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About this service

The Provincial Medical Genetics Program is a division of the Medicine Program provides genetic assessment, counselling and care for people of all ages across Newfoundland and Labrador, including during pregnancy.

Genetic conditions are caused or influenced by changes in genes or chromosomes. These conditions may affect a person’s health or development and can sometimes be passed down in families.

How this service can help you

Genetic counselling and assessment can help you and your family better understand how genetics may affect your health.

You may be referred if:

  • you or a family member has a genetic condition
  • a genetic condition runs in your family
  • you are concerned that a health condition may be inherited
  • a previous pregnancy or child had a birth difference, developmental delay or genetic condition
  • you have a family history that may increase your risk of certain cancers or heart conditions
  • your newborn has a screening result that needs further assessment

The program provides several types of genetic care.

Genetics during pregnancy

The team works with people who are pregnant or planning a pregnancy to assess the chance that a baby may have a genetic condition.

Newborn screening follow-up

The team follows up when a newborn screening result shows that a baby may have a condition that needs more testing. Further testing can help confirm whether the baby has the condition and whether care or treatment is needed.

Genetics for children and adults

The team assesses children and adults who may have a genetic condition affecting their health, growth or development.

Hereditary cancer

The team assesses people whose personal or family history may suggest an inherited higher risk of certain cancers.

Cardiac genetics

The team assesses people who may have an inherited heart condition.

Metabolic genetics

The team cares for people with certain genetic conditions that affect how the body processes food and other substances.

Who can access this service

The Provincial Medical Genetics Program provides care for people of all ages across Newfoundland and Labrador. The type of genetic assessment or care you need will depend on your health, personal history and family history.

How you can access this service

You need a referral from a health-care provider, such as your family doctor or nurse practitioner.

Most care is provided through clinic appointments. The genetics team can also provide consultations for some patients who are staying in hospital.

For questions about referrals, contact the program.

What to expect during your appointment

Before your first appointment, you may be asked to complete a questionnaire about your family’s health history.

During your appointment, the genetics team may:

  • ask about your health and your family’s health history
  • discuss the reason you were referred
  • explain how a genetic condition may affect you or your family
  • discuss whether genetic testing may be helpful
  • explain possible test results and what they could mean
  • answer your questions and discuss next steps

Most patients can have their appointment by video (virtual). An in-person appointment may be needed if a physical examination is required.

Your team

Your care team may include:

  • medical geneticists (doctors who specialize in genetic conditions)
  • genetic counsellors (health professionals who help you understand genetic information, testing and how it may affect you or your family)
  • administrative staff who help schedule and coordinate your care

Where we are

Provincial Medical Genetics Program
Faculty of Medicine Building
Health Sciences Centre
St. John’s, NL

How you can reach us

Phone: 709-777-4363
Referral fax: 709-777-7190

Facilities that offer genetic counselling services

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Last updated on: September 11, 2026

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