Clinical and Metabolic Genetic Services, South   at
Alberta Children's Hospital
Connect Care Specialty: Genetics
Connect Care Department: CGY ACH GENERAL GENETICS
Estimated time to routine appointment: Greater than 18 months
Alberta Health Services - Provincial Health Services
SERVICE DESCRIPTION
Provides services for all Albertans across the lifespan who are at risk, or affected with a genetic condition(s). Individuals and families referred may include pregnant couples, newborns, children or adults.The Clinical Genetics team provides genetic assessment, screening, diagnosis, genetic counselling, and treatment (when available).

The Inherited Metabolic team provides diagnosis, lifelong treatment, monitoring, education and support for individuals and families impacted by metabolic conditions.

Both services focus on patient and family centred care and, as well, are actively involved in research to best support quality care for patients and families.

For additional information related to the specific services offered by Clinical Genetics Subspecialties please search directly for;
Genetic outreach centres, located in Lethbridge, Medicine Hat and Red Deer, have genetic counsellors available to see patients and families closer to home. In cases where a geneticist MD is required, a geneticist from Calgary travels monthly to all sites to provide medical genetic consultations.

For more information visit the Clinical & Metabolic Genetics website.
Provides services for all Albertans across the lifespan who are at risk, or affected with a genetic condition(s). Individuals and families referred may include pregnant couples, newborns, children or adults.The Clinical Genetics team provides genetic assessment, screening, diagnosis, genetic counselling, and treatment (when available).

The Inherited Metabolic team provides diagnosis, lifelong treatment, monitoring, education and support for individuals and families impacted by metabolic conditions.

Both services focus on patient and family centred care and, as well, are actively involved in research to best support quality care for patients and families.

For additional information related to the specific services offered by Clinical Genetics Subspecialties please search directly for;
Genetic outreach centres, located in Lethbridge, Medicine Hat and Red Deer, have genetic counsellors available to see patients and families closer to home. In cases where a geneticist MD is required, a geneticist from Calgary travels monthly to all sites to provide medical genetic consultations.

For more information visit the Clinical & Metabolic Genetics website.
ROUTINE REFERRAL PROCESS
Completed referral form should be faxed as appropriate to:
  • Metabolic referrals: fax to 403-955-3091
  • Clinical Genetic Referrals fax to: 403-476-8752
  • Clinical Genetic referrals with immediate pregnancy implications, fax to: 403-943-8376.
The Southern Alberta Clinical and Metabolic Service accepts referrals from residents living Red Deer South.  Referrals are triaged in Calgary. Residents living in Red Deer, Lethbridge and Medicine Hat most often (exceptions exist) are seen through the outreach service.

Telehealth is often available for genetic counselling services.
Confirmation of referral receipt and estimated wait time (urgent <3 months, semi-urgent 3-12 months, priority routine 12-24 months and routine 24-36 months) will be sent by fax to the referring physician. Wait times may also vary by referral indication.
Completed referral form should be faxed as appropriate to:
  • Metabolic referrals: fax to 403-955-3091
  • Clinical Genetic Referrals fax to: 403-476-8752
  • Clinical Genetic referrals with immediate pregnancy implications, fax to: 403-943-8376.
The Southern Alberta Clinical and Metabolic Service accepts referrals from residents living Red Deer South.  Referrals are triaged in Calgary. Residents living in Red Deer, Lethbridge and Medicine Hat most often (exceptions exist) are seen through the outreach service.

Telehealth is often available for genetic counselling services.
Confirmation of referral receipt and estimated wait time (urgent <3 months, semi-urgent 3-12 months, priority routine 12-24 months and routine 24-36 months) will be sent by fax to the referring physician. Wait times may also vary by referral indication.
URGENT REFERRAL PROCESS
Please indicate on referral if "urgent" and fax complete referral form to number indicated below.

The following reasons for referral should be considered urgent:

1. A patient pregnancy where the genetic or family history concern may have implications on the pregnancy health or outcome.  
**Please fax these referrals to the Prenatal Genetics Clinic directly at 403-943-8376.
Antenatal care at Outreach locations is provided in coordination with the Prenatal Genetics Clinic in Calgary.
2. A genetic diagnosis will impact management/treatment decisions.
3. Newborns, less than one year of age.
4. Patient is palliative.

