IGM is hiring! 🎉

Join our team and work alongside @tatyanes.bsky.social and @amcinerney.bsky.social on impactful research focused on integrating genomics into medicine.

Learn more & apply 👇👇👇

#Genomics #GeneticCounselling #ResearchJobs #FrazerInstitute #TranslationalResearch

Support for the Queer and Trans community has never been so important! 🌈🫶💜 #PrideMonth

Great opening plenary by @andrewmallett8.bsky.social at #INSPIRD workshop on the lpioneering work from him and his team on integrating #GenomicTesting for #RenalDisease

#QueenslandHealth
#OfficeOfResearchInnovation
#JamesCookUniversity

Way to go Amy!! 👏

Congratulations Emily!! 👏👏👏
The whole @igmgroup.bsky.social is so proud! 🥰

Letter-NHMRC_IG_FTE_draft 12th of May 2025 RE: NHMRC Investigator Grant Scheme and part-time work Dear Steve and Frances, I am writing to urge the NHMRC to enable greater flexibility in the Investigator ...

If an 🇦🇺 #biomed researcher, 🙏 consider 📝 this letter to #NHMRC advocating for ⬆️ flexibility around part-time work with #investigatorgrants. This will go some way to reducing barriers encountered by those who work part-time, incl. women of young children #womeninSTEM docs.google.com/document/d/1...

Autistic perspectives on the moral and ethical considerations of genetic testing for autism - European Journal of Human Genetics European Journal of Human Genetics - Autistic perspectives on the moral and ethical considerations of genetic testing for autism

🚨I get to share another publication by an awesome mentees today! Mitch Hendry and Loryn Byres arent on here, but they led this fab content analysis study about perspectives of >300 Autistic people on genetic testing for autism www.nature.com/articles/s41... #GeneChat #AcademicSky 🧪 #ProudMentor

😂

Congratulations Sam Kahler on achieving your second PhD milestone at the University of Queensland 🎉🎉🎉
Prof Peter Soyer @clareprim.bsky.social Brigid Betz-Stablein and I are very proud of all you have achieved.
#FrazerInstUQ @igmgroup.bsky.social

Wouldn’t it be great if Australia branded itself as the ‘Smart Country’ by incentivising these great minds to join us, while also investing more funding in research to mitigate the risk of losing existing talented researchers?

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets Inherited cardiomyopathies, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies affect ∼1 in 200–500 in the population. Gen

Our paper now published! 🙌🏻🧬🫀

@alexbutters25.bsky.social
@k-jt.bsky.social
@njhenden.bsky.social
@dgmacarthur.bsky.social
@kathrynmcgurk.bsky.social @jamesware.bsky.social @sharday-penn.bsky.social @rdbagnall.bsky.social @garvaninstitute.bsky.social @escardio.bsky.social

doi.org/10.1093/eurh...

Devastating! 😔

So proud to have collaborated with @iliasgoranitis.bsky.social and Mackenzie Bourke on this excellent review which was part of our collaborative evidence review for Cancer Australia. 👏

A welcome addition to the literature: "Why Mental Health Literacy Can Improve STEM"

onlinelibrary.wiley.com/doi/full/10....

Here's my statement about the situation in the US, how its affecting science, & the psych genetics community specifically, & what it means for our conference. Please read & share. @pgcgenetics.bsky.social @kirahoeffler.bsky.social @mcintosh2001.bsky.social @jettyraventos.bsky.social #AcademicSky 🧪

I’m so grateful to have worked with you Courtney and Vaish @igmgroup.bsky.social and wish you both only the best in your new adventures. Thank you for all your hard work and creativity, and for being such a huge part of our team/family. I know we will still socialise and stay in touch #IGM4Life 🫶

Such an amazing day with these beautiful human beings and brilliant researchers.
We were inspired by awesome workshops with Peter Ferreira and @dougaledwards.bsky.social
🌟🙌🌟
Feeling incredibly lucky to lead this group with @tatyanes.bsky.social

@CancerAustralia has now launched the National Framework for Genomics in Cancer Control. www.canceraustralia.gov.au/key-initiati...

It was an honor to lead the #healtheconomics component of the evidence review that informed the development of this framework. Access it through link ⬇️

Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023 European Journal of Human Genetics - Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014–2023

What happens when #genomic testing is funded?🧬

👉 rdcu.be/d8MSL

Last 10yrs 🇦🇺:
Many tests approved as evidence grows ✅
BUT testing volumes low AND inequitable access
Budget impact of #genomics minor: AU$3Mpa or <0.01% of all health expenditure 💰

@ausgenomics.bsky.social @iliasgoranitis.bsky.social

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders - npj Genomic Medicine npj Genomic Medicine - Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders

In this large study of ethnically diverse patients with suspected rare Mendelian disorders, exome sequencing has a diagnostic yield of 32%. Via @natureportfolio.bsky.social www.nature.com/articles/s41...

