Carrier screening gives individuals and couples information about their chance of having a child with an inherited genetic condition: specifically cystic fibrosis (CF), fragile X syndrome (FXS) or spinal muscular atrophy (SMA). These three genetic conditions have serious health consequences and are some of the most common inherited conditions in the general population.

Tiong, Zornitza, Sue and Seb receiving their public health award

VCGS has been recognised for their groundbreaking work in genetic diagnostics by winning the ‘Improving Children’s Health’ category in the 2017 Victorian Public Healthcare Awards.

Their project titled ‘Pioneering clinical genomics in undiagnosed children’ demonstrated the benefits of genomic sequencing early in the diagnostic pathway. Sequencing provided a diagnosis in more than 50 per cent of patients, four times the rate of standard care (and cheaper too).


In June 2017, the Victorian Clinical Genetics Services became the first to include the assessment of all 24 chromosomes (chromosomes 1-22 + X and Y) in its non-invasive prenatal testing (NIPT) service. Most NIPT services identify pregnancies at increased chance of the common chromosome conditions such as Down syndrome, however percept™ now gives women and couples access to additional information about the health of their pregnancy.

Victorian Clinical Genetics Services (VCGS) and Melbourne Genomics Health Alliance are celebrating the milestone of 100 Australian families who now have an answer for their child’s previously undiagnosed genetic disorder – thanks to clinical genomic sequencing.

Victorian Clinical Genetics Services and Murdoch Childrens Research Institute develop a new test to monitor the success of bone marrow transplants.

A new blood test developed by researchers at the Victorian Clinical Genetics Service (VCGS) and Murdoch Childrens Research Institute (MCRI) allows clinicians to more confidently measure the health of bone marrow transplants and react more quickly to any changes in the transplant.

Did you know that DNA extracted from saliva can provide a viable alternative to invasive venepuncture for many DNA based tests?

At VCGS, we routinely use DNA isolated from saliva for many of our DNA based tests.

Test performance is equal to DNA from a blood sample and saliva provides an ideal alternative to blood. This is particularly useful for children with behavioural conditions, such as autism spectrum disorders, or for when travelling to a collection centre is difficult, such as remote or rural settings.

In 2016, Victoria is celebrating 50 years of the newborn screening program. Based at The Royal Children’s Hospital in Melbourne, The Victorian Clinical Genetics Services (VCGS) plays a vital role in this program. VCGS operates the screening laboratory for the State and has analysed nearly 80,000 newborn blood samples in 2015.

The Victorian Clinical Genetics Services (VCGS) is one of only a few pathology providers in Australia to receive accreditation from the National Association of Testing Authorities (NATA) for its whole-exome sequencing service and the first in Victoria. This means VCGS can offer the latest in genetic sequencing technology to patients and providers across the country.