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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