Medical Genetics Child & Adult Assessment

The Provincial Medical Genetics Program provides children and adults, including pregnant people, with personalized information, support and care to help them make informed decisions about their genetic conditions.
The clinic focuses on assessing genetic risk and ensuring that patients understand their options and results in a compassionate and respectful environment.  

We serve patients from across British Columbia and the Yukon, excluding Vancouver Island residents who are served by the Victoria Genetics Clinic.​

Patient eligibility

While this is not an exhaustive list, some of the reasons to refer a patient to the Provincial Medical Genetics Program for child and adult assessment may include:
  • Individuals with congenital anomalies
  • Individuals with differences in a single body system that are suspected to be due to a genetic mechanism (i.e. sensorineural hearing loss, short stature)
  • Individuals with a suspected genetic syndrome (multiple physical differences, developmental/cognitive impairments and/or differences in growth)
  • Individuals with moderate to severe intellectual disability
  • Individuals at risk due to a family history of a genetic condition
  • Individuals suspected to have a genetic connective tissue disorder(s)
  • Children with concern for cancer predisposition
  • Couples at risk of having a child with a genetic condition
  • Individuals who have had genomic testing in a clinically approved lab and were found to have variants which require further interpretation

​Referral overview

Individuals need a referral from their health care provider, such as a family doctor, nurse practitioner, midwife or specialist, to access care at this clinic. 

Note, we have a separate referral process for Pregnancy Assessments​.

Referral steps​

1Assessment

Review the referral form in detail, ensuring all recommended testing has been completed as required. 
As you complete the referral form, clearly outline the clinical question for genetics. Please include relevant clinic notes and any investigations performed, completed and pending.  

Notes for specific indications:
  • Referrals for family history of a genetic condition: please include supportive medical documentation on the affected family member
  • Referrals for hemoglobinopathy: please include the results of the hemoglobinopathy screening for both members of the couple. Please note, we cannot see couples for prenatal counselling for this indication without this information
  • Referrals for Marfan Syndrome: please include an assessment of the Systemic Score, a copy of their ophthalmology assessment and an echocardiogram (note: an echocardiogram is not required for pediatric patients)
  • Referrals for hearing loss: please include a copy of GJB2 testing​, audiology reports and Ear Nose and Throat consult letters​

3Submit the completed referral form

Fax your completed referral form to the Provincial Medical Genetics Program at: 604-875-2825 

4Review and triage of referral

A team of health care providers within the program reviews referrals. We prioritize referrals based on urgency to ensure timely care based on the information provided on the referral form. 

Fax questions about past triage decisions or additional information relevant for triage decision-making to the Provincial Medical Genetics Program at: 604-875-2825 

5Post referral

If we accept a referral, our clinic’s booking clerks will contact the patient directly to schedule an appointment, either in person or virtually.  

If we decline the referral, we will notify the referring provider via fax, including details such as the reason we declined the referral, more appropriate services for the patient and/or direction on providing care or further testing.  

Wait times vary based on referral urgency and clinic capacity. For the most up-to-date information on wait times, please contact our office at 604-875-2157 or review the Pathways website​. When discussing referrals to our clinic with your patients, we encourage you to share wait times information to help establish accurate expectations.

Provider queries

Fax questions about past triage decisions or additional information relevant for triage decision-making to the Provincial Medical Genetics Program at: 604-875-2825  

Providers with questions about their patient’s referral status can also phone our clinic’s front desk at: 604-875-2157 

Reasons we may decline a referral include:
  • The referral package does not contain sufficient information to enable triage 
  • The genetic work-up/variant interpretation is in progress 
  • Genetic care is better provided by another service 
  • The patient’s carrier status does not impact their health or reproductive implications 
  • The genetic investigations for your patient have not yielded a diagnosis 
  • The referred patient is not the affected individual 
  • The referral indication is for a condition that is not within our current scope of practice 
  • Family planning is for a consanguineous union in the absence of a concerning history 
  • Patient requires facilitation or review of pharmacogenomic testing 
  • Criteria for hemoglobinopathies are not met 

​Contact information

Our hours of service are from Monday to Friday, 8 a.m. to 4 p.m.

Address

BC Women’s Hospital + Health Centre, Entrance #77
Medical Genetics Clinic​
Main floor, Room C234
4500 Oak Street
Vancouver, BC
V6H 3N1 

Phone: 604-875-2157 
Fax: 604-875-2825​​