Zornitza Stark

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

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