Sophie Bouffler

[Seb Lunke @GenomeSeb]

This 👇👇👇!!! I think data sharing is an absolute must, and can be done in a way that ensures privacy and patient autonomy while providing huge benefits to individuals, research and society. Even a small start is a start, let’s break down the silos. Please do!

[Prof Zornitza Stark @ZornitzaS]

👉 Out now @NatureRevGenet: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏

👉Best practice examples and 12 actions we can all take together

👉 https://t.co/u81JZhxvfX

@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth

[Kirsten Boggs @KirniGC]

📣 📣 📣 Our new paper out today in @GIMJournal on Genetic Counselling in rapid genomic testing

Link 👉 https://t.co/9PY0Eb0sjh

[Stephanie Best @drstephbest]

Excellent study on real life delivery of #genomic education

[Prof Zornitza Stark @ZornitzaS]

Delighted this is out @GIMJournal 🤗🤗🤗

#education program in rapid #genomics

➡️ Modular design 📕📗📘

➡️ National multidisciplinary delivery 👩‍⚕️👨‍⚕️

➡️ Rigorous evaluation ✅

Modules freely available online @AusGenomics 🇦🇺👇

https://t.co/iLBtS4R2Pw

[Prof Zornitza Stark @ZornitzaS]

Out now @NatureMedicine 🔥🔥

#genomic NBS: the challenges are daunting

But we have a responsibility to lead research in public health systems 🇬🇧🇦🇺

@RDExeter @Rich_Genomics @smbanka @LouiseFish1 @swynn_unique @NeonatalEthics @jbuchanan_ox @dgmacarthur

https://t.co/GakK209knx

[Stephanie Best @drstephbest]

We detail our multidisciplinary approach to investigating the implementation of #genomic newborn screening.
Complex health interventions need a whole team approach to optimise the value.

[Seb Lunke @GenomeSeb]

Read about our approach to implementing and assessing Genomic Newborn Screening in our BabyScreen+ protocol paper now out in @BMJ_Open!

https://t.co/UobBRQ7cdU

[Prof Zornitza Stark @ZornitzaS]

👉 Out now in @BMJ_Open our BabyScreen+ #genomic newborn screening study protocol 🧬👶

👉https://t.co/VPbbqbHUtT

[Seb Lunke @GenomeSeb]

Hot off the press: Our BabyScreen+ list of over 600 actionable genes and conditions that we screen for in our #gNBS pilot now published: https://t.co/5wxV1EMBRn

Thanks to the great work of @ZornitzaS, @drlildownie and many others.

[Prof Zornitza Stark @ZornitzaS]

Which genes to include in #genomic newborn screening?🧬👶

Our BabyScreen+ list of 605 genes out now @GIMJournal and @PanelAppAus 🇦🇺

Comparison with other gNBS studies: only 55 in common!

🌐Time to harmonise?

https://t.co/3muvHdPcvr

@GenomeSeb @drlildownie

[Australian Genomics @AusGenomics]

📢 Out now! Guidelines for #community #involvement in #genomic #research – providing researchers in Australia with practical information for involving community members effectively & meaningfully in research. 🧬🇦🇺

Read more 👉 https://t.co/tquy0nIeBC

#InvolveAustralia #Genomics

[Prof Zornitza Stark @ZornitzaS]

Beyond traditional genetic counseling: @KirniGC @AusGenomics sharing her experience working with major #genomic projects including #AcuteCare #icg2023

[Bronwyn Terrill @bronwynterrill]

A packed room for @ZornitzaS for the @HGSAAustralasia Sutherland lecture. Spectacular advances in #genomic diagnostics particularly in acute care implementation including some awesome effort in #education also. @GenomeSeb @drstephbest @sophbouff #ICG2023

[Prof Zornitza Stark @ZornitzaS]

Excited to be back in Melbourne for #AusGenomicsSummit #ICG2023 @AusGenomics @Genetics2023 🇦🇺 great to see everyone in person again!

[Australian Genomics @AusGenomics]

Life course genomics: What does it mean for the future of healthcare? Leading researchers tackle some of the big issues at the Australian Genomics Summit in Melbourne today #AusGenomicsSummit #ICG2023 @Genetics2023

[Australian Genomics @AusGenomics]

A study into gene-based life insurance discrimination calls for new laws to protect Australians from having their genetic test results used against them.
🇦🇺🧬 https://t.co/niVjzvo542
@JaneMTiller @PaulLacaze #genomics #research

[Prof Zornitza Stark @ZornitzaS]

Are we ready for #genomic newborn screening?
👶🧬🌏 #RareDisease

As multiple large studies launch internationally, @Rich_Genomics and I review the evidence and gaps that now need to be addressed to inform policy

📣Out now in @NatureRevGenet
👉https://t.co/DXjrT5wh4l 🧵

[Dr Jane Tiller @JaneMTiller]

PLEASE RT💜🧬: The final report of our genetic discrimination project is out today at https://t.co/F0MB7MK8zj
It makes clear recommendations to the Aus government to prohibit the use of genetic test results in risk-rated insurance underwriting.
A thread about our findings...
1/5

[Nature Reviews Genetics @NatureRevGenet]

Genomic newborn screening for rare diseases https://t.co/n8udTLLFSe #Review by @ZornitzaS & @Rich_Genomics
@UniMelb @AusGenomics @MCRI_for_kids @GreatOrmondSt @UCLchildhealth @GenomicsEngland