Rare Disease Now (RDNow) is a project funded by the RCH Foundation which aims to establish a pathway for children with a rare disease that remains undiagnosed, even after genomic testing. The project seeks to give these children the best chance of receiving a diagnosis and to access the latest clinical trials and treatments.

Direct to consumer (DTC) or DIY genetic tests are available for anyone to purchase, and their use is increasing. How accurate and useful are these DTC genetic tests and where can you find more information on these tests?

Victorian Clinical Genetic Services (VCGS) is pleased to announce an exciting collaboration with Twist Bioscience, a leading synthetic biology and genomics company, to develop a bespoke whole exome sequencing assay for VCGS. The assay will be used to identify the cause of health and developmental problems and will help clinicians make informed decisions about treatment and management plans for their patients.

Lauren Thomas recently completed her Masters of Genetic Counselling, a professionally accredited program required for entry into the field of genetic counselling. As part of her Masters course, Lauren investigated the views of parents of children with genetic conditions about which types of conditions they thought should be screened through reproductive genetic carrier screening. The paper presents the views of 150 parents, highlighting the considerations and complexities associated with deciding which conditions to include in carrier screening panels.

For genetic counsellors, each day is different. They work with specialist health professionals to order genetic tests, interpret clinical genetic reports and help individuals, couples and families understand their genetic make-up.

At the heart everything they do is their client and their role as a translator. Genetic counsellors work between doctors and the families to simplify complex medical information into meaningful messages.

Victorian Clinical Genetics Services (VCGS) assessed the motivations and experiences of over 200 women who had NIPT in Victoria. The study identified that detecting chromosome conditions and seeking reassurance as the most common reasons women wanted to use NIPT. The study also highlighted the importance of making informed decisions about prenatal screening and the results obtained.

Learn more about NIPT and read the study’s insights in full below.

young boy running through water

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.