Zornitza Stark

Mainstreaming genomic testing for mitochondrial disease in Australia - European Journal of Human Genetics European Journal of Human Genetics - Mainstreaming genomic testing for mitochondrial disease in Australia

Proud to share this latest publication by our PhD student Dr Megan Ball on mainstreaming genomic testing for #mito disease in Australia. Pleasure collaborate with @zornitza.bsky.social @thorburnmito.bsky.social and John Christodoulou supporting Megan in her studies.
www.nature.com/articles/s41...

An impressive win resolving uncertainty for families and clinicians 🏆 work partly funded by the Australian Functional Genomics Network 🤩🇦🇺🧬🐟

Fantastic opportunity and a brilliant team 🤩!

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

Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education Clear professional competencies and career pathways in variant interpretation (VI) are lacking. We co-developed learning outcomes in VI and describe how these can inform education and competencies acr...

📣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? Genomic newborn screening (gNBS) can screen for a broad range of genetic conditions, potentially enabling early treatment and improving health outcomes. However, it remains outside publicly funded pr...

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

Most researchers miss out on innovation grants while medical fund sits on $25b Nine in 10 Australian researchers had their “ideas grant” applications rejected last year, even as Australia’s medical investment fund sits on $5 billion more than it was designed to hold.

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.

The 5 stages of the ‘enshittification’ of academic publishing Academic publishing now shows the same decline that has hit social media and online marketplaces.

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

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder De novo variants in KDM2A cause a syndromic neurodevelopmental disorder with a phenotypic spectrum of mild to severe developmental delay, feeding difficulties, short stature, microcephaly, and recurre...

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

Determining the value of genomics in healthcare - Nature Medicine Assessing the value of genomics is key to informing evidence-based policies; this Review outlines how current approaches to health technology assessment, implementation and data management can be adapted to suit the rapidly evolving technology and evidence base.

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...

Determining the value of genomics in healthcare - Nature Medicine Assessing the value of genomics is key to informing evidence-based policies; this Review outlines how current approaches to health technology assessment, implementation and data management can be adap...

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

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database - Nature Communications Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…

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!

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