Bridging genetics and oncology | Internship case study

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Bridging genetics and oncology | Internship case study

Student Study
Jul 23, 2024
2
 min read

An interest in genetics and oncology led Jazmyn Karpathakis to undertake a curation internship with a team powering TAGC's Clinical Genomics Platform.

Jazmyn is in her second year of a Master of Genomics and Health at the University of Melbourne—a course that provides advanced training in the current and potential impact of genomics on health and medicine.

She joined the University of Melbourne Centre for Cancer Research variant curation team led by Dr Joep Vissers, who service the TAGC Clinical Genomics Platform, and was jointly supervised by Dr Vissers and curation scientist Shannon Nicolson.

Variant curation teams identify, interpret and classify genetic variants, to understand how genetic differences influence cancer risk, progression and treatment response. This information is reported back to clinicians to support clinical decision making.

Jazmyn's academic background in genetics and professional background in haematology made a placement in cancer variant curation an easy decision.

"Precision oncology is a very interesting and quickly growing field, with great implications for diagnosis, prognosis, and therapeutic decision making,"she said.

"On a day-to-day basis I spent a lot of time learning, especially through guidance from my supervisors, team meetings and reading literature. I applied this learning to actually curate variants according to the UMCCR workflows."

"This internship helped me to translate the theoretical knowledge I am learning through my Masters of Genomics and Health, into realistic practical application."

Jazmyn said one of the most important takeaways from the internship was being able to gain experience in a very supportive environment, which enabled her to build her confidence and understanding how she can valuably contribute to a group.

"I am very grateful for this highly valuable opportunity to participate in the genomics workforce, it has broadened my horizons," she said.

"I have developed a greater appreciation for the importance of variant curation as a tool and skillset in any genomic context, and I am certain that the knowledge and skills developed in this internship will contribute to my future career."

Jazmyn aims to pursue a career in biomedical ethics, focusing on the implications of genomic technologies.

Genomics-driven healthcare is in the process of revolutionising how biomedical science diagnoses, treats, cures and prevents disease around the world.