Please indicate on referral if "urgent" and fax complete referral form to number indicated below.

The following reasons for referral should be considered urgent:

1. A patient pregnancy where the genetic or family history concern may have implications on the pregnancy health or outcome.  
**Please fax these referrals to the Prenatal Genetics Clinic directly at 403-943-8376.
Antenatal care at Outreach locations is provided in coordination with the Prenatal Genetics Clinic in Calgary.
2. A genetic diagnosis will impact management/treatment decisions.
3. Newborns, less than one year of age.
4. Patient is palliative.

EMERGENCY REFERRAL PROCESS
Please call the Alberta Children's Hospital Switchboard at 403-955-7211 and ask to speak to either the Medical Geneticist on-call or the Metabolics physician on-call.
Please call the Alberta Children's Hospital Switchboard at 403-955-7211 and ask to speak to either the Medical Geneticist on-call or the Metabolics physician on-call.
ELIGIBILITY REQUIREMENTS

This service is available to individuals who are affected by, or at moderate to high risk for, inherited genetic conditions. Risk level is determined by evaluation of the medical and family history reported at the time of referral.

Reasons for which the Program may decline referrals currently includes:

1. Patient Resides Outside of Catchment Area: 

  • BC or SK patients who reside within the catchment of the Vancouver or Saskatoon Genetics Programs, or else who can receive care via telehealth by these programs (e.g. genetic counselling appointment only not requiring face-to-face appointment / physical exam).

2. Personal or Family history of Complex Trait / Multifactorial Condition, for exampole Celiac Disease and MTHFR.

3.  Request for Genetic Testing for the Following Indications:

  • Cystic Fibrosis testing: for male infertility in cases where the vas deferens is present,
  • Chromosomal microarray (CMA) testing: for children with isolated behavioural abnormality, neurodevelopmental delay, or intellectual disability, CMA can be ordered by pediatrician, 
  • Leber hereditary optic neuropathy genetic testing: for index patients, can be ordered by patient's ophthalmologist. 

Please refer to Genetic Laboratory Services Webpage:  Genetics and Genomics (formerly Genetic Lab Services)

Any patient found to have a positive genetic test result is subsequently eligible for consultation with the Clinical & Metabolic Genetics Program.

4. Direct-to-consumer genetic test results:

  • Patients found to have mutations in genes associated with monogenic conditions are eligible.
  • Patients found to have variants in genes associated with susceptibility for a complex trait are not eligible for a consultation with the Program.

5.  Personal or family history of hypermobility, including hypermobile Ehlers Danlos Syndrome.

6.  Pediatric patients who carry thalasemia and hemoglobinopathies:  Individuals of reproductive age, are eligible.  Patient-centered resources are available through MyHealthAlberta:

7. Non-medical indications:

  • paternity testing,
  • ancestry testing,
  • twin zygosity testing for information purposes.
  • limited or unknown family history.

This service is available to individuals who are affected by, or at moderate to high risk for, inherited genetic conditions. Risk level is determined by evaluation of the medical and family history reported at the time of referral.

Reasons for which the Program may decline referrals currently includes:

1. Patient Resides Outside of Catchment Area: 

  • BC or SK patients who reside within the catchment of the Vancouver or Saskatoon Genetics Programs, or else who can receive care via telehealth by these programs (e.g. genetic counselling appointment only not requiring face-to-face appointment / physical exam).

2. Personal or Family history of Complex Trait / Multifactorial Condition, for exampole Celiac Disease and MTHFR.

3.  Request for Genetic Testing for the Following Indications:

  • Cystic Fibrosis testing: for male infertility in cases where the vas deferens is present,
  • Chromosomal microarray (CMA) testing: for children with isolated behavioural abnormality, neurodevelopmental delay, or intellectual disability, CMA can be ordered by pediatrician, 
  • Leber hereditary optic neuropathy genetic testing: for index patients, can be ordered by patient's ophthalmologist. 

