🤗 Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ 👶🧬

👉 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

📣And out now in Genetics in Medicine:

How do we best support choices when offering #genomic screening? @ausgenomics.bsky.social

Check out our 2-step model👇
doi.org/10.1016/j.gi...

Terrific collab @yvonnebombard.bsky.social & GeneticsAdviser! 🇨🇦🇦🇺 @genetic-fi.bsky.social @stephaniebest.bsky.social

📣 Out now in Genetics in Medicine:

Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺

👉 authors.elsevier.com/a/1kDPZ3vlFV...

Broad analysis and functional genomics for best outcomes 🏆

@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social