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Irish doctor behind a pioneering genetics service in Australia joins RCPI Conference line-up
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Irish doctor behind a pioneering genetics service in Australia joins RCPI Conference line-up

Associate Professor Catherine Quinlan will highlight the importance of genetics in patient care at the upcoming St Luke’s Symposium on 17 October, as part of the Royal College of Physicians of Ireland’s (RCPI) Conference.

A Paediatric Nephrologist at the Royal Children’s Hospital (RCH) Australia, and originally from Ireland, Associate Prof Quinlan has worked at RCH since 2013, where she established the hospital’s first multi-disciplinary renal genetics service.

“About 60% of children with kidney disease may have a genetic basis for their condition, underscoring the necessity of integrating genomic testing into routine clinical practice,” says Associate Prof Quinlan.

“Genetics is not just an esoteric subspecialty; it is an integral component of modern practice that should be integrated into all our workflows,” she says.

Her presentation “Empowering Genomic Literacy: A Roadmap for Integrating Genomics into Healthcare” will be part of St Luke’s Symposium on 17 October. We caught up with Associate Prof Quinlan in advance of the conference to learn more about  career and work.

 

Associate Prof Catherine Quinlan, you are a Paediatric Nephrologist in Kidney Genetics at the Royal Children’s Hospital, Australia. Can you give us a sense of your role and the work involved?

As a Paediatric Nephrologist, my primary responsibility is to care for children impacted by various forms of kidney disease. Over the past decade, I have had the privilege of establishing a pioneering diagnostic kidney genetics service in Victoria. Leading a multidisciplinary team that includes clinical geneticists and genetic counsellors, we strive to provide comprehensive care for families affected by genetic kidney diseases.

 

Your presentation is titled “Empowering Genomic Literacy: A Roadmap for Integrating Genomics into Healthcare.” What was your starting point for this?

One of my core interests lies in healthcare transformation, and I have joyfully initiated and established several clinical and research programs aimed at improving patient care across Australia. The Victorian Kidney Genetics Service exemplifies my commitment to integrating genetics into clinical practice, enabling us to better understand and treat genetic kidney diseases.

 

I imagine your own perspective is filtered through your specialty of Paediatric medicine. Where did the passion to pursue that specialty come from?

My aspiration to be a Paediatrician was solidified during my early experiences in clinical settings, particularly when I witnessed the profound impact that medical interventions can have on a child’s life. The resilience and joy that children exhibit, even in challenging circumstances, inspire me daily. I am driven to ensure that every child, particularly those facing the trials of kidney disease, has the opportunity to thrive and reach their fullest potential.

 

How important is the subject of genomics in Paediatric medicine today and why?

Genomics plays a crucial role in Paediatric medicine today, especially as we increasingly recognise the genetic underpinnings of many childhood diseases. The findings from the 2016-2017 US National Survey of Children’s Health indicate that approximately 2.8 million children in the United States are diagnosed with genetic conditions, highlighting the prevalence and complexity of these disorders. Importantly, about 60% of children with kidney disease may have a genetic basis for their condition, underscoring the necessity of integrating genomic testing into routine clinical practice.

 

What is the key take-home message you would like participants to leave the symposium with?

The key message I would like participants to embrace is that genetics is not just an esoteric subspecialty; it is an integral component of modern practice that should be integrated into all our workflows. Understanding the importance of genetic testing empowers all healthcare professionals to recognise the indications for testing and interpret results effectively, thereby enhancing patient care across all areas of medicine.

Ultimately, fostering a collaborative environment that prioritises genomic literacy will not only benefit individual patients but also advance our collective capacity to address genetic conditions in Paediatrics.