Please refer to Genetic Laboratory Services Webpage:  Genetics and Genomics (formerly Genetic Lab Services)

Any patient found to have a positive genetic test result is subsequently eligible for consultation with the Clinical & Metabolic Genetics Program.

4. Direct-to-consumer genetic test results:

  • Patients found to have mutations in genes associated with monogenic conditions are eligible.
  • Patients found to have variants in genes associated with susceptibility for a complex trait are not eligible for a consultation with the Program.

5.  Personal or family history of hypermobility, including hypermobile Ehlers Danlos Syndrome.

6.  Pediatric patients who carry thalasemia and hemoglobinopathies:  Individuals of reproductive age, are eligible.  Patient-centered resources are available through MyHealthAlberta:

7. Non-medical indications:

  • paternity testing,
  • ancestry testing,
  • twin zygosity testing for information purposes.
  • limited or unknown family history.
ADDITIONAL SERVICE DETAILS
Please encourage your referred patient to visit: www.ahs.ca/genetics. Excellent patient and physician resources are available on this site.

Patients may meet with a physician (clinical geneticist), a genetic counsellor, and/or a genetic nurse, depending on the referral reason.
As genetic testing is advancing, please re-refer any patient seen in the past who may benefit from a review of eligibility for further genetic testing.

If patient was seen in the past and no diagnosis was made, we are now requesting a re-referral as we are unable to maintain on-time scheduled follow-ups.
Please encourage your referred patient to visit: www.ahs.ca/genetics. Excellent patient and physician resources are available on this site.

Patients may meet with a physician (clinical geneticist), a genetic counsellor, and/or a genetic nurse, depending on the referral reason.
As genetic testing is advancing, please re-refer any patient seen in the past who may benefit from a review of eligibility for further genetic testing.

If patient was seen in the past and no diagnosis was made, we are now requesting a re-referral as we are unable to maintain on-time scheduled follow-ups.
COMMUNICATION PROCESS
  • Communication of referral receipt to referral source will occur within 14 calendar days.
  • Communication of appointment details or wait list status to patient and referral source will occur within 75 calendar days.
  • Communication of initial appointment outcomes to referral source will occur within 30 calendar days.
 
CLICK + TO VIEW REFERRAL GUIDELINES
Routine Reason for Referral
Access Targets convey the clinically appropriate timeframe patients should be seen within, by reason for referral and priority level.
Access Target
Required Information/Investigations
Timing
Additional Details
Connective tissue hereditary disorder
Cardiac investigation results, including:-Echocardiogram(s)-Cardiac MRI/MRA(s)-Imaging (x-rays, CTs, MRIs)- Specialist consultations not available on Nectar, including cardiology, respirology, orthopaedics, ophthalmology, genetics, rheumatology.
 
At time of referral.

Family history of relatives affected with connective tissue disorders, including full name and relation to patient referred.
 
At time of referral. Necessary for triage.

Ehlers-Danlos syndrome
Cardiac investigation results, including:-Echocardiogram(s)-Cardiac MRI/MRA(s)-Imaging (x-rays, CTs, MRIs)- Specialist consultations not available on Nectar, including cardiology, respirology, orthopaedics, ophthalmology, genetics, rheumatology.
 
At time of referral.

Family history of relatives affected with connective tissue disorders, including full name and relation to patient referred.
 
At time of referral. Necessary for triage.
Hypermobile EDS, also known as EDS Type III or Benign hypermobility syndrome, does not meet current inclusion criteria.  Such referrals will be declined by this service.

Familial abdominal aortic aneurysm
Cardiac investigation results, including:-Echocardiogram(s)-Cardiac MRI/MRA(s)-Imaging (x-rays, CTs, MRIs)- Specialist consultations not available on Nectar, including cardiology, respirology, orthopaedics, ophthalmology, genetics, rheumatology.
 
At time of referral.

Family history of relatives affected with connective tissue disorders, including full name and relation to patient referred.
 
At time of referral. Necessary for triage.
Please ensure an echocardiogram to evaluate aortic dimensions has been completed, and results made available to our clinic, prior to appointment.  For adult patients, we recommend North-Wes Cardio-Diagnostics.  For paediatric patients we recommend ACH Cardiology.