Revealed: Why the fatal Huntington’s gene takes so long to cause harm A mutation in neurons grows for decades before it reaches a deadly limit.

A promising clue in Huntington’s disease: DNA repair proteins could provide targets for treatment. Via @natureportfolio.bsky.social www.nature.com/articles/d41...

Find out more: Take a closer look at our paper published in the Medical Journal of Australia: https://onlinelibrary.wiley.com/doi/10.5694/mja2.52568

It was such a privilege to work with this amazing group of genetic counsellors including: Eliza Courtney, Mary-Anne Young, Amy Pearn, @amcinerney.bsky.social and @jodieingles27.bsky.social. Thanks also to Julia Mansour and Lauren Hunt from the HGSA for their input and support on this paper.

Welcome to bluesky 🧬 @igmgroup.bsky.social

All about genetic counselling, ELSI, mainstreaming, and implementation research- check it out!

@tatyanes.bsky.social
@amcinerney.bsky.social

Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing - European Journal of Human Genetics European Journal of Human Genetics - Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing

1st up 🧬"Community concerns about genetic discrimination (GD) in life insurance persist in Australia"
📄Despite a partial moratorium, fears of GD deter genetic testing. Legislation for genetic results use in life insurance is needed.
Read more: www.nature.com/articles/s41... @amcinerney.bsky.social

Utility of genomic testing in children, adolescents, and young adults with cancer Abstract. Genomic testing can inform the diagnosis and personalize management of cancers in children, adolescents, and young adults (CAYA). This scoping re

Weekly highlights include "Utility of genomic testing in children, adolescents, and young adults with cancer". This informs Aus's 1st national framework for genomics in cancer control being developed by Cancer Australia 📜
#Genechat
@amcinerney.bsky.social
➡️https://doi.org/10.1093/jnci/djae233

Narrative therapy and family therapy in genetic counseling: A scoping review Genetic counseling facilitates psychological and social adaptation in clients and families. Two psychotherapeutic approaches, narrative and family therapy foster client adaptation to adverse situatio...

Up next "Narrative therapy and family therapy in genetic counselling" describes the application of two psychotherapeutic approaches for GCs & identifies future research directions🧬
@amcinerney.bsky.social
@jenberkman.bsky.social
➡️https://onlinelibrary.wiley.com/doi/10.1002/jgc4.1938

Did you know? Genomic testing is a powerful tool that can identify genetic contributions to rare and common conditions. Yet, genomic testing remains under used in Australia due to limited awareness and access to services. Genetic counsellors are specialist workforce central to genomic healthcare.

Who are genetic counsellors? Genetic counsellors are allied health professionals with expertise in genomics, health communication and counselling. They help patients and their families to understand complex genomic information and make decisions about their health. Genetic counsellors improve access to genomic testing, clinician knowledge of genomics and patient outcomes.

What are the problems? There are barriers in Australia that limit access to genetic counsellors including: Workforce shortage. Limited funded roles and lack of career progression, resulting in genetic counsellors leaving clinical roles. Lack of funding for genetic counselling services, including no MBS item number or insurance rebates.

A way forward: We propose that genetic counsellors should be integrated into mainstream health to improve genomic healthcare practices. Voices of medical colleagues champions are needed to advocate for the profession and ensure that genetic counsellor full potential is recognised.

We hope the paper can draw attention to the role of GCs in genomic medicine, address misconceptions and highlight challenges. E.g. workforce shortages are frequently raised, while the lack of funded clinical roles and career progression that result in GCs leaving clinical roles is often overlooked.

Title: Genetic counsellors: facilitating the integration of genomics into healthcare

Read our new perspective piece published in @mja.com.au. We explore the role of GCs in genomic medicine and current professional challenges. What started as passionate conference discussions has turned into a great perspective piece!

To read the paper: onlinelibrary.wiley.com/doi/10.5694/...

What a great end to the year with #FrazerInstUQ and #TRIresearch awards:

- Dr Courtney Wallingford @cwallingford.bsky.social Graduate student of the year

- Jennifer Berkman and Emily DeBortoli won TRI travel scholarships.

@tatyanes.bsky.social

👏👏👏👏👏👏👏👏👏👏

🌟 NEW PAPER 🌟
www.nature.com/articles/s41...
Integrated risk scores can drive targeted melanoma screening. We piloted a communication model with a booklet & GC appt:
📖 Booklet were useful.
🤝 GCs added sense of accountability
💡 No distress
@tatyanes.bsky.social @amcinerney.bsky.social
#PRS #genechat