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emilydebortoli.bsky.social @emilydebortoli.bsky.social · 01/08/2025

🚨New study exploring parents' experiences with mainstreamed genomic testing for immunology. 🔍Here's a snapshot of our findings lnkd.in/gZtJ_axB. 🌐This paper is part of our BRIDGE study lnkd.in/gDMVPCHW Thanks to all the families, co-authors and @tatyanes.bsky.social for leading this project

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Tatiane Yanes @tatyanes.bsky.social · 23/06/2025

@emilydebortoli.bsky.social An interesting article on genetic counselling in kidney disease. It’s great to see growing recognition of the GC role across healthcare! It echoes our recent work on GCs in inborn errors of immunity: 🔗 www.jaci-inpractice.org/article/S221...

jaci-inpractice.org

Genetic Counseling in Pediatric Inborn Errors of Immunity: Perspective Piece on Current Practice and Considerations

Genomic testing is now an essential part of diagnosing and treating individuals with inborn errors of immunity (IEI). With most IEI presenting in childhood, innovative models of care are needed to ens...

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Integrating Genomics into Medicine @igmgroup.bsky.social · 27/05/2025

A massive congratulations to @emilydebortoli.bsky.social presenting on parents’ experiences with paediatric inborn errors of immunity, highlighted the lasting distress, social isolation, satisfaction with mainstream genomic testing, and unmet needs that require further attention 🙌

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emilydebortoli.bsky.social @emilydebortoli.bsky.social · 06/05/2025

🌟Thrilled to share my first PhD piece A perspective on the value of embedding genetic counsellors in paediatric immunology - bringing knowledge & skills to enhance the integration of genomic testing into care. Huge thanks to the incredible team of co-authors www.jaci-inpractice.org/article/S221...

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Integrating Genomics into Medicine @igmgroup.bsky.social · 28/02/2025

Amazing time at our 3rd away day with our fantastic team (minus a few!). We celebrated our wins over the past year, reflected on our leadership styles, and fine-tuned our pitching skills to take us through 2025. Exciting to see how far we've come and looking forward to what’s ahead! 🚀 #genechat

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emilydebortoli.bsky.social @emilydebortoli.bsky.social · 21/02/2025

A big step forward for genomics in cancer care! Check out Cancer Australia's new National Framework for Genomics in Cancer Control👏 🧬 #genomics #cancercare bsky.app/profile/igmg...

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Integrating Genomics into Medicine @igmgroup.bsky.social · 09/02/2025

📢 Don't miss @tatyanes.bsky.social at the Frazer Institute Seminar, 12 Feb, 9:30 at #TRI! She'll share insights from the #BRIDGEstudy on improving genomic testing & support for families affected by paediatric Inborn errors of immunity. #genechat @tatyanes.bsky.social @emilydebortoli.bsky.social

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Integrating Genomics into Medicine @igmgroup.bsky.social · 20/01/2025

Weekly highlights include "Utility of genomic testing in children, adolescents, and young adults with cancer". This informs Aus's 1st national framework for genomics in cancer control being developed by Cancer Australia 📜 #Genechat @amcinerney.bsky.social ➡️https://doi.org/10.1093/jnci/djae233

doi.org

Utility of genomic testing in children, adolescents, and young adults with cancer

Abstract. Genomic testing can inform the diagnosis and personalize management of cancers in children, adolescents, and young adults (CAYA). This scoping re

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Integrating Genomics into Medicine @igmgroup.bsky.social · 14/01/2025

Starting the year by celebrating our team's achievements! 🎉 Throughout January, we will showcase the research we published last year—a feat of team work & collaboration. Stay tuned for more in 2025! 💡 #Genechat

media.tenor.com

two men in suits and ties are standing next to each other and one of them is wearing a party hat that says teamwork .

ALT: two men in suits and ties are standing next to each other and one of them is wearing a party hat that says teamwork .

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emilydebortoli.bsky.social @emilydebortoli.bsky.social · 07/01/2025

Welcome to bluesky 🧬 @igmgroup.bsky.social All about genetic counselling, ELSI, mainstreaming, and implementation research- check it out! @tatyanes.bsky.social @amcinerney.bsky.social

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emilydebortoli.bsky.social @emilydebortoli.bsky.social · 09/12/2024

📣📣New review in JNCI on the "Utility of Genomic Testing in Children, Adolescents, & Young Adults with Cancer" This paper informs Australia's first national framework for genomics in cancer control, currently being developed by Cancer Australia📜 🧬 Check it out here: lnkd.in/gdyM4BsE

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