Family history of hereditary disease
Documentation of genetic diagnosis / testing in relative (where possible). Include names of affected family members and relationship to patient referred. May include cytogenetic (microarray), molecular and biochemical genetic test results.
 
At time of referral. Requirement for triage.

Family History Form
 
After referral; patient will be contacted to complete an online family history form
Assessment of patient's risk for a genetic condition present in the family (and potential genetic testing) is highly dependent on confirmation of that relative's diagnosis / genetic test result.
Preconception (woman/couple concerned about close relative affected by a genetic condition; presence of consanguinity between couple).

Genetic disorder carrier
Description of ethnicity. For example, Ashkenazi Jewish, French Canadian, Hutterite.
 
At time of referral.

Family history form
 
After referral; patient will be contacted to complete an online family history form

Test results relevant to reason for referral. Molecular genetic results, biochemical genetic results, or cytogenetic (microarray) test results. (eg, genetic test result, hemoglobinopathy screen)
 
At time of referral. Requirement for triage
1. Known carrier of a genetic condition (test results required).
2. Couples at increased risk for a child impacted by selected genetic condition(s) due to ethnicity (limited to: Ashkenazi Jewish population, French Canadians of the Saguenay-Lac-St-Jean/Charlevoix or Gaspesie Bas St. Laurent regions, Hutterite population)

Genetic susceptibility to cancer
Completed Family History FormPathology from any malignancies.Genetic testing results from any relatives diagnosed with a hereditary cancer syndrome.
 
AAt time of referral. Necessary for triage.

Confirmation of cancer diagnosis in patient, if applicable.
 
At time of referral. Necessary for triage.

Prior to triage, a completed Family History Form required (form available with Referral form)
 
At time of referral. Necessary for triage.
Referrals accompanied by a completed family history form are reviewed and triaged.  If a completed family history form does not accompany the referral, the patient is notified and provided with an online or paper version of this form.  If no family history form is returned, the referral is DECLINED.  Triage considers medical urgency as well as likelihood of a hereditary cancer syndrome based on reported personal and family history.

Genetic syndrome
Consultation report / test results relevant to reason for referral not available on Netcare.
 
At time of referral; required for triage

Family History Form
 
After referral; patient will be contacted to complete an online family history form

Molecular, cytogenetic (chromosomal microarray), and biochemical genetic test results
 
At time of referral; required for triage
Patient has been diagnosed or has features of a genetic condition, warranting a referral for genetic evaluation or genetic counselling +/- diagnosis.

Hereditary breast and ovarian cancer syndrome
Completed Family History FormPathology from any malignancies.Genetic testing results from any relatives diagnosed with a hereditary cancer syndrome.
 
At time of referral. Necessary for triage.

Confirmation of cancer diagnosis in patient, if applicable.
 
At time of referral. Necessary for triage.

Prior to triage, a completed Family History Form required (form available with Referral form)
 
At time of referral. Necessary for triage.
Referrals accompanied by a completed family history form are reviewed and triaged.  If a completed family history form does not accompany the referral, the patient is notified and provided with an online or paper version of this form.  If no family history form is returned, the referral is DECLINED.  Triage considers medical urgency as well as likelihood of a hereditary cancer syndrome based on reported personal and family history.

Loeys-Dietz syndrome
Cardiac investigation results, including:-Echocardiogram(s)-Cardiac MRI/MRA(s)-Imaging (x-rays, CTs, MRIs)- Specialist consultations not available on Nectar, including cardiology, respirology, orthopaedics, ophthalmology, genetics, rheumatology.
 
At time of referral.

Family history of relatives affected with connective tissue disorders, including full name and relation to patient referred.
 
At time of referral. Necessary for triage.
Please ensure an echocardiogram to evaluate aortic dimensions has been completed, and results made available to our clinic, prior to appointment.  For adult patients, we recommend North-Wes Cardio-Diagnostics.  For paediatric patients we recommend ACH Cardiology.

Lynch syndrome
Completed Family History FormPathology from any malignancies.Genetic testing results from any relatives diagnosed with a hereditary cancer syndrome.
 
