M.H.Sc. Medical Genomics graduate David Di Iorio works as a Genomic Data Specialist at the Advanced Molecular Diagnostics lab out of Sinai Health. His work involves performing genomic variant interpretation under Dr. Jordan Lerner-Ellis, using interdisciplinary skills in gene curation, filtering, and assessment of pathogenicity to annotate patients’ whole genomes. David also holds a Bachelor of Science in Honors Co-op Biology from the University of Waterloo.
David was initially drawn to the UofT Medical Genomics Masters program after speaking with the program’s director, Dr. Erin Styles, at the first open house for the program back in 2018. David had just capped off his Bachelor’s program at Waterloo with an 8-month co-op term working for Dr. David Rose, the Chairman of Biology at Waterloo at the time, in a role which involved cloning genetic material through PCR methods, transforming plasmids in bacteria and yeast to express proteins of interest, and investigating protein molecular structure via crystallography. The position was fairly genetics-based, and David came out of the experience wanting to explore higher education options in that same field. After taking some time off to decide what he wanted to do next, David kept coming back to the Medical Genomics program. Ultimately, his interest in genetics and desire to enter the ‘exploding field’ of genomics drove him to join the third-ever cohort of the MedGen program.
David entered graduate school entirely online, amid university restrictions to in-person learning imposed by the COVID-19 pandemic in the Fall of 2020. Although he did not have experience taking courses online before, David recalls the transition to remote learning as being smooth, saying, “To have an entire master’s switch to an online format is a challenging thing, but the way that Erin and Johanna [Carroll] handled it, everybody in the program managed to transition smoothly, and they made learning very easy given the circumstances.” Being one of the two MedGen representatives for his cohort (alongside Daniel Kiss), David also had the unique challenge of fostering community within the new cohort entirely online: “Whether it was online websites that allowed you to play games, or even just Zoom calls with fun trivia challenges, we needed to shift gears mentally and ask ourselves, ‘what are some events we can hold that can help this cohort feel like they are a close-knit community, they are connected, and they’re not alone in their journey through their master’s program?’” By fostering these relationships between cohort members, David felt that the progression towards in-person learning and meet-and-greets in second year felt natural and welcoming.
In the Summer of 2021, prior to entering his second year of the MedGen program, David entered Dr. Lerner-Ellis’ lab as a volunteer alongside a handful of peers from his cohort. He conducted variant interpretation for Dr. Lerner-Ellis on a part-time basis up until the beginning of the Medical Genomics Capstone Practicum, before transitioning into a more full-time capacity, and completing his practicum at the same lab: “I went from a volunteer position with him during school seamlessly into full-time unpaid practicum, and then [went] seamlessly again after I graduated into continuing my full-time role.” After graduating, David received a paid contract to continue performing genomic variant interpretation under Dr. Lerner-Ellis. The suggestion to begin volunteering in the Summer term of first year came at the encouragement of upper year Medical Genomics students: “They informed me that the program’s summer term was lighter on the course work than others," says David, “and that it would be an ideal time to search for extra curricular work in the field.” David recalls this event as a perfect example of why it is so important to network in your field: “Had I not made it a priority to speak with other Medical Genomics students that have gone through these experiences already, I may never have sought out a position in Dr. Lerner Ellis’ lab and wouldn’t have landed the incredible work experience I have now.”
For anyone with a background in molecular biology interested in getting involved in variant interpretation, David recommends really taking the time to understand how to apply the ACMG guidelines to classify variants. Created by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, the ACMG guidelines are the North American standard for interpreting genomic sequence variants. David considers them “the holy grail of variant interpretation.” He recommends networking with professionals in the field and trying to land a position where you can get substantial practice performing literature searches and annotating variants. David also recommends having a dedicated space devoted to work and stepping away from the computer to recharge and get some fresh air. Volunteering at the Toronto Wildlife Center on weekends and ensuring he gets enough sleep are examples of how David maintains a healthy work-life balance.
We can't wait to see what the future holds for you, David!
