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Are we ready for #genomic newborn screening? 👶🧬🌏 #RareDisease As multiple large studies launch internationally, Richard Scott and I review the evidence and gaps that now need to be addressed to inform policy 📣Out now in Nature Reviews Genetics 👉rdcu.be/dfF7u 🧵

Genomic newborn screening for rare diseases go.nature.com/3PxIkMH #Review by Prof Zornitza Stark & Richard Scott University of Melbourne Australian Genomics Murdoch Children's Research Institute (MCRI) Great Ormond Street Hospital for Children UCL Great Ormond Street Institute of Child Health Genomics England

PLEASE RT💜🧬: The final report of our genetic discrimination project is out today at doi.org/10.26180/23564… It makes clear recommendations to the Aus government to prohibit the use of genetic test results in risk-rated insurance underwriting. A thread about our findings... 1/5

A study into gene-based life insurance discrimination calls for new laws to protect Australians from having their genetic test results used against them. 🇦🇺🧬 doi.org/10.26180/23564… Dr Jane Tiller Paul Lacaze #genomics #research

Life course genomics: What does it mean for the future of healthcare? Leading researchers tackle some of the big issues at the Australian Genomics Summit in Melbourne today #AusGenomicsSummit #ICG2023 International Congress of Genetics 2023

Excited to be back in Melbourne for #AusGenomicsSummit #ICG2023 Australian Genomics International Congress of Genetics 2023 🇦🇺 great to see everyone in person again!

Beyond traditional genetic counseling: Kirsten Boggs Australian Genomics sharing her experience working with major #genomic projects including #AcuteCare #icg2023

A packed room for Prof Zornitza Stark for the Human Genetics Society of Australasia Sutherland lecture. Spectacular advances in #genomic diagnostics particularly in acute care implementation including some awesome effort in #education also. Seb Lunke Stephanie Best Sophie Bouffler #ICG2023

📢 Out now! Guidelines for #community #involvement in #genomic #research – providing researchers in Australia with practical information for involving community members effectively & meaningfully in research. 🧬🇦🇺 Read more 👉 australiangenomics.org.au/new-guidelines… #InvolveAustralia #Genomics

Which genes to include in #genomic newborn screening?🧬👶 Our BabyScreen+ list of 605 genes out now Genetics in Medicine and PanelAppAus 🇦🇺 Comparison with other gNBS studies: only 55 in common! 🌐Time to harmonise? gimjournal.org/article/S1098-… Seb Lunke Lilian Downie

Hot off the press: Our BabyScreen+ list of over 600 actionable genes and conditions that we screen for in our #gNBS pilot now published: gimjournal.org/article/S1098-… Thanks to the great work of Prof Zornitza Stark, Lilian Downie and many others.

👉 Out now in BMJ_Open our BabyScreen+ #genomic newborn screening study protocol 🧬👶 👉bmjopen.bmj.com/content/14/4/e…

Read about our approach to implementing and assessing Genomic Newborn Screening in our BabyScreen+ protocol paper now out in BMJ_Open! bmjopen.bmj.com/content/14/4/e…

We detail our multidisciplinary approach to investigating the implementation of #genomic newborn screening. Complex health interventions need a whole team approach to optimise the value.

Out now Nature Medicine 🔥🔥 #genomic NBS: the challenges are daunting But we have a responsibility to lead research in public health systems 🇬🇧🇦🇺 Exeter Rare Disease Richard Scott Siddharth Banka Louise Fish Sarah Wynn Dominic Wilkinson James Buchanan Daniel MacArthur nature.com/articles/s4159…

Delighted this is out Genetics in Medicine 🤗🤗🤗 #education program in rapid #genomics ➡️ Modular design 📕📗📘 ➡️ National multidisciplinary delivery 👩‍⚕️👨‍⚕️ ➡️ Rigorous evaluation ✅ Modules freely available online Australian Genomics 🇦🇺👇 gimjournal.org/article/S1098-…

Excellent study on real life delivery of #genomic education

📣 📣 📣 Our new paper out today in Genetics in Medicine on Genetic Counselling in rapid genomic testing Link 👉 gimopen.org/article/S2949-…

👉 Out now Nature Reviews Genetics: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏 👉Best practice examples and 12 actions we can all take together 👉 rdcu.be/dWfsu GA4GH Australian Genomics Genomics England NHS Genomic Medicine Service AllofUsResearch UK Biobank Our Future Health

This 👇👇👇!!! I think data sharing is an absolute must, and can be done in a way that ensures privacy and patient autonomy while providing huge benefits to individuals, research and society. Even a small start is a start, let’s break down the silos. Please do!