News

VCGS welcomes support from the Victorian Department of Health to include screening for CAH, a serious genetic disorder that affects the adrenal glands, in the Newborn Bloodspot Screening program.

Screening for a genetic condition that affects the adrenal glands, and if left untreated can cause sudden death in infants, will be developed in 2021-22 as part of the Newborn Bloodspot Screening (NBS) Program in Victoria.

Professors Zornitza Stark, David Thorburn and John Christodoulou are among the 17 Australian researchers who led grants that received a share of $46.5 million for genomics research. The funding is part of the 2021 MRFF Genomics Health Futures Mission round, announced today by Federal Health Minister Greg Hunt. The projects aim to increase rare disease diagnoses and improve patient outcomes.

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.

Reproductive carrier screening for fragile X syndrome, spinal muscular atrophy and cystic fibrosis is now a step closer to be listed on the Medicare Benefits Schedule.

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.