Zornitza Stark
@zornitza.bsky.social
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Pinned
Zornitza Stark
@zornitza.bsky.social
· Oct 9
🤗 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
👉 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
An impressive win resolving uncertainty for families and clinicians 🏆 work partly funded by the Australian Functional Genomics Network 🤩🇦🇺🧬🐟
🧬New from Wirth et al!
📄SMN1 variants identified by false-positive #SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions
📄SMN1 variants identified by false-positive #SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions
SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions
Two different 4-base-pair deletions in SMN1 that cause a similar frameshift led to
false-positive SMA newborn screening results. Integrating genomic, functional, and
population data clarified diagnosi...
www.cell.com
February 13, 2026 at 8:05 AM
An impressive win resolving uncertainty for families and clinicians 🏆 work partly funded by the Australian Functional Genomics Network 🤩🇦🇺🧬🐟
Fantastic opportunity and a brilliant team 🤩!
Some exciting openings in Exeter for clinical academics (professor and senior lecturer). Come and shape the future of translational genomic medical research in the South West! Lovely place to work, lovely people to work with, and freedom to pursue great science... www.linkedin.com/jobs/view/43...
February 11, 2026 at 7:53 AM
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 😁🇦🇺
📣New from Nisselle & co!
📄Variant interpretation training for the #genomics era: Learning outcomes to inform professional competencies and education
📄Variant interpretation training for the #genomics era: Learning outcomes to inform professional competencies and education
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...
www.cell.com
February 5, 2026 at 9:11 AM
Terrific to see this out! 10 years of variant interpretation courses delivered to >1000 participants 👏👏👏 And of course thoroughly evaluated 😁🇦🇺
Reposted by Zornitza Stark
📣New from Nisselle & co!
📄Variant interpretation training for the #genomics era: Learning outcomes to inform professional competencies and education
📄Variant interpretation training for the #genomics era: Learning outcomes to inform professional competencies and education
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...
www.cell.com
February 4, 2026 at 3:43 PM
📣New from Nisselle & co!
📄Variant interpretation training for the #genomics era: Learning outcomes to inform professional competencies and education
📄Variant interpretation training for the #genomics era: Learning outcomes to inform professional competencies and education
Reposted by Zornitza Stark
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
Read more: buff.ly/7Of91pS
December 4, 2025 at 10:01 PM
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
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
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
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...
onlinelibrary.wiley.com
January 15, 2026 at 6:25 AM
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
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
Reposted by Zornitza Stark
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.
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.
www.theage.com.au
January 3, 2026 at 11:32 PM
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.
Reposted by Zornitza Stark
Reading “The 5 stages of the ‘enshittification’ of academic publishing”
theconversation.com/the-5-stages...
theconversation.com/the-5-stages...
The 5 stages of the ‘enshittification’ of academic publishing
Academic publishing now shows the same decline that has hit social media and online marketplaces.
theconversation.com
January 7, 2026 at 9:32 AM
Reading “The 5 stages of the ‘enshittification’ of academic publishing”
theconversation.com/the-5-stages...
theconversation.com/the-5-stages...
Reposted by Zornitza Stark
📣 New from Anderson et al!
📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
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...
www.cell.com
January 2, 2026 at 3:23 PM
📣 New from Anderson et al!
📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Reposted by Zornitza Stark
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
https://www.nature.com/articles/s41591-025-04061-3
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.
www.nature.com
December 2, 2025 at 12:30 PM
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
https://www.nature.com/articles/s41591-025-04061-3
Reposted by Zornitza Stark
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.
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.
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
🔥🔥🔥 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
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...
www.nature.com
December 1, 2025 at 6:08 PM
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.
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.
Reposted by Zornitza Stark
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...
Read the full article: www.nature.com/articles/s41...
November 27, 2025 at 10:16 PM
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...
Read the full article: www.nature.com/articles/s41...
Reposted by Zornitza Stark
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...
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...
www.nature.com
November 27, 2025 at 11:22 PM
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...
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
🔥🔥🔥 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
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...
www.nature.com
November 27, 2025 at 11:13 AM
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
🔥🔥🔥 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
Reposted by Zornitza Stark
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...
A big step for precision medicine!
www.nature.com/articles/s41...
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),…
www.nature.com
November 4, 2025 at 3:06 PM
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...
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 👏👏👏
New study by @noalipstein.bsky.social and Nils Brose, @mpi-nat.bsky.social links UNC13A gene variants to a new developmental disorder — offering insights into ALS and potential therapies. 👏
Read the full paper: www.nature.com/articles/s41...
Read the full paper: www.nature.com/articles/s41...
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function - Nature Genetics
Pathogenic variants in UNC13A underlie a novel neurodevelopmental syndrome, with three subtypes defined by distinct genotypes with varying clinical and functional impacts characterized in cellular and...
www.nature.com
October 24, 2025 at 2:17 AM
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 👏👏👏
Reposted by Zornitza Stark
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!
🤗 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
👉 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
October 14, 2025 at 9:54 PM
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!
Reposted by Zornitza Stark
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
🧬💻 #MedSky
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…
www.nature.com
October 10, 2025 at 3:06 PM
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
🧬💻 #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
👉 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
October 9, 2025 at 8:03 PM
🤗 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
👉 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
Reposted by Zornitza Stark
🔔 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
August 13, 2025 at 11:11 AM
🔔 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_...
Reposted by Zornitza Stark
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...
July 4, 2025 at 2:45 AM
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...
Reposted by Zornitza Stark
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.
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
July 1, 2025 at 12:12 AM
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.
A new national body, #GenomicsAustralia, was established on 1 July 2025 to provide leadership, coordination and expertise in health #genomics.
Reposted by Zornitza Stark
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
🔗 Mainstreaming of clinical genetic testing: A conceptual framework; DOI: 10.1016/j.gim.2025.101465
June 26, 2025 at 12:56 AM
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
🔗 Mainstreaming of clinical genetic testing: A conceptual framework; DOI: 10.1016/j.gim.2025.101465
Reposted by Zornitza Stark
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
June 26, 2025 at 1:52 PM
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
Reposted by Zornitza Stark
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
June 23, 2025 at 1:03 AM
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...