Provides care for people and their families who have, or who are at risk for, genetic conditions during pregnancy, infancy, childhood and adulthood. Services include assessment, diagnosis and genetic counselling, and screening and management recommendations.
A team-based approach to care may include appointments with medical geneticists, genetic counsellors, registered nurses, dieticians, pharmacists, social workers and genetic assistants. Appointments may occur in-person, by video call, or by telephone, depending on the referral reason.
A consultation may involve:
- a review of the patient and / or relevant family members’ medical and family histories
- a physical examination of the patient, and possibly relevant family members such as parents and siblings
- investigations, such as medical imaging and blood work for genetic testing or other indications
- referrals to other medical specialists
- genetic counselling to provide patients and their family members with information about the specific genetic condition that they have or are at risk for
- genetic counselling to support patients and their family members in making informed decisions about testing and screening options
- genetic counselling to identify additional family members who may benefit from a genetic assessment.
The following reasons for referral should be considered urgent:
1. A genetic diagnosis or genetic testing will impact management/treatment decisions.
2. Patient is palliative.Please refer pregnant patients to the Prenatal Genetics Clinic.
If your patient is admitted and will remain admitted, please consider calling the inpatient genetics consult service. In-patient consultation services are provided at all tertiary hospitals in Calgary. Please call the Alberta Children’s Hospital Switchboard and ask to speak to the Medical Geneticist on-call.
Referrals for a family history of a genetic condition require the following information:
- Relationship to the affected family member
- Outline the genetic testing that has been completed in the affected family member (if possible, attach a copy of the relative’s genetic test report or Family Letter)
- If no genetic testing has occurred in the family, genetic testing may not be available to an unaffected family member. Please provide your patient with this resource: Genetic testing: When your family member has a genetic condition
Your patient may be asked to complete a Family History Questionnaire and / or ask a relative to sign a Release of Information form for review of relevant records. Depending on the reason for referral, a referral may be declined as incomplete if your patient does not return the requested information. This occurs when an accurate assessment cannot be made without the additional information.
For more information visit the Clinical & Metabolic Genetics website.