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Reposted by Zornitza Stark

IHEA Econ-Omics SIG @ihea-econ-omics.bsky.social · Aug 13

🔔 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_...

Qualtrics Survey | Qualtrics Experience Management

The most powerful, simple and trusted way to gather experience data. Start your journey to experience management and try a free account today.

q.surveys.unimelb.edu.au

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Mike Inouye @mikeinouye.bsky.social · Jul 4

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...

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Australian Genomics @ausgenomics.bsky.social · Jul 1

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.

Home — Australian Genomics

www.australiangenomics.org.au

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GCR Connect @gcr-connect.bsky.social · Jun 26

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

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ACMG @theacmg.bsky.social · Jun 26

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

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Daniel MacArthur @dgmacarthur.bsky.social · Jun 23

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...

OurDNA Symposium 2025: Partnering for impact

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

events.humanitix.com

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Zoe Fehlberg @zoefehlberg.bsky.social · Jun 7

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

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Zornitza Stark @zornitza.bsky.social · Jun 3

JCI - Another Fanconi anemia gene joins the club www.jci.org/articles/vie...

Another one for you @diseasegenes.bsky.social! #morbidgene

JCI - Another Fanconi anemia gene joins the club

www.jci.org

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Reposted by Zornitza Stark

Economics of Genomics and Precision Medicine Unit @eigen-uom.bsky.social · Jun 1

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...

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Ilias Goranitis @iliasgoranitis.bsky.social · May 29

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

The American Journal of Human Genetics @ajhgnews.bsky.social · May 28

📣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

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...

www.cell.com

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Zornitza Stark @zornitza.bsky.social · May 29

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

Reposted by Zornitza Stark

The American Journal of Human Genetics @ajhgnews.bsky.social · May 28

📣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

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...

www.cell.com

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Zornitza Stark @zornitza.bsky.social · May 28

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...

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. …

www.sciencedirect.com

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Alex Hoischen @ahoischen.bsky.social · May 27

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 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺

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Reposted by Zornitza Stark

European Society of Human Genetics @eshg.bsky.social · May 27

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

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Zornitza Stark @zornitza.bsky.social · May 27

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

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Zornitza Stark @zornitza.bsky.social · May 27

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

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James Fasham @jamesfasham.bsky.social · May 27

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

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James Fasham @jamesfasham.bsky.social · May 27

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

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Zornitza Stark @zornitza.bsky.social · May 27

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

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Zornitza Stark @zornitza.bsky.social · May 26

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

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GenomeSeb @genomeseb.bsky.social · May 26

@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...

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Reposted by Zornitza Stark

James Fasham @jamesfasham.bsky.social · May 26

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

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Zornitza Stark @zornitza.bsky.social · May 26

#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

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Prof Gina Ravenscroft🇿🇦🇦🇺 @ginaravenscroft.bsky.social · May 26

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

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