Terrific to see this out! 10 years of variant interpretation courses delivered to >1000 participants 👏👏👏 And of course thoroughly evaluated 😁🇦🇺

📣New from Nisselle & co! 📄Variant interpretation training for the #genomics era: Learning outcomes to inform professional competencies and education

Adding genomic testing to newborn screening programs can expand them to cover hundreds of conditions and is getting closer to reality, with multiple pilot studies internationally publishing early results. Read more: buff.ly/7Of91pS

Genomic Newborn Screening: Commodity or Public Good? onlinelibrary.wiley.com/doi/10.5694/... What's next for genomic NBS in Australia? Commercial testing? Publicly funded program? Large scale research to build capacity, infrastructure and evidence? We discuss the options & ethics ⚖️ @mja.com.au

The government can’t claim that medical research is a priority while failing to treat it as one. Nine in 10 leading researchers in Australia are missing out on government support for world‑class proposals, leaving exceptional talent uncertain about their future.

Reading “The 5 stages of the ‘enshittification’ of academic publishing” theconversation.com/the-5-stages...

📣 New from Anderson et al! 📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

How can we measure the value of #genomics in #healthcare? How can #HTA, #implementation & data management be adapted to suit the rapidly evolving nature of genomics? For insights, read the Review from Zornitza Stark, Ilias Goranitis & colleagues. https://www.nature.com/articles/s41591-025-04061-3

Does #genomics work? How do we know? Really thoughtful piece full of insights and proposals, highlighting the many positives - and some negatives - that need to be included in models of appraisal. At least one thing is clear: We the need to take the long view.

Determining the value of genomics in healthcare” is now published in Nature Medicine. Led by A/Prof Ilias Goranitis, the paper brings together international co-authors to examine how the value of genomics can be assessed. Read the full article: www.nature.com/articles/s41...

In this Nature Medicine paper, we draw from our experiences in evaluating and implementing #genomics in Australia, Canada, England, Hong Kong and the US www.nature.com/articles/s41...

www.nature.com/articles/s41... 🔥🔥🔥 Is genomics value for money??? 🧬💰 👉 How do we define it? 👉 Measure it? 👉 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

New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬 A big step for precision medicine! www.nature.com/articles/s41...

Terrific to finally see this out @natgenet.nature.com, what a great collaboration to have been part of, massive congrats @noalipstein.bsky.social and team 👏👏👏

Awesome work by @zornitza.bsky.social and collaborators showing the immediate value of WGS for newborn screening in a cohort of 1,000 Australian babies. Now we need larger, more diverse cohorts to show this approach can achieve population scale!

A study on genomic newborn screening found 1.6% of 1,000 infants had a high chance of a treatable genetic condition, only one of which was caught by standard screening. The model proved feasible, scalable, and highly acceptable to parents. 🧬💻 #MedSky

🤗 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

🔔 Final chance! Take our global survey on building #healtheconomics capacity in #genomicmedicine. Takes approx. 15 mins. Open to everyone working in genomic medicine. Deadline: End of August. q.surveys.unimelb.edu.au/jfe/form/SV_...

The UK Govt just released its 10 year plan for the NHS and it is legitimately ambitious and exciting. Genomic population health features heavily... on the cover even! assets.publishing.service.gov.uk/media/686638...

After a decade of collaboration and innovation, #AustralianGenomics has come to an end. A new national body, #GenomicsAustralia, was established on 1 July 2025 to provide leadership, coordination and expertise in health #genomics.

New paper by Mackley & co presents a framework to support genetic testing mainstreaming across specialities, with 4 models differentiated by when service delivery shifts to clinical genetic services. 🔗 Mainstreaming of clinical genetic testing: A conceptual framework; DOI: 10.1016/j.gim.2025.101465

Just published! ACMG SF v3.3 list for reporting of secondary findings in clinical #exome and #genome #sequencing. This 2025 update adds 3 genes - ABCD1, CYP27A1, and PLN - to the recommended minimum gene list with a description of the factors considered. #genetics bit.ly/40jQv3C

Hey Australian genetics/genomics friends: the OurDNA Symposium will be in Sydney on 14 August, just before the HGSA meeting. Learn more about inclusive recruitment for genomics and get a preview of the OurDNA variant browser! events.humanitix.com/ourdna-sympo...

Had a blast in Newcastle Uoon Tyne at #EIE25 learning and talking all things #implementation_science. Thrilled to have been awarded. the best poster. @stephaniebest.bsky.social @zornitza.bsky.social and Marlena Klaic

JCI - Another Fanconi anemia gene joins the club www.jci.org/articles/vie... Another one for you @diseasegenes.bsky.social! #morbidgene

Recently our team conducted two #DCEs as part of the BabyScreen+ program to elicit the Australian public’s preferences, values, and priorities for genomic newborn screening (gNBS) and its implementation. Read more here: sciencedirect.com/science/arti...

