Amazing work from @zornitza.bsky.social and team!! πππ
Amazing work from @zornitza.bsky.social and team!! πππ
www.nature.com/articles/s41...
π₯π₯π₯ Is genomics value for money??? π§¬π°
π How do we define it?
π Measure it?
π And deliver it?
rdcu.be/eR243
@iliasgoranitis.bsky.social @stephaniebest.bsky.social @hadleyssmith.bsky.social @rich-genomics.bsky.social @jbuchanan-ox.bsky.social @rdexeter.bsky.social
π€ Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ πΆπ§¬
π www.nature.com/articles/s41...
1,000 babies
WGS using existing cards
600+ conditions
13 day TAT
16 diagnoses (vs 1 in std NBS)
High clinical impact
High parental acceptability
Amazing work from @zornitza.bsky.social & team!! ππβοΈβοΈ
Join us at the 2025 KidGen Kidney Genetics Symposium in Perth at the ANZSN 60th Congress on Sat 30th August!! π«π§¬π§«π¬π₯Όπ©Ί
Register here ππ
www.eventbrite.com.au/e/kidgen-sym...
The @springernature.com BMC Nephrology Image Collection is now open!! Submit before 1st Nov 2025 ππ
www.biomedcentral.com/collections/...
π§¬Introducing our first-ever handbook of genetic nephrology, with free download until 8/2025
authors.elsevier.com/a/1lSgWzcYo6...
@andrewmallett8.bsky.social and I saw a gap in foundational reading of genetic nephrology and decided to gather articles that clinician and learners can all enjoy
Stellar work which is continuing to define the cutting edge AND benefit patients every single day ππππ
Thrilled to share with @andrewmallett8.bsky.social our Study Protocol in @frontiersin.bsky.social on streamlining QA/Audit & unlocking health data!
We detail AQuIRE (governance) & the RDL (secure data access) - working together for responsible QI innovation π€
π Paper: doi.org/10.3389/fdgt...
Successful integration of #genomics into healthcare needs whole-of-system change, a departure from traditional research models, & a strong multi-disciplinary approach.
Key lessons from #AustralianGenomics are highlighted in @natmedicine.bsky.social
@zornitza.bsky.social @stephaniebest.bsky.social
As @ausgenomics.bsky.social comes to an end: what have we learned? π¦πΊπ§¬ @naturemedicine.bsky.social
π rdcu.be/eeuAN
Change is hard! Key for success: working across disciplines; jurisdictions; and all leadership levelsπ
@stephaniebest.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social
How do we measure the value of #genomics for #policy decisions? Check out our new GUV scale!
π www.valueinhealthjournal.com/article/S109...
π great collaboration @iliasgoranitis.bsky.social @andrewmallett8.bsky.social @stephaniebest.bsky.social @zoefehlberg.bsky.social @ausgenomics.bsky.social
A fitting first post! πππ