emilydebortoli.bsky.social
@emilydebortoli.bsky.social
PhD candidate & research genetic counsellor🧬 (she/her)
@IGM_group
🚨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
August 1, 2025 at 1:41 AM
Reposted
@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...
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...
www.jaci-inpractice.org
June 23, 2025 at 8:46 AM
Reposted
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 🙌
May 27, 2025 at 12:22 PM
🌟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...
May 6, 2025 at 12:40 AM
Reposted
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
February 28, 2025 at 5:26 AM
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...
Cancer Australia has launched a National Framework for Genomics in Cancer Control🎉We're proud to have contributed to this framework, focused on improving access to equitable, culturally safe & evidence-based genomic testing in cancer care #genomics #cancer
www.canceraustralia.gov.au/key-initiati...
www.canceraustralia.gov.au
February 21, 2025 at 12:29 AM
Reposted
📢 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
February 9, 2025 at 11:10 PM
Reposted
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
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
doi.org
January 20, 2025 at 6:24 AM
Reposted
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
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 .
media.tenor.com
January 14, 2025 at 12:04 AM
Welcome to bluesky 🧬 @igmgroup.bsky.social

All about genetic counselling, ELSI, mainstreaming, and implementation research- check it out!

@tatyanes.bsky.social
@amcinerney.bsky.social
WHO WE ARE
We value diversity. Our team brings together members from all walks of life, from different places, and with unique life and research experiences. We even have a few Y chromosomes! Together, we create a collaborative environment where varied perspectives drive innovation.
#genechat
January 7, 2025 at 6:07 AM
📣📣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
December 9, 2024 at 3:02 AM