Wonderful to see our paper on the #Value and #Implementation of #Genomic_Newborn_Screening published in @ajhgnews.bsky.social #BabyScreen+ #HealthEconomics #DCE

📣New today! 📄Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia 🧑‍🤝‍🧑 @iliasgoranitis.bsky.social @zornitza.bsky.social & co

What does the Australian public think about the value and implementation of genomic NBS? 🧬👶⚖️ @ajhgnews.bsky.social @iliasgoranitis.bsky.social @stephaniebest.bsky.social @genomeseb.bsky.social @genetic-fi.bsky.social #raredisease #genomics #healtheconomics www.sciencedirect.com/science/arti...

Also many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺

Missed a presentation at #eshg2025? Do not worry as all talks will be available on-demand until November 30, 2025!

🤗🤗🤗🇦🇺🇦🇺🇦🇺 And absolutely thrilled to see @dgmacarthur.bsky.social deliver the @eshg.bsky.social Award Lecture #ESHG2025!!! 🇦🇺🇦🇺🇦🇺 So incredibly well deserved!!!

#ESHG2025 extraordinary to be listening to Katalin Kariko deliver this year’s Mendel lecture! @eshg.bsky.social

Kym Boycott #ESHG2025 What is matchmaking One? Two? Zero? sided Why do we do it (see the photo below ☺️) 👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange ❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better

Kym Boycott #ESHG2025 Disease-Gene discoveries are falling 😲 Don't tell @DiseaseGenes bot! 🤖 #MorbidGene In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy

#ESHG2025 now on in Gold: always wonderful to listen to Kym Boycott and the evolution of gene discovery #raredisease

Now on in Gold: @jbuchanan-ox.bsky.social and one of my favourite topics #ESHG2025 — measuring the economic value of #genomics

@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025 >250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable! Pre-print now out: www.medrxiv.org/content/10.1... Talos is #portable #opensource: github.com/populationge...

Zornitza Stark @zornitza.bsky.social #ESGH2025 🤖 TALOS automatically and iteratively re-reviews genomes and exomes (including CNVs/SV on historic data) focus on specificity - only 0.7 candidates /trio Diagnostic yield is 5%, 248/4,744 - higher in older cases 9% 2019 4% 2022

#ESHG2025: has social media broken scientific knowledge sharing? Come and join us at Sequencing Square at 1415! @jamesfasham.bsky.social @psychgenomics.bsky.social @ritabmatos.bsky.social

Dr Dani Hock from @dstroudlab.bsky.social presenting on #RDMassSpec in diagnosis of #raredisease in the Multiomics session #ESHG2025

Looking for a workshop at 14:15? #ESHG2025 Since you're currently reading this, how about... "Has social media broken scientific knowledge sharing?" - subject experts, lively debate, audience engagement 📍 Sequencing Square (↗️ turn right as you enter exhhibitor hall)

Legged it over to Space 3 #ESHG2025 for the late breaking abstract session and a sense of deja vu from Berlin #ESHG2024 with @nickywhiffin.bsky.social presenting more beautiful RNU4-2 work!

Too much great stuff on this morning #ESHG2025, on at sequencing square: lightening poster talks! @genomeseb.bsky.social now presenting results from the BabyScreen+ study

Should be an exciting session this morning in Brown 3 #Eshg2025 discussing the latest in genomic newborn screening. Kicking off is the amazing @zornitza.bsky.social with an interactive hot topic session on what conditions to include.

@zornitza.bsky.social opening a well-attended Newborn Screening session with a talk on choosing conditions Subjectivity in application of widely agreed inclusion criteria leads to small overlap (55 genes) pubmed.ncbi.nlm.nih.gov/38275146/

🗣️ Quote of #ESHG2025 (so far) "Who licks bone !?!" 🦴 - Johannes Krause Anyone have that on your bingo card? Well apparently archeologists do, to distinguish bone from stones and it causes problems in DNA sequencing. 🤔

Who licks bones found in excavation sites? Archaeologists! To test if it's a bone or a stone. Johannes Krause at #eshg2025 on tackling modern human DNA contamination of samples from archaeological sites.

Can we make a hashtag for #SciandGelato #ESHG2025? Gelato on me if you have a count for the number of times @ahoischen.bsky.social mentioned gelato in his talk.

Next up in Gold: @khmiga.bsky.social it’s time to modernize the reference genome! #ESHG2025