activities of the VCGS started to operate as Genetic Health Services Victoria in 2001 as part of a promotional campaign to improve accessibility of our services and the diagnostic laboratories became known as VCGS Pathology in 2005.