Medical Genomics Clinical Spotlight: Get to Know Dr. Michelle Axford

Dr. Michelle Axford is a clinical director of the molecular genetics lab at The Hospital for Sick Children (SickKids) in Toronto. She completed her Canadian College of Medical Geneticists (CCMG) post-doctoral fellowship at SickKids, which qualified her to work as a clinical laboratory geneticist in the molecular genetics clinical lab. Prior to completing her fellowship, Dr. Axford worked as a research and development scientist at Luminex molecular diagnostics, which was a transition from the post-doctoral fellowship role in which she began her industry career. She did her Bachelor of Science at McMaster University and PhD in molecular genetics from the University of Toronto. Michelle loves to see the positive impact molecular genetics testing has on the children at SickKids. 

At SickKids, Dr. Axford is often found troubleshooting the technical aspects of molecular genetics laboratory tests. Genetics testing at SickKids is often used to discover or confirm a diagnosis, meaning underlying conditions have the potential to be caught early, and kids can sometimes access appropriate treatments or interventions shortly after receiving their diagnosis. Adults can also have genetic testing performed at the SickKids lab, when physicians seek to confirm a diagnosis with molecular genetics testing. Axford works alongside other directors to review clinical genetics data: “We use all types of technologies for our testing, like next generation sequencing (NGS) for whole genomes and exomes, and gene panel sequencing for specific indications like hereditary hearing loss, right down to single gene and single variant tests, for example for cystic fibrosis by testing only the CFTR gene.” Duchenne muscular dystrophy and achondroplasia are other indications the lab tests for with a monogenic etiology (disorders caused by a single genetic change) - the former condition is caused by variants in the DMD gene while the latter condition is caused by one or two recurrent variants in the FGFR3 gene. To interpret results, a team of genome analysts, genetic counselors, and lab coordinators review the testing data and draft a preliminary genetic test report. Close attention to detail is required of the molecular genetics laboratory personnel to ensure test quality is sufficient and results are accurate: “We re-review the data, the literature – if there’s any being cited – review the reports, and then collaborate back and forth to make sure the report is accurate, that we agree with the results, that we agree with the way the report is framing the results of the test, and then sign that out to the physicians.” Clinical testing represents the bulk of Axford’s responsibilities at the molecular genetics’ laboratory, although like other lab directors at the hospital, she is involved with additional projects.

Michelle has held a passion for genetics since learning about it for the first time in high school. When she went to McMaster University for her undergraduate studies in Biology, she chose to specialize in genetics. After she completed her PhD in molecular genetics at UofT, Axford wished to marry her new technical knowledge with the world of clinical genetics: “I went to industry at first because I thought that would be a good step to understanding more of the clinical aspects while also using my knowledge of the technical aspects of lab work.” At Luminex molecular diagnostics, Axford contributed to the development of a multiplex respiratory pathogen panel that identifies most well-known respiratory pathogens in a patient sample, including viruses like RSV, flu virus A, and influenza. The multiplex respiratory panel was cleared by the FDA and Health Canada and is now used internationally (including at SickKids) – something that Michelle is very proud of.

After working in industry for a few years, the Canadian College of Medical Genetics fellowship (FCCMG) crossed Axford’s radar, and she realized industry wasn’t exactly where she wanted to be anymore. Since completing her CCMG fellowship and becoming more clinically involved as director of the SickKids molecular diagnostics lab, Dr. Axford is happy to have a more clinical role at the hospital while contributing to research at SickKids: “I’m involved in clinical research aspects of the lab as well. We have collaborations with individuals on the clinical and the research side. There’s just a lot of varied and extremely interesting work that we do here.” In addition to clinical testing, Dr. Axford is often working on several test validations, which includes “implementation of new testing strategies, upgrading of [existing] tests, which can include adding genes to panels - or sometimes removing genes - to make sure the testing is up to date with the current clinical [practice] and genetics knowledge.”

From her clinical and validation work to lecturing, laboratory meetings and being a mom, Michelle enjoys keeping herself busy. Dr. Axford is currently working towards the implementation of pharmacogenomics testing at SickKids, a genetic test which links how variations in genes affect the way individuals metabolize drugs: “For children in the hospital who are receiving various medications, the knowledge of their pharmacogenomic background can be useful to get a better idea of dosages of specific medications, or whether they’re likely to respond as expected to various medications at all.” Axford continued, “[Pharmacogenomics] is difficult because it’s not like many other genetic test results. You’re not usually looking for one variant in one gene. Multiple variants within a specific gene on one of the alleles – a haplotype – [combined] with variants on the other allele gives you a diplotype of that gene, which informs how you may metabolize a whole host of drugs that are within the pathway of that gene product.” Due to this added complexity, pharmacogenomic testing is not yet available as a clinical test in the lab, still being in the early phases of development.

Dr. Michelle Axford now sits as chair of the CCMG credentials committee. She emphasized that a deep passion for genetics is required to do an CCMG clinical fellowship: “Every year, more and more people are interested inthe CCMG programs, and the competition is very fierce. We get lots of applicants who have specifically tailored their CV to try to get into the program.” Axford continued, “Make sure you love it, because [clinical genetics] is demanding – it’s a lot of work.” For Michelle, she loves clinical genetics work and is more than happy to connect with people interested in doing an CCMG clinical fellowship: “I’m always more than happy to sit down and meet with people so they have a better idea of what my day to day is [as a clinical lab director], whether this is really something that they’d like to do for themselves, and [show them areas] where I think they could bolster their CV a little bit [for the application].” Importantly, a PhD or Doctor of Medicine (MD) is required to apply for the CCMG programs (https://www.ccmg-ccgm.org/). For those interested, Axford’s contact information can be found here – she prefers to communicate by email to start.

The UofT Master of Health Science (M.H.Sc.) in Medical Genomics program is exceedingly grateful to have Dr. Axford as a guest lecturer. We wish for her continued success within SickKids both in clinical testing and research.