At time of referral. Necessary for triage.

Confirmation of cancer diagnosis in patient, if applicable.
 
At time of referral. Necessary for triage.

Prior to triage, a completed Family History Form required (form available with Referral form)
 
At time of referral. Necessary for triage.
Referrals accompanied by a completed family history form are reviewed and triaged.  If a completed family history form does not accompany the referral, the patient is notified and provided with an online or paper version of this form.  If no family history form is returned, the referral is DECLINED.  Triage considers medical urgency as well as likelihood of a hereditary cancer syndrome based on reported personal and family history.

Marfan's syndrome
Cardiac investigation results, including:-Echocardiogram(s)-Cardiac MRI/MRA(s)-Imaging (x-rays, CTs, MRIs)- Specialist consultations not available on Nectar, including cardiology, respirology, orthopaedics, ophthalmology, genetics, rheumatology.
 
At time of referral.

Family history of relatives affected with connective tissue disorders, including full name and relation to patient referred.
 
At time of referral. Necessary for triage.
1. Please ensure an echocardiogram to evaluate aortic dimensions has been completed, and results made available to our clinic, prior to appointment.  For adult patients, we recommend North-West Cardio-Diagnostics.  For paediatric patients we recommend ACH Cardiology. 
2. Please refer your patient for an ophthalmology assessment if not already done.
PATIENT APPOINTMENT INFORMATION
 
MISSED APPOINTMENT GUIDELINES
Missed appointments are minimized by requiring a re-referral after two missed appointments. (ACH Outpatient Principle inPractice, 6.8)
Missed appointments are minimized by requiring a re-referral after two missed appointments. (ACH Outpatient Principle inPractice, 6.8)
 
HOURS OF OPERATION
Monday: 8:00 am - 4:00 pm
Tuesday: 8:00 am - 4:00 pm
Wednesday: 8:00 am - 4:00 pm
Thursday: 8:00 am - 4:00 pm
Friday: 8:00 am - 4:00 pm
   
 
ADDRESS
Level 3, Clinical Genetics and Level 3, Inherited Metabolic Disorders Clinic
28 Oki Drive NW
Calgary Alberta
T3B 6A8
PATIENT APPOINTMENT INSTRUCTIONS
  • Bring your Alberta health care card and a piece of government issued photo ID.
  • Check in at reception 15 minutes prior to your scheduled appointment time.
  • You may bring a family member or significant other during your consultation.
  • Please make sure to have someone with you if you are unable to communicate in English.
  • Bring your Alberta health care card and a piece of government issued photo ID.
  • Check in at reception 15 minutes prior to your scheduled appointment time.
  • You may bring a family member or significant other during your consultation.
  • Please make sure to have someone with you if you are unable to communicate in English.
 
DIRECTIONS
Clinical Genetics is located on the 3rd floor of ACH. When you come off the main bank of elevators, please turn left and follow the overhead signs which say Clinical Genetics, all the way to the end of the hallway.
Inherited Metabolics is next to Clinical Genetics. Please check in at the reception desk just before Clinical Genetics for "GI, Endocrine, Diabetes, Metabolics, Gynecological Clinics."

Alberta Children's Hospital is located on the corner of 24 Avenue NW and West Campus Drive NW.

Clinical Genetics is located on the 3rd floor of ACH. When you come off the main bank of elevators, please turn left and follow the overhead signs which say Clinical Genetics, all the way to the end of the hallway.
Inherited Metabolics is next to Clinical Genetics. Please check in at the reception desk just before Clinical Genetics for "GI, Endocrine, Diabetes, Metabolics, Gynecological Clinics."

Alberta Children's Hospital is located on the corner of 24 Avenue NW and West Campus Drive NW.

