🌀 It's that time again #NephMadness! These are my picks as a paediatric nephrologist with a career focus on genetics, blood pressure & prevention 💥🧬💉
Some tight matchups this year — but here's why #geneticcounselling got my vote 🧵 1/3

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

1️⃣ Now this is amazing! 🎉 My PhD student Gráinne Butler led a groundbreaking study using Epic EMR data to detect genetic kidney disease before symptoms appeared!

The diagnostic yield of genetics for isolated haematuria is high 50% when cherry-picked and around 10% in population (not yet published), you can do all sorts of urinalysis with rebates. USS for cystic disease are v non-specific and frequently completely non-diagnostic but rebateable generally

Genetic testing for children with glomerular disease is cheaper and has a higher diagnostic yield than a biopsy - even with a higher baseline cost of testing. Close in adults too.

2/5 The study used an LLM-based system at UCSD Health that ingests EHR data in FHIR format and outputs SEP-1 abstractions. Tested on 100 cases, with accuracy compared to human abstractors✨ This robust design allowed for a real-world look at how AI matches up with manual reporting! #nephsky #medsky

The visual explainer is part of a package of wrap-around support for non-genomic clinicians using genomics in mainstreamed practice - including decision support, patient info sheets & consent movies - all available online at KidneyGenomics.org.au
Thanks to MCRI and Melbourne Genomics
🧵2/2

🧬 Navigating genetic testing for patients with kidney disease? Check out our new, evidence-based decision-making framework! 📈
✅ Crafted from literature review, ethnographic observation & stakeholder insights by Inez Beadell
🔗 onlinelibrary.wiley.com/share/VHJDHG...

I’m not sure how many 🇦🇺 Aussies are presenting at #kidneywk but they could all learn from @emjsee about how to make beautiful, accessible slides that perfectly complement her delivery. A tour de force of how to use RAS/SGLT2 blockade in #AKI recovery 👏👏👏

The rumours are true - there really are socks for #FASN at member services! Just one more reason to LOVE #KidneyWk ❤️⭐️👏