🎉 Fantastic to be part of this Nature Medicine article. We take an international perspective of value and implementation of genomics in healthcare. 🎊Always fabulous to collaborate with Prof @zornitza.bsky.social and Prof Ilias Goranitis and the wider global team.

Zornitza Stark@zornitza.bsky.social · 11mo ago

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

It was a privilege to be part of this important international effort. How should we determine the value of genomics in healthcare?

Zornitza Stark@zornitza.bsky.social · 11mo ago

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

👏 congratulations @zornitza.bsky.social and team. Great to have had the opportunity to work on this study with you. 🖨 This paper brings together a wide range of findings that provide real world evidence to inform future directions for gNBS.

Zornitza Stark@zornitza.bsky.social · last yr.

🤗 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

Health equity & imp sci go hand in hand. Our paper proposes how cultural adaptation in public health innovation can be enhanced by 5 imp sci approaches I am grateful to kick off my PhD and have the wisdom of @stephaniebest.bsky.social Samantha Croy & Marlena Klaic lnkd.in/ggwBy9_h #equity #impsci

Very excited by @zoefehlberg.bsky.social poster on #impsci and #genomics at the European Implementation Event 2025. doi: 10.1186/s43058-024 Important for us to continue critiquing how we consider research outcomes. @Zornitza and Marlena Klaic

Zoe Fehlberg@zoefehlberg.bsky.social · last yr.

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

Great to see this paper out and sharing the views of the general public on #genomic newborn screening. Congrats to @iliasgoranitis.bsky.social and @zornitza.bsky.social and team.

Zornitza Stark@zornitza.bsky.social · last yr.

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...

The longtime director of the National Human Genome Research Institute is stepping down, as the larger NIH braces for more changes.

Eric Green is out as head of National Human Genome Research Institute

The longtime director of the National Human Genome Research Institute is stepping down, as the larger NIH braces for more changes.

buff.ly

Successful integration of #genomics into healthcare needs whole-of-system change, a departure from traditional research models, & a strong multi-disciplinary approach. Key lessons from #AustralianGenomics are highlighted in @natmedicine.bsky.social @zornitza.bsky.social @stephaniebest.bsky.social

Using implementation science to navigate the complexity of integrating genomics into healthcare

Nature Medicine - Australian Genomics led a country-level, longitudinal project to deliver and evaluate the impact of genomics in routine healthcare.

rdcu.be

We've looked back on the many many @ausgenomics.bsky.social #impsci projects to identify what will be useful for future implementation of #genomics. Leadership, collaborative networks and a wide geographical reach are all critical. Read more at the link below.

Zornitza Stark@zornitza.bsky.social · 2y ago

As @ausgenomics.bsky.social comes to an end: what have we learned? 🇦🇺🧬 @naturemedicine.bsky.social 👉 rdcu.be/eeuAN Change is hard! Key for success: working across disciplines; jurisdictions; and all leadership levels🏆 @stephaniebest.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social

Thanks for heading down to Melbourne! It was great to see you all.

Dr Courtney Wallingford@cwallingford.bsky.social · 2y ago

Our #PRS clinical implementation meeting was a huge success! Great discussions on clinical implementation and next steps. Big thanks to everyone who joined & the lovely hosting at @petermaccc.bsky.social ! #genechat @tatyanes.bsky.social @amcinerney.bsky.social

Another excellent #collaboration to have been part of! #raredisease 🧬🔍

The American Journal of Human Genetics@ajhgnews.bsky.social · 2y ago

📣Online now! 📄Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

Interested in #impsci and mainstreaming #genomics? This is the paper for you! rb.gy/h9nks7 We found * 34 barriers * 25 empirical and 10 complementary theoretical imp strategies Lin Cheng, Kushani Jayasinghe, @zornitza.bsky.social @cathyquinlan.bsky.social Nathasha Kugenthiran Melbourne Genomics

Are you a researcher or clinician with an interest in polygenic risk? Then join us for a free event where you will hear from research leaders in the field. The event aims to identify common challenges across project, established solutions and build research collaboration

