The Cardiac, Vascular & Metabolic Medicine Theme presented the second event in its series of faculty-wide lectures by renowned international speakers on Monday 6 May at the Garvan Institute. Fellowship recipient, A/Prof Jodie Ingles, hosted Prof James Ware of the Imperial College London.
The International Speaker Fellowship is a CVMM Theme initiative, where successful academics invite and host an international expert working in cardiac, vascular and metabolic medicine to visit Australia to strengthen existing or establish new collaborations with researchers affiliated to UNSW.
"It was such a highlight to have Professor Ware visit us in Sydney. For many of us, we have been long-term collaborators, but being able to integrate him into the research team at Garvan for a few days was so useful. We initiated even more collaborations, which would not have been possible without this kind of interaction. It is completely cost prohibitive to have all team travel to international meetings, but having an international collaborator visit us in Sydney and see what we do, really has proven very useful鈥 Associate Professor Ingles said.
During his presentation on Cardiac Genomics, Professor Ware spoke about how multiple genes can influence single-gene cardiovascular diseases (CVD), particularly cardiomyopathies, and how these genetic factors can impact clinical care. The relationship between genetics and CVD is complex. Monogenic CVDs, often resulting from a single gene mutation, can lead to severe conditions such as familial hypercholesterolemia which significantly increases the risk of early-onset heart disease. However, most CVDs are influenced by many genes working together, each contributing a small risk.聽
His research has shown that while single-gene conditions are rare, most CVDs are influenced by multiple genetic factors along with environmental and lifestyle factors. This understanding has led to the development of polygenic risk scores, which help predict a person's risk of developing heart disease based on their genetic makeup. These scores are becoming important in personalised medicine, allowing for early detection and targeted treatment to improve patient outcomes.
In diagnosing and managing inherited heart conditions like cardiomyopathies and inherited arrhythmia syndromes, it鈥檚 essential to assess families with a history of sudden unexplained death. This helps identify any genetic conditions that might affect surviving relatives, ensuring they receive appropriate care.
Professor Ware recently contributed to the 2023 European Society of Cardiology Guidelines for Cardiomyopathies, leading the section on genetic testing. His team has developed various tools for cardiac variant interpretation, now routinely used by researchers and clinical laboratories, and frequently discussed in national cardiac genomic multidisciplinary team meetings. He shared these recommendations with researchers at UNSW and beyond.
鈥淚 believe that the most pressing challenges in genomic medicine cannot be addressed by individual scientists or research groups, but fundamentally require a collaborative approach, and moreover an internationally collaborative approach, if we are to address inequalities in healthcare provision across the globe and provide healthcare to globally mobile populations.聽 It is hugely valuable to meet in person with researchers who are tackling these challenges, to identify shared barriers to progress, and to unite to overcome these鈥, Professor Ware said.
聽鈥淪ince the pandemic we have become increasingly used to communicating online, but this is an incomplete substitute for meeting in person. Meeting my existing collaborators face to face has built further trust and allowed more time to move to a deeper level of thought and discussion 鈥 with extended conversations, in some cases spanning several days of the visit鈥 he added.
Professor Ware鈥檚 visit allowed for the exchange of ideas, enabled the chance for opportunistic meetings with people he鈥檇 not met before, and who he would be unlikely to meet solely through conference travel. Overall, the face-to-face interaction has helped foster a deeper level of trust that underpins collaboration.
鈥淢any of the best ideas arise at the interfaces where different disciplines meet, and I have valued this opportunity to meet people outside of my immediate discipline and collaborative network, and to see where that may lead over the seasons ahead鈥澛
Together, the work of Professor Ware and Associate Professor Ingles continues to advance our understanding of the genetic basis of heart conditions. However, the implementation of these scores in clinical practice, and the potential for population screening requires careful consideration of cost-effectiveness.