Clinical Programs

Inpatient Care

The Genetics Program has a 24-hour consultation service available to inpatients at CHEO and the Ottawa Hospital - General Campus at the request of the admitting physician. The reasons for inpatient consultations vary tremendously, but often they are performed to address the possibility of a genetic condition in a newborn with congenital anomalies and/or dysmorphism. We also see older infants, children and adolescents admitted to CHEO for a large variety of reasons – the unifying indication for a genetic consultation is always a known or suspected genetic condition. We occasionally see adults admitted to the Ottawa Hospital when the diagnosis of a genetic condition will impact their medical management and/or that of their family members. Some of these are individuals admitted for cancer treatment who also have a strong family history of cancer. A total of approximately 200-250 inpatient consultations are performed each year.

Outpatient Care

The Genetics Program is located at the Genetics Clinic in CHEO’s Max Keeping Wing. The service is comprehensive and centralized, providing diagnosis and counselling related to dysmorphology and syndrome recognition, prenatal genetics, adult genetics, ocular genetics, skeletal dysplasias, inherited connective tissue disorders, genetic skin disorders, cancer genetics, cardiogenetics and neurogenetics. The clinic receives 5,000 – 6,000 outpatient visits a year. Our consultation services include genetic counselling, the provision of accurate, understandable and patient-oriented information about genetic tests and genetic conditions to patients and their family members.

Clinical Problems and Diseases Evaluated and Followed

We see patients of all ages and with a variety of medical issues relating to all organ systems. There are thousands of genetic conditions and the reasons for referral are as varied as the patients themselves. We provide assessment, diagnosis, counselling and follow-up for individuals who:

  • Have a known or suspected genetic condition (including genetic syndromes, skeletal dysplasias, connective tissue disorders, ocular genetic conditions, genetic forms of hearing loss, genetic skin conditions, and neurogenetic conditions)
  • Have single or multiple congenital anomalies
  • Have developmental delay and/or autism
  • Are suspected to have a fetal alcohol spectrum disorder
  • Have a personal or family history of a genetic condition (such as cystic fibrosis, hemochromatosis and Huntington’s disease, among many others)
  • Have a personal and/or family history of cancer
  • Are of an ethnic origin in which certain inherited disorders may be more common
  • Have had a previous child with a malformation or chromosome abnormality
  • Have had three unexplained pregnancy losses
  • Are women who will be 40 years or older at the time of delivery or who will be 35 and are having twins
  • Have had exposure to a teratogen during pregnancy
  • Have had a positive screen result for Down syndrome, trisomy 18 or spina bifida in a pregnancy
  • Have had abnormal ultrasound findings in a pregnancy


Royal College of Physicians and Surgeons of Canada


Professional Association of Residents of Ontario (PARO)

Canadian College of Medical Geneticists

CHEO Regional Genetics Program

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