 
PHONE
403-955-7373 (Clinical Genetics)
403-955-7587 (Inherited Metabolics)
 
PARKING INSTRUCTIONS
Rates apply 24 hours per day, and are in effect for all public parkers, including those with provincially issued placards for persons with disabilities.
Paystations accept Canadian coins, Canadian bills or credit card (Visa, MasterCard, and American Express).
Parking Office and Kiosk accept payment by cash, credit card, debit or cheque.
Rates apply 24 hours per day, and are in effect for all public parkers, including those with provincially issued placards for persons with disabilities.
Paystations accept Canadian coins, Canadian bills or credit card (Visa, MasterCard, and American Express).
Parking Office and Kiosk accept payment by cash, credit card, debit or cheque.
 
VIRTUAL APPOINTMENT INFORMATION
 
PARKING MAP
 
WHEELCHAIR ACCESSIBILITY
Yes

Main entrance

Elevator accessible onsite


The primary purpose of the All Locations list is to let the user easily access any location of a healthcare service without going back to the main search screen.

The locations listed have 3 background colors:
  • Green means the healthcare service@location has referral information attached to it.
  • Brown means the healthcare service@location never had referral information attached to it, or it has unpublished referral information.
  • Red means
    • IA changed the healthcare service@location's status to something other than Current
    • It was deleted if it is an ARD healthcare service@location.
Green  and Brown are always at the top of the list. These are the Healthcare Service@Locations with the status of Current.
The Red list at the bottom consists of non-current Healthcare Service@locations that once had Published referral information in the ARD.
If the referral information was never published in ARD the Healthcare Service@location will not show in the Red list.

The secondary purpose of the All Locations list is to allow ARD Administrators to recover (copy) referral information from the non-current Healthcare Service@Locations to ones that are current.

Common Scenario:
A Healthcare Service moves from one location to another. In this case the IA Healthcare Service@Location record will be made defunct (non-current) and a new Healthcare Service@Location record will be created with a current status. In this scenario the captured referral guidelines in ARD can become "orphaned" as they are not attached to any current IA healthcare service.

Categories of non-current or orphaned referral guidelines: INDIVIDUAL and COMMON.
The REFERRAL GUIDELINES section of the profile has the prefix INDIVIDUAL or COMMON to help you choose the method below when transferring referral guidelines from a non-current Healthcare Service@Location to a current healthcare service@location.

Individual referral process
  1. Click on a non-current (Red) Healthcare Service@Location at the bottom of the All Locations list.
  2. The non-current referral info is displayed with the link Copy this Referral Process to another Healthcare Service@Location link on the upper right hand corner. Click on the copy link.
  3. Choose a current location (Green or Brown) from the All Locations list. This will be the Healthcare Service@Location you are pasting the referral info into.
  4. The system will display the Edit Referral Info screen populated with the referral info from the non-current Healthcare Service@Location you viewed in the first step.
  5. Click Save and the referral info is transferred from the non-current Healthcare Service@Location to the current one.
  6. Repeat these steps for each Healthcare Service@Location that needs attention.

Common referral process - 2 sub cases.
Case 1: At least 1 current Healthcare Service@Location with common referral info is with current status for this healthcare service; One or more Healthcare Healthcare Service@Locations where replaced by new one.
  1. Click on any current Healthcare Service@Location whether it has referral info (Green) or not (Brown).
  2. The healthcare service location opens in the Edit Referral Info screen populated with the current common referral info.
  3. Save it. 
  4. All locations will be updated with the common referral information, including all the locations that don't have referral info yet (Brown). The non-current referrals (Red) will also be updated.
Case 2:  All Healthcare Healthcare Service@Locations for a healthcare service are set to a non-current status and replaced by new ones. In this case there is no current additional referral info to copy from, so the only alternative is to pick up the non-current common referral process (Red). Follow the steps described in the section Individual Referral Process above to copy/paste the non-current common referral info to the current healthcare service locations.
Generally we want to replicate current common referral info to new or replaced healthcare service locations. We only resort to copying non-current common referral info if there is no other option.

Remember: Some fields can be location specific with the common referral process:
Parking Instructions, Directions, Parking Map, Wait Time, Referral Phone or Referral Fax.
To update these items you have to edit each Healthcare Service@Location separately.

ADDITONAL NOTES:
  • The info icon after the All Locations drop down will be visible to ARD Administrators.
  • The system doesn't allow you to copy referral information from one non-current Healthcare Service@Location to another.

 

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