Stephanie Best
@stephaniebest.bsky.social
Interested in all things implementation and improvement research.
In Melbourne via Wales
In Melbourne via Wales
👏 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 paper brings together a wide range of findings that provide real world evidence to inform future directions for gNBS.
🤗 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 10, 2025 at 5:23 AM
👏 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 paper brings together a wide range of findings that provide real world evidence to inform future directions for gNBS.
Reposted by Stephanie Best
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
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
July 8, 2025 at 11:12 PM
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
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
doi: 10.1186/s43058-024
Important for us to continue critiquing how we consider research outcomes.
@Zornitza and Marlena Klaic
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
June 9, 2025 at 9:53 PM
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
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.
Congrats to @iliasgoranitis.bsky.social and @zornitza.bsky.social and team.
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...
@ajhgnews.bsky.social
@iliasgoranitis.bsky.social @stephaniebest.bsky.social @genomeseb.bsky.social @genetic-fi.bsky.social
#raredisease #genomics #healtheconomics
www.sciencedirect.com/science/arti...
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. …
www.sciencedirect.com
May 28, 2025 at 8:51 PM
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.
Congrats to @iliasgoranitis.bsky.social and @zornitza.bsky.social and team.
Reposted by Stephanie Best
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
March 18, 2025 at 3:03 AM
The longtime director of the National Human Genome Research Institute is stepping down, as the larger NIH braces for more changes.
Reposted by Stephanie Best
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
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
March 24, 2025 at 4:19 AM
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
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.
Leadership, collaborative networks and a wide geographical reach are all critical.
Read more at the link below.
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
👉 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
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
March 24, 2025 at 5:10 AM
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.
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.
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
March 6, 2025 at 5:40 AM
Thanks for heading down to Melbourne! It was great to see you all.
Reposted by Stephanie Best
Another excellent #collaboration to have been part of! #raredisease 🧬🔍
📣Online now!
📄Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
📄Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
We identify bi-allelic variants in the mitoribosomal large subunit encoded by MRPL49
as a cause of a pleiotropic presentation of hearing loss, ovarian failure, learning
disability, and leukodystrophy ...
www.cell.com
March 6, 2025 at 2:21 AM
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
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
February 13, 2025 at 7:28 AM
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
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
Reposted by Stephanie Best
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
📢 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
📅 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
February 4, 2025 at 9:03 AM
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
Reposted by Stephanie Best
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
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...
www.australiangenomics.org.au
December 19, 2024 at 5:20 AM
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
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
Great team!
@zornitza.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social @zoefehlberg.bsky.social
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
👉 www.valueinhealthjournal.com/article/S109...
👏 great collaboration @iliasgoranitis.bsky.social @andrewmallett8.bsky.social @stephaniebest.bsky.social @zoefehlberg.bsky.social @ausgenomics.bsky.social
A Standardized Measurement and Valuation Scale of Genomic Utility for Policy Decisions: The GUV Scale
The multifaceted ways in which genomics can be valuable to clinicians, patients, families,
and society are important for informing prioritization decisions by policy makers.
This study aims to develop...
www.valueinhealthjournal.com
January 13, 2025 at 9:31 AM
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
Great team!
@zornitza.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social @zoefehlberg.bsky.social
Reposted by Stephanie Best
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
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
Redirecting
doi.org
January 13, 2025 at 5:40 AM
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
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
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
December 19, 2024 at 12:58 AM
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
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
Reposted by Stephanie Best
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...
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
November 27, 2024 at 6:12 AM
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...
We explored the geographic distribution of rare disease #genomic testing across Australia 🧬. Take a peak!
doi.org/10.1038/s414...
Reposted by Stephanie Best
📣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
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
December 16, 2024 at 6:14 AM
📣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
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
Reposted by Stephanie Best
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
December 6, 2024 at 12:22 AM
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...
Reposted by Stephanie Best
📣 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
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
December 9, 2024 at 6:22 AM
📣 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
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.
This is the paper for you.
Congratulations to @scasauria16.bsky.social for seeing this, long in the making, study to publication.
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...
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
November 27, 2024 at 8:52 PM
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.
This is the paper for you.
Congratulations to @scasauria16.bsky.social for seeing this, long in the making, study to publication.