Medical Genetics

The Ontario Ministry of Health and Long-Term Care designates the Genetic Program located at the Children’s Hospital of Eastern Ontario (CHEO) as one of several regional centers in the province for genetic assessment, diagnosis, counselling, and testing. The program offers clinical, biochemical, cytogentics and molecular genetic diagnostic services. It is also the site of the Newborn Screening Ontario Program. The mandate of the Genetics Program is to provide clinical and laboratory services through all stages of life, including preconception, prenatal, pediatric, and adult. Therefore, the trainee will be exposed to patients of all ages. 

The clinical service includes:

  1. Counselling about options for prenatal diagnosis.
  2. Counselling related to the significance of prenatal ultrasound and prenatal screening findings.
  3. Counselling related to a family history of a genetic condition and the availability of carrier testing.
  4. Counselling related to a personal or family history of cancer such as those suggestive of familial breast/ovarian or familial colon cancer syndromes.
  5. The assessment and diagnosis of complex referrals related to syndromes, inborn errors of metabolism and congenital malformations.
  6. The assessment and diagnosis of neurogenetic disorders.

The laboratory service includes:

  1. Genetics Diagnostic Laboratory; which provides Cytogenetic and Molecular Genetic testing such as chromosome analysis, microarray analysis, FISH testing and more than 15 identified genetic disorders including Inherited Cardiomyopathies and FSHD.
  2. The Biochemical Genetics Laboratory provides testing for the Genetic Metabolic Disease Program.
  3. The Newborn Screening Ontario Program provides screening for approximately 30 disorders to all babies born in the province.

Clinical Genetics Rotation


  • To learn an approach to the patients with genetic/metabolic diseases.
  • To learn a genetic framework for family history taking and pedigree drawing.
  • To learn how to conduct a dysmorphology examination.
  • To learn communication and counselling skills.
  • To learn the indications for a genetics referral.


The student will gain experience in clinical genetics, cancer genetics, dysmorphology, metabolic disease, prenatal screening and prenatal diagnosis. They will spend time with physicians and genetic counsellors. Students will learn how to obtain and record a detailed family history, perform a thorough dysmorphology examination and apply the principles learned during their didactic courses.

Please note: this elective should be requested as early as possible as there is high demand.

Contact: Melanie McKerral

Location: Clinic Wc-2, 3 rd floor, Max Keeping Wing, CHEO

Available for: 1st and 2nd Year Students; 4 week minimum observer-ship

Available for: 3rd and 4th Year Students; 2 week period (minimum)

No. of Students: 5-10/year, 1 at a time

Summer research studentships may be available and should be discussed with potential mentors as early as possible.

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