OMPRN is honoured to welcome Dr. Andrea Guerin. She is a medical geneticist, which means she helps find links between someone’s health condition and their genes. Dr. Guerin began her studies at the University of Toronto where she earned a degree in Biology. She then went to medical school at the Schulich School of Medicine & Dentistry at Western University. After becoming a doctor, she returned to the University of Toronto for more training in Medical Genetics and Genomics. During this time, Dr. Guerin worked mostly at the Hospital for Sick Children (SickKids), one of the top children’s hospitals in the world.
Dr. Guerin has been working as a medical geneticist for over 10 years now. She sees both children and adults and helps them understand and manage genetic conditions. Along with her clinical work, she recently finished a Master of Education program at Queen’s University. She also teaches medical students and helps train new doctors.
In this interview, Dr. Guerin shares how she got started in genetics and what her work looks like today. She talks about how the field is changing and how genetic testing is helping more patients get answers. She also explains how she keeps up with new research, some of the challenges in her field and why teamwork, empathy and being curious are so important when helping patients and families with rare or serious conditions.
Interview conducted by Kyster Nanan, over email on April 14, 2025.
What made you choose Medical Genetics and Genomics as a speciality?
It happened really organically. I started my clerkship with a Medical Genetics rotation as I wanted to be an Obstetrician and thought genetics was cool. Turns out, I didn’t like anything better after those two weeks, so I decided to apply to Medical Genetics and Genomics in the residency match.
“The beauty of Medical Genetics and Genomics is that nothing is common.”
What types of patients do you most commonly see in your practice?
The beauty of Medical Genetics and Genomics is that nothing is common. Each day I can see someone with a genetic diagnosis that is 1/1000, which is pretty common or have a patient where there are only 6 people in the world with the same diagnosis. Since I do full scope care, I also get to see families and can go from a patient who is a baby to a patient who is in their 90’s all in the same clinic.
Can you walk us through a typical day as a Medical Geneticist?
Typically, it is outpatient clinic. Patients can be seen in person or virtually, depending on the indication. I work with Genetic Counselors, who see patients where a physical examination is not required. They allow a small number of Medical Geneticists to be able to see thousands of patients a year. Most often I have clinic with my own patients, either new consultations or follow up results and am also covering the counselor clinics too. I do inpatient consults as needed and often have learners of many different disciplines in my clinics.
In the afternoons I work on my education leadership roles at Queen’s, teach, do research, clinic prep and any work that is needed in my role as Division Head.
If you would like to read up on the different roles of other specialised oncologists, view the ‘support professionals in cancer care’ page for a breakdown here.
How do you stay updated with the latest research and treatment options?
That is a tricky one. I think being that point of contact for patients with rare disorders to treatment options is really important in my role. Before seeing a patient, I do research to see if there are any new studies or therapies that might be of benefit. I attend conferences regularly and also collaborate with other Medical Geneticists all over the world. Also, patients and colleagues who focus on one system/disorder may bring new treatment options to my attention.
What are the biggest challenges or changes you’ve seen in your field recently?
It’s a fine balance of trying to mainstream access to testing to get to a diagnosis quickly without overwhelming non geneticist colleagues with extra tasks of providing genetic counselling and more importantly interpreting results. It can also lead to a slippery slope that expertise in variant interpretation and dysmorphology is not needed to diagnose genetic disorders which is not good for patient care. We need to be careful about the logistics of the organising of genetic testing so our colleagues are comfortable, we are there to provide valuable expertise and the patients are safe.
Can you describe how molecular pathology contributes to your daily practice?
It contributes every day! I either order or interpret a molecular test result for practically every patient I see. It helps with finally solving a diagnostic dilemma for a patient, informing family members and helping people make decisions regarding their own health and reproduction.
Take a look at our ‘what is molecular pathology’ resource to learn more about the field of molecular pathology.
What advice would you give to patients preparing for a consultation with a Medical Geneticist?
I think is great when patients come with questions. Knowing why you are here and what you want out of the appointment is important.
Look at our ‘support professionals in cancer care’ infographic for common questions you can ask each healthcare professional involved in cancer treatment and care.
What kinds of supports are available to patients and their families through your service?
It really depends on the diagnosis. Some diagnoses have lots of support options, whether it is funding, or parent support groups, while others have very little. Unfortunately for many families there is a gap between what they need and what is available to them.
Conclusion
We are thankful to Dr. Andrea Guerin for sharing her story and experience. Her work shows how medical genetics can help people find answers and support when dealing with rare or complex health conditions. This interview also shows how important it is for doctors, genetic counsellors and other healthcare professionals to work together so that patients and families get the information and care they need.
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