Stephanie Best

🎉 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.

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

👏 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.

This is a very delayed repost! But the paper is worth the wait.
Great work @@zoefehlberg.bsky.social 👏

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

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.

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.

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

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.

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

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.

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

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

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

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...

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

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

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

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...

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

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

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...

📣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

a beach with a lot of people on it ALT: a beach with a lot of people on it

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...

📣 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.