Within the Department of Genetics, three laboratories and five Canadian College of Medical Geneticists (CCMG)-certified clinical laboratory scientists play an integral role in service delivery and training of residents and fellows. The cytogenetics, molecular diagnostic and biochemical genetics laboratories are all also accredited through the Ontario Laboratory Accreditation program. The location of the cytogenetics and molecular diagnostic laboratories immediately adjacent to the clinic enhances collaboration and facilitates knowledge transfer. The biochemical genetics laboratory is home to the integrated prenatal screening (IPS) program for patients in Eastern Ontario in addition to offering a variety of metabolic tests. In all three laboratories, a broad range of samples are received and a wide range of techniques are in use. There has recently been substantial investment in infrastructure, informatics and instrumentation, including the acquisition of a new metaphase scanner and next-generation sequencing (NGS) capability.

Many of us are members of the CHEO Research Institute. Our research is designed to further understanding of genetic diseases and improve our ability to help patients and families dealing with these conditions. It is often conducted in collaboration with scientists who are not directly involved in patient care.

We are academically affiliated with the University of Ottawa Faculty of Medicine’s departments of Pediatrics, Medical Oncology and Pathology & Laboratory Medicine. We are committed to excellence in the teaching and mentoring of medical students, residents and fellows. We also teach our peers about medical genetics in the context of continuing medical education days at local venues and participate in seminars at provincial, national and international conferences as well as presentations to outreach communities.

We conduct research in virtually all areas of clinical and laboratory genetics and are the home of the most successful rare gene discovery programs in Canada, FORGE Canada and Care for Rare, which have achieved international recognition.

• Areas of research include, but are not limited to:
• Finding of rare disease genes
• Describing new genetic conditions
• Finding new clinical or laboratory characteristics of existing genetic conditions
• Finding new ways to test for genetic conditions
• Learning about the impact of genetic conditions on patients and families
• Finding the best way to provide genetic counselling to patients and families

Our research interests are numerous and diverse. More information about our MD and PhD researchers can be found at the website of the CHEO Research Institute.

Undergraduate training opportunities

We have an active clinical environment that is ideal for medical students seeking elective rotations that will provide them with patient counselling skills, information on the latest developments in clinical and laboratory genetics as well as enough time to read about the genetic conditions they encounter. We provide electives for both junior and senior medical students and the spots are filled on a first-come, first-served basis. Our clinicians and laboratory scientists also participate in lectures and case-based learning (CBL) as part of the medical undergraduate curriculum.

Postgraduate training program

We are committed to excellence in the teaching and mentoring of residents and fellows. Our regional program hosts the University of Ottawa Faculty of Medicine’s five-year Royal College of Physicians and Surgeons of Canada postgraduate training program in Medical Genetics. The high faculty to resident ratio facilitates individual counselling regarding career options at all stages of the five-year program. At the end of five years, there is the expectation that the resident will successfully complete the Royal College examination and will be fully trained to practice as a consulting medical geneticist. For those individuals interested in pursuing a laboratory-based career, there is the option of an additional fellowship. Career opportunities are good in Canada and North America in general, with several job openings and few adequately trained candidates. 

We are also designated by the Canadian College of Medical Geneticists (CCMG) as a comprehensive centre for clinical genetics service and training. In partnership with our clinical laboratories and metabolic colleagues, we offer two and three-year CCMG fellowships in biochemical genetics, clinical genetics, cytogenetics and molecular genetics. 

We are proud of our perfect record of accreditation by both national bodies.

Additional postgraduate training

We routinely welcome residents and fellows from other disciplines for clinical rotations. These include residents in Pediatrics, Neonatology, Dermatology, Neurology, Obstetrics and Pathology in addition to fellows in Maternal-Fetal Medicine. We also offer rotations to midwives and to students pursuing a Master’s degree in Genetic Counselling from Vancouver, Toronto and Montreal.