Sierra Scodellaro is a recent graduate of the M.H.Sc. in Medical Genomics Program (Class of 2021) who is currently working as a Pharmacogenomics Data Analyst at SickKids Hospital. She describes her role as the bridge between the fields of pharmacology and genomics; working to develop a streamlined and validated approach to derive, report, and deliver pharmacogenomics data from clinical whole genome sequencing to patients and their healthcare teams. As she explains “When I started, pharmacology and genome diagnostics were very isolated from each other, my work helps to bridge the gap between them”. Interestingly, her position did not exist when Sierra began her practicum placement at SickKids in the winter of 2021.
Sierra knew she was interested in pharmacogenomics since it was introduced in the Advanced Human Genetics course during her first year in the MedGen Program. Sierra became passionate about ways to use whole genome sequencing data to create a patient’s pharmacogenomic profile, optimizing the safest medication treatment for them.
Sierra emphasizes that the majority of learning happens outside the classroom, and focused on creating opportunities to gain experience in pharmacogenomics during her time in the MedGen Program. She scheduled 25 informational interviews to meet with genomics experts and other students in the field to learn about their backgrounds and careers. One of these experts was Iris Cohn, a Clinical Specialist and Pharmacogenomics Pharmacist at SickKids Hospital, who has developed a pilot program that would introduce pharmacogenomics testing into clinical care for children at SickKids. Iris’ research aims to optimize a design for pharmacogenetics testing so that it may be implemented into daily clinical care in hospitals across Canada.
Initially, Iris agreed to take Sierra on as a volunteer, but when the COVID-19 pandemic hit, Sierra’s position was unfortunately put on hold. Determined not to miss out on the opportunity to work with Iris, Sierra pitched a research role with Iris as a practicum position to Dr. Carroll, who supported and encouraged her decision. Sierra secured the position and worked closely with Iris to optimize and run a whole-genome bioinformatics pipeline to sequence and interpret pharmacogenomic information from 49 patient genomes. Sierra obtained her raw results during her practicum, was subsequently hired on as a data analyst to interpret the results, and is currently in the process of sorting the relevant genes and generating patient reports.
Beyond learning and mastering bioinformatics approaches, Sierra gained valuable experience working with a variety of medical and scientific experts, including pharmacologists, pharmacists, clinicians, genetic counsellors, and company stakeholders. Sierra is excited to continue learning and aims to have a more patient-facing role in the future, hoping to consult patients and their healthcare providers on their pharmacogenomics profiles. To current and future students, Sierra encourages you to “just go for it”, reach out to professionals you’re interested in working with and pursue ideas that fascinate you. In her words, students entering their practicums should aim to “expand your horizons, see what different genomics fields are like, learn how the field is progressing, and figure out how to enter it”.
We wish you all the best Sierra, and we’re excited to see what you do next!