Integrating Genomics into Medicine@igmgroup.bsky.social · 2y ago

📢 Free event alert! Join us at the Australian Polygenic Implementation Research Summit! 📅 3rd March 2025 📍 @petermaccc.bsky.social & Zoom Connect with experts, explore PRS research, & tackle key challenges in clinical implementation. 🔗 Register here: zoom.us/j/9882106217... #genechat

An #AustralianGenomics study looking at unmet needs of #genomic testing found that on a per capita basis the rate of testing was higher in some “remote” areas compared with major cities. Read more: www.australiangenomics.org.au/access-to-ge... @stephaniebest.bsky.social @scasauria16.bsky.social

Access to genomic testing? Depends where you live — Australian Genomics

In a continent like Australia with its vast remote regions you might expect that access to genomic testing was highest in major cities with large hospitals and other health services. And you’d be righ...

australiangenomics.org.au

Fantastic to see this work published. Determining value in #genomics is critical and our GUV scale has been rigorously developed to support analysis. Great team! @zornitza.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social @zoefehlberg.bsky.social

Zornitza Stark@zornitza.bsky.social · 2y ago

How do we measure the value of #genomics for #policy decisions? Check out our new GUV scale! 👉 www.valueinhealthjournal.com/article/S109... 👏 great collaboration @iliasgoranitis.bsky.social @andrewmallett8.bsky.social @stephaniebest.bsky.social @zoefehlberg.bsky.social @ausgenomics.bsky.social

GUV-scale New way to measure & score genomic utility on a 0-100% scale based on 5 policy priority indicators (clinical, diagnostic, economic, societal, and family utility) doi.org/10.1016/j.jv... @zornitza.bsky.social @stephaniebest.bsky.social @andrewmallett8.bsky.social @ausgenomics.bsky.social

Do you enjoy thinking through how #impsci outcomes are interconnected? Then this is the paper for you! doi.org/10.1186/s430... Led by @zoefehlberg.bsky.social & dream authorship team @zornitza.bsky.social & Marlena Klaic Out now in @implementsci.bsky.social #genomics, @ausgenomics.bsky.social

Blurring the lines: an empirical examination of the interrelationships among acceptability, appropriateness, and feasibility - Implementation Science Communications

Background Acceptability, appropriateness, and feasibility are established implementation outcomes used to understand stakeholders’ perceptions of an intervention. Further, they are thought to provide...

doi.org

Thrilled to announce that #research conducted with @stephaniebest.bsky.social, @ausgenomics.bsky.social and other amazing colleagues is now published! We explored the geographic distribution of rare disease #genomic testing across Australia 🧬. Take a peak! doi.org/10.1038/s414...

Assessing the unmet needs of genomic testing in Australia: a geospatial exploration - European Journal of Human Genetics

European Journal of Human Genetics - Assessing the unmet needs of genomic testing in Australia: a geospatial exploration

doi.org

📣And out now in Genetics in Medicine: How do we best support choices when offering #genomic screening? @ausgenomics.bsky.social Check out our 2-step model👇 doi.org/10.1016/j.gi... Terrific collab @yvonnebombard.bsky.social & GeneticsAdviser! 🇨🇦🇦🇺 @genetic-fi.bsky.social @stephaniebest.bsky.social

We are HIRING a postdoc! Are you into cardiovascular genomics? Does gene discovery and rare variants get you out of bed!? OMG, me too! Unfortunately i can't apply for this role, but YOU CAN! Come join our research lab at @garvaninstitute.bsky.social Sydney 🇦🇺 #genesky www.seek.com.au/Garvan-Insti...

a beach with a lot of people on it

ALT: a beach with a lot of people on it

media.tenor.com

📣 Out now in Genetics in Medicine: Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺 👉 authors.elsevier.com/a/1kDPZ3vlFV... Broad analysis and functional genomics for best outcomes 🏆 @ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social

Interested in mapping of #Genomic testing in Australia? This is the paper for you. Congratulations to @scasauria16.bsky.social for seeing this, long in the making, study to publication.

Sarah Casauria@scasauria16.bsky.social · 2y ago

Thrilled to announce that #research conducted with @stephaniebest.bsky.social, @ausgenomics.bsky.social and other amazing colleagues is now published! We explored the geographic distribution of rare disease #genomic testing across Australia 🧬. Take a peak! doi.org/10.1038/s414...