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📢 Exciting new research out 📢 On the emerging area of genetic counselling for rapid turn around genomic testing!

We’re thrilled to announce the publication of SpliceVarDB: A comprehensive database of experimentally validated human splicing variants in AJHG 🧬 📖 cell.com/ajhg/fulltext/… #splicing #GeneChat

Awesome work from Patricia Sullivan’s PhD. All the splicing 😍 #GeneChat

Classifying genomic variants? Have case control data for PS4? Try our new tool, the PS4-Likelihood Ratio Calculator (turnbull-lab.shinyapps.io/ps4_lrcalc/). jmg.bmj.com/content/early/… Allows user to define the odds ratio (representing anticipated underlying strength of disease association

Absolutely - illustrates why ancestry based carrier frequencies should *never* be used to guide reporting practices from genomic sequencing 🧬 #GeneChat

Kia ora, this week is Te Wiki o te Reo Māori (Māori Language Week) an annual celebration of the Māori language! Make it seen, make it heard! Kia Pai to Rā

MAVE (multiplexed Assay of Variant Effect) for >9000 variants in RAD51C; will be of high clinical utility for interpretation of (in particular) missense variants detected on clinical testing in cancer patients ACGS @UKCGG CanGene-CanVar 🧬 ClinGen

For Childhood Cancer Awareness month, we sat down with the Australasian Society of Genetic Counsellors (ASGC) team to discuss our roles working in paediatric cancer genetics & Australia’s national precision med program for kids with cancer 🎗️ Childrens Cancer Institute Kids Cancer Alliance Dr Richard Mitchell #GeneChat #ChildhoodCancer

I’m thrilled the Generation Study has launched Developing evidence on the potential of genomic newborn screening to be offered to all babies to enable earlier diagnosis and treatment for children with 200+ rare conditions 🧵... tinyurl.com/NewbornStudy

Lack of health-related quality of life data for children with rare/genetic conditions poses challenges to understanding impacts of early detection. We highlight importance of collecting HRQoL data to inform (genomic) newborn screening decisions. link.springer.com/article/10.100…

Look beyond exons! Non-coding variants in introns, UTRs, promoters & enhancers in trans with pathogenic coding variants bring answers in undiagnosed recessive developmental disorders bit.ly/3XWxxyf Nicky Whiffin Diana Baralle Hilary Martin Jenny Lord

Thrilled to share our review on the role of EZHIP in DMG, another epigenetic regulator misbehaving with still many unresolved questions on the genetics, epigenetics, cell of origin and therapeutic aspects. If you want to know more please have a look: sciencedirect.com/science/articl…

At the LFSA Youth Panel, six young adults shared their experiences following an LFS diagnosis and offered valuable advice. A common perspective was the importance of connecting with peers who understand the LFS journey, and they encouraged both parents and youth to join LFSA

Anita Villani, MD, MSc, from SickKids Foundation, presented on latest research related to the risk related to therapy-related subsequent cancers in those with germline TP53 variants. She noted current guidelines recommend limiting the use of ionizing radiation in both cancer screening

The team at deCODE genetics have done it again 👏👏👏

Can people be ‘inoculated’ against misinformation? Science | Control of information controls representative democracy, one of the great political challenges in the 21st century. How can we recognise truth? science.org/content/articl…

Happy AEC appreciation day to all who observe

🧬 This Genetic Counsellor Awareness Day, we celebrate and acknowledge the dedication and compassion of genetic counsellors across Australasia. Thank you for your invaluable support! #ThankYouGCs #GCAwarenessDay #ANZGeneticCounsellors