Genetics Program

The Genetics Program at the Health Sciences Centre offers:

  • Assessment and diagnosis of genetic disorders
  • Medical information and advice about genetic diseases or conditions for people at risk of a disorder that might be hereditary (run in the family)
  • Discussion about the risks of developing and passing on the disorder
  • Information regarding the management and prevention of inherited disorders
  • Services that arrange and interpret genetic laboratory test results
  • Participation in education and research

What is genetic counselling?

Genetic counselling is a health care service which provides information to families and individuals who are affected by or at-risk for inherited and/or genetic conditions.


General public:

Referrals can be made through your health care provider. Once a referral is received, a family history questionnaire will be mailed to you. Once we receive the completed form, a genetics nurse counsellor/genetic counsellor will contact you.

Health care providers:

If you are a health care provider and wish to make a referral for one of your patients, please use the referral form and fax it to us at 807-684-5823. If you have any questions or would like to speak with a member of the genetics team before sending a referral please call us at 807-684-7320.

Who provides genetic services?

The genetics program has one full-time program support staff, two full-time genetic counsellors, one part-time counsellor, and one geneticist.

Genetics nurse counsellors in Northern Ontario are mainly university degree nurses with a specialty in the genetics field. Genetic counsellors are health care professionals with specialized graduate training in the areas of medical genetics and counselling. Geneticists are medical doctors who have special training in the area of inherited diseases.

Genetics clinics

Depending on the nature of the referral, patients either see a genetic counsellor/genetics nurse counsellor or a geneticist. Appointments with a counsellor are available at any time throughout the out the year. The geneticist holds genetics clinics four to five times per year. However, if a referral is urgent, patients can see a geneticist through Telehealth videoconferencing.

Is genetic counselling right for me?

Some reasons for a genetics referral include:


  • A personal history of 3 or more miscarriages
  • Maternal age of 35 years or older at time of delivery
  • Exposure to medication, drugs, chemicals etc. during pregnancy
  • Positive prenatal screen
  • Ultrasound findings that might suggest a genetic condition
  • Previous child with a birth defect
  • Previous child with a chromosome abnormality or other genetic disorder
  • Specific ethnicity that may have a higher incidence of certain genetic conditions


  • Birth defect(s) or multiple congenital anomalies (cleft lip/palate, heart defects, spina bifida)
  • Developmental delay or learning disabilities of unknown cause
  • Sensory impairments (vision, hearing)
  • Metabolic disorders (PKU, galactosemia)
  • Known or suspected genetic disorders e.g. (Down syndrome, Cystic Fibrosis, Muscular Dystrophy)


Family history and/or a personal history of a potentially genetic adult onset condition (e.g. Huntington Disease, Polycystic Kidney Disease, Hereditary Cardiomyopathy, Muscular Dystrophies).

Hereditary Cancer

Recent scientific advancements have prompted an increase in interest in the area of hereditary cancers such as breast, ovarian, and colon cancers. Familial cancers make up only 5-10% of all cancers. Other cancers may also have a genetic connection, and a referral to genetics may be helpful to understand the risk to you and your family members and also to look into possible testing options for family members.

The genetics nurse counsellor/genetic counsellor and visiting geneticist provide information and counselling to those at risk. In collaboration with the Regional Cancer Care Northwest, a consultation with an oncologist is also available as needed.

Genetic services and costs

Genetic services are offered free of charge to those who have a valid OHIP card and meet our referral guidelines. All genetic tests that are offered to you are covered by OHIP. Some genetic tests are not available in Canada, and in these cases we will apply to OHIP to cover the testing expenses.