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A collaborative study, under the auspices of Melbourne Genomics Health Alliance, published this week has found that genomic testing for patients with suspected genetic kidney disease leads to more definitive diagnosis and has a substantial, quantifiable impact on care.

Lead authors Dr Kushani Jayasinghe and A/Prof Catherine Quinlan investigated the impact of genomic testing for patients with suspected genetic kidney disease over a two-year period (2017-2019).

Martin, Zornitza

Doctors and scientists at Victorian Clinical Genetic Services (VCGS) are working towards better carrier screening and rapid genomic testing programs, to give Australian families tools to understand the cause of an unknown condition or make informed choices when planning a family.

Reproductive carrier screening

lab scientist at work

Non-invasive prenatal screening (NIPS or NIPT) using cell-free DNA has been widely adopted into clinical practice and is currently used to identify pregnancies that have an increased chance of chromosome conditions such as Down syndrome, Edwards syndrome and Patau syndrome.

Genome-wide NIPS is an advanced form of NIPS that is used to screen all 23 pairs of chromosomes. This test can identify whole extra or missing chromosomes, as well as partial deletions or duplications of chromosomes.

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An Australian Genomics Health Alliance study led by Associate Professor Zornitza Stark (Consultant Clinical Geneticist) & Dr Sebastian Lunke (Head of Genetics & Genomics) has been published in the latest issue of the Journal of the American Medical Association (JAMA). The study highlights how ultra-rapid genomic testing can transform the diagnosis and treatment of children in intensive care.

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Over $33 million has been provided for genomics research to support cancer and children’s diseases. The grants are the first from the new government funded Genomics Health Futures Mission.

17 projects across Australia have received funding, including two being run by MCRI and VCGS.

Read government Media Release

Genetic carrier screening gives individuals and couples information about their chance of having a child with an inherited genetic condition, such as cystic fibrosis. Cystic fibrosis mainly affects the lungs and is one of the most common inherited conditions in the general population.

Champion of genomic medicine, Professor Kathryn North, has been awarded the Companion of the Order of Australia as part of the Australia Day honours.

The Murdoch Children’s Research Institute (MCRI) Director and the Victorian Clinical Genetics Services (VCGS) Executive Chair has dedicated her life to improving healthcare by promoting the use of genomics in mainstream medicine.

Prof North’s discoveries on genetic disorders have helped thousands, and as director of the MCRI she leads 1300 researchers, including some of the country’s superstars of genomic medicine.

Genetic counselling is one of the rarest jobs in Australia – with only 230 employed nationwide.

Genetic counsellors work in many areas of medicine, including paediatrics, prenatal, infertility, neurology, cancer and cardiology. Many counsellors work directly with patients, while others carry out research in public laboratories and for industry. Some are employed in health education.

Victorian Clinical Genetic Services (VCGS) carries out tests for hundreds of genetic conditions impacting adults and children.