cathyquinlan.bsky.social
Nephrologist | Genomics Leader | Academic @ RCH, MCRI & Uni Melbourne. Transforming kidney care for kids thru research & education while nurturing the next generation of healthcare professionals & clinician scientists #NephSky #MedSky #NephJC
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Genetic counselling considerations are such an important part of delivering genomics healthcare. I strongly believe we need to be empowering genetic counsellors to be more integrated in healthcare to scale up genomics. We wrote about this issue recently on @mja.com.au
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But the real bottleneck to scaling this up?
➡️ Our ability to counsel and consent patients properly.
➡️ Ensuring families understand the implications — for themselves & for their wider family - that's why I'm choosing #GeneticCounsellors for the WIN. 🧵 3/3
The science is ready. Are we ready? 👀
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Genomics has already transformed nephrology.
✅ We know which patients benefit
✅ We’ve got extensive gene panels
✅ Testing is affordable or funded in many countries
It’s precision medicine in action — and it's here now.
🧵 2/3
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A key point from the paper: CKD in kids is often invisible until it’s too late. We need to move from late-stage diagnosis to active case-finding and prevention.
Genomics, BP screening, early biomarkers—we have the tools. Now we need system-wide change to use them effectively. 🧵4/4
#rarediseaseday
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Early detection matters - identifying at-risk children early =slower disease progression = improve LT outcomes
My colleague @tomforbes.bsky.social just published a great editorial on this case, covering neonatal screening to adolescent risk. 🧵 3/4
🔗 www.sciencedirect.com/science/arti...
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Last week at #IPNA2025 in Cape Town, I ran a renal genetics workshop with an incredible group of paediatric nephrologists.
The enthusiasm was amazing—but so were the challenges. The global disparity in access to genetic testing is stark. Kids in some regions still can’t get a diagnosis. 🧵 2/4
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❤️Sphyg too high on the wall
⭐️Unable to support their back when sitting if <9-ish yo
❌Freq crossed legs
💬Paeds just keep chatting
💪No arm support
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This is one of my biggest bugbears with how our clinic rooms are set up - it is actually impossible to do an accurate blood pressure on most of our patients.
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Fantastic to be joined by such #Nephmadness paediatric aristocracy as Matt Sampson, Clodagh Sweeney and of course Michelle Rheault!
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5️⃣ Could this apply beyond nephrology? Absolutely! This is a blueprint for using digital health and AI in proactive medicine. So proud of Gráinne & our team! 💡 including
Sana, Josiah, Ahuva, Joshua, Ella, Yoni, & Jim.
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3️⃣ Early diagnosis = better outcomes – These kids are now on nephroprotective treatments years earlier, potentially delaying kidney failure. 🚀
4️⃣ But EMR integration is still a challenge – This study highlights both the promise and barriers of using digital tools for early disease detection.
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2️⃣ We used microscopic haematuria as an early flag, reaching out to families and offering genomic testing. Five kids + two family members diagnosed with Alport syndrome! 🩺 link.springer.com/article/10.1...
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Nephrologists, geneticists, genetic counsellors, and renal nurses all contributed, showing that collaboration drives real-world change in genomic medicine. Could this apply beyond nephrology? Absolutely! Embedding genomics into clinical workflows is a model that can benefit multiple specialties.
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Our approach? Combine 25 real-world clinical strategies with 10 implementation science strategies to create a sustainable framework for genomic testing in routine kidney care. Interdisciplinary teamwork was key!
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We identified 34 barriers that hold back genomics in nephrology—from nephrologists’ lack of confidence to workflow bottlenecks. Solutions had to be practical and scalable - always great to work w/ @zornitza.bsky.social @stephaniebest.bsky.social Kushani Jayasinghe and Nathasha Kugenthiran