Thursday, June 25, 2020

Student Rotation: Agnes Ginges Centre for Molecular Cardiology at Centenary Institute in Sydney, Australia


Since beginning the process of researching and applying to genetic counseling programs several years ago, I knew that I was interested in a rotation experience abroad. With so many genetics professionals and teams working around the world to better understand genetic conditions and how to best care for individuals and families impacted by these conditions, I was very eager for an opportunity to learn more about how clinical and research aspects of genetics are approached outside of the United States. 
With a particular interest in cardiovascular genetics and research, I had the opportunity to spend two weeks with the team at the Agnes Ginges Centre for Molecular Cardiology at Centenary Institute in Sydney, Australia for my optional rotation. 
Centenary Institute in Sydney, Australia is devoted to cardiovascular, cancer, and inflammation research.
The Molecular Cardiology team is made up of genetic counselors, physicians, and researchers devoted to gaining a better understanding of the mechanisms, psychosocial implications, and management of inherited heart disease. During my time in Sydney, I worked closely with the team and learned about the variety of projects they are working on – from the laboratory, clinic, and psychosocial angles. I was able to attend many meetings and participate in discussions about current and future projects.
One of the main goals of my optional rotation was to learn more about genetic counselor roles in a research setting. The genetic counselors at Centenary are responsible for seeing patients in the inherited heart disease clinics, as well as research coordination. While I was unable to attend a clinic prior to leaving Sydney, over the two weeks I was there, I was able to speak with the genetic counselors and learn more about the Australian healthcare system, which differs in a number of ways from what I have experienced in the United States, as well as their clinic procedures, patients, and genetic testing processes.  
A good portion of my time was spent learning about variant curation. With a variety of research projects and registries available to patients and research participants with inherited heart disease, the Molecular Cardiology team coordinates many types of genetic testing and sequencing and is responsible for determining pathogenicity of variants identified through research endeavors. During my rotation, I was responsible for helping to classify research variants by using a variety of population databases, published literature, and ACMG variant classification criteria to determine if the genetic change(s) identified in an individual could be considered disease-causing and related to their clinical presentation. Throughout my training at Pitt, most of my experience with genetic variants has been in a clinical setting, explaining different types of result classifications to patients. This experience with variant interpretation was very valuable to my training and helped me better understand the effort that goes into determining pathogenicity of a variant prior to disclosing a genetic test result to a patient or research participant.
While at Centenary, I also had the opportunity to attend a genetic counseling clinical supervision meeting. Genetic counselors from multiple practice areas meet monthly to discuss difficult cases and provide peer support as part of a requirement for maintaining genetic counselor certification in Australia. In addition, I was able to meet genetic counseling students from the local training program in Sydney who were at Centenary as part of their clinical rotations. It was interesting to learn more about training programs in Australia and how they differ from our program at Pitt and other programs in the United States.
While I was focused on learning the most I could during my time in Australia, I also made sure to take some personal time to explore the wonderful city of Sydney. I was able to visit the harbor and the Sydney Opera House, the beautiful Blue Mountains National Park, and yes, I even met a koala!


Despite having to cut my rotation short due to concerns surrounding COVID-19, overall, I had a wonderful experience. I learned a great deal about the genetics of inherited heart disease, and was able to get some insight into the seemingly endless possibilities for genetic counselor involvement in a research setting. My newly acquired variant interpretation skills are a nice addition to my genetic counselor toolkit for the future.  This rotation served as an excellent finish to my rotation training and a nice transition into my new position as a clinical and research genetic counselor.
My sincerest thanks to genetic counselors Laura Yeates and Jodie Ingles, as well as all of “Team Cardio” at Centenary Institute, for welcoming me to Sydney and facilitating a fantastic learning experience!
Alyson Evans, Class of 2020

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