Zornitza Stark

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study - Nature Medicine The BabyScreen+ study offered genomic screening to 1,000 newborns in Australia, and showed that the approach is feasible and positively received by families, leading to molecular diagnoses in 1.6% of…

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...

Home — Australian Genomics

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

OurDNA Symposium 2025: Partnering for impact The OurDNA Symposium brings stakeholders together for important conversations about building the foundation for equitable genomics in Australia.

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

Yay, welcome to @bsky.app @diseasegenes.bsky.social have been missing you!!!

Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia Genomics will potentially transform newborn screening programs globally. To inform implementation, we surveyed 2,509 members of the Australian public to understand the importance they place on key asp...

📣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

Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia Integrating genomic sequencing into newborn screening (NBS) has transformative potential for the identification and management of genetic conditions. …

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