Medical genetics is a field of medicine that studies the role of genetics in human disease.

Geneticists may be physicians or scientists or a combination of both. Their work may be purely clinical and take place in regional hospitals, university medical centres or community clinics, or it may also include clinical research and translational studies. Genetics is a fascinating and challenging discipline that is constantly changing, as technological and research advances rapidly expand the amount of information known about individual genes, their gene products and their role in disease. Medical genetics affects patients of all ages and involves all body systems.

Clinicians can become geneticists via two routes: (1) the Royal College Medical Genetics training program and (2) the CCMG fellowships in Clinical Genetics or in Clinical Biochemical Genetics. 

Medical students can enter medical genetics as a five-year primary specialty with direct entry from medical school in the CaRMS match. 

The Canadian College of Medical Genetics (CCMG) offers subspecialty fellowships to physicians who have already completed the Royal College training in a primary specialty (such as an FRCPC in pediatrics or internal medicine, or an FRCSC in obstetrics) as a pre-requisite. Admission to a CCMG fellowship is contingent on the availability of training resources at the receiving institution and on the ability of the receiving institution to secure funding to provide salary support to the CCMG fellow.

More information about a comparison of the Royal College and the CCMG route can be found on the CCMG website

Related links

Program structure

Rounds and teaching

Rounds and teaching opportunities are the same for residents and fellows in Genetics. Trainees participate in a variety of academic and clinical meetings during the week, in addition to the academic half-day on Friday mornings. Academic half-day includes didactic small group teaching, focused on a comprehensive selection of topics followed by a weekly patient review that is specifically geared to teaching dysmorphology and laboratory genetics as they apply to individual patient encounters. Joint genetics, neonatology and maternal-fetal medicine rounds are also held every week to discuss complex prenatal patients. Further, the Hereditary Cancer team holds a weekly patient review meeting. Department-wide genetics education rounds, focused on topics of research interest or reviews of new information from recent conferences, are also held weekly. Journal club occurs approximately every 2 months and is held in the evening.

In keeping with the requirements of the Royal College, residents complete the equivalent of course work in human genetics, molecular genetics, cytogenetics and population genetics. This is supplemented by didactic lectures provided by the faculty.

In addition to genetics residents and fellows, we have a variety of rotating trainees, including medical students, residents in pediatrics, obstetrics, pathology, hematology, perinatology, dermatology and neurology, as well as fellows in maternal-fetal medicine and neonatology. The learning environment is rich.

Clinical programs

The Department of Genetics encompasses the Genetics Clinic in CHEO’s Max Keeping Wing, offering trainees a high quality, well-rounded and comprehensive experience in all aspects of genetics care. The Molecular Diagnostic and Cytogenetics Laboratories are adjacent to the clinic and the Biochemical Genetics Laboratory is also located at CHEO.

The clinical service is comprehensive and centralized, providing diagnosis and counselling related to general genetics, dysmorphology, syndrome recognition, prenatal genetics, adult genetics, cancer genetics, cardiogenetics, ocular genetics, skeletal dysplasias, inherited connective tissue disorders and neurogenetics.

Medical geneticists and genetic counsellors see patients referred with a variety of prenatal and general genetics indications. These include expectant women diagnosed with fetal ultrasound abnormalities, children, youth or adults with developmental delay or intellectual disability, dysmorphism and/or congenital anomalies and individuals of any age with a variety of other presentations that suggest a genetic condition, including a hereditary cancer predisposition.  


The RCPSC residency and CCMG clinical genetics fellowship training programs in Ottawa are housed in the Children’s Hospital of Eastern Ontario (CHEO) Department of Genetics

We also serve as the Regional Genetics Program for Eastern Ontario and the Outaouais region of Quebec, with a catchment area of approximately 1.2 million.

Research opportunities

The Regional Genetics Program has a large and active clinical, cytogenetics, molecular genetics and biochemical genetics research program. Clinical and research staff regularly submit abstracts for presentations at major national and international genetics meetings. Trainees are actively involved in research projects and encouraged to attend conferences. 

All trainees are expected to plan and carry out a research project (clinically-oriented and/or laboratory-based) that is suitable for publication and presentation at an international meeting.

Our mission: As a leader in deciphering genetics, we translate research into knowledge to empower families to be their healthiest.

Our vision: Answers for every family, at all stages of life.


Application process

For those interested in the CCMG Clinical Genetics or Clinical Biochemical Genetics Fellowships, information related to necessary qualifications, the training programs and the application process can be found on the CCMG website, starting with the FAQ document

For those interested in the RCPSC Medical Genetics Residency, medical students should apply directly through CaRMS.