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Child & Adult Assessment

About our Service


 We are geneticists, genetic counsellors, support staff, and learners. We serve individuals and families from BC and the Yukon. 


We are a consultative service that focuses on clarifying diagnoses and providing genetic counselling for rare and difficult to diagnose genetic conditions while also contributing to education and research. 

Appointments are provided, in person or by telehealth via phone or video conference. Medical Genetics also provides outreach clinics to Kelowna and Prince George.

If you need to change or cancel your appointment, please notify the secretary at least 1 week in advance in order to allow us to see another patient at this time.

Our service also provides telephone consultations to specialists, pediatricians, family physicians, and nurse practitioners. If other assessments are required and the patient lives outside of the lower mainland, we will try to schedule them for the same day or as close to the clinic appointment as possible. You can assist us with this by making sure that we know which other physicians and programs you are involved with at BC Children's Hospital and when you are due to be seen.

Related services

Individuals located on Vancouver Island should typically be referred to the Vancouver Island Department of Medical Genetics for care.

Children with suspected inborn errors of metabolism or metabolic conditions should typically be referred first to the Biochemical Genetics clinic for care.

 Individuals age 18 or older with suspected hereditary cancer should typically be referred first to the Hereditary Cancer Program for assessment.

Our Education and Research 

We provide talks to other health providers and large groups to help educate our communities, and we host a residency program and genetic counselling program to help shape the next generation of genetics care. Medical genetics is a developing field, and research is important. For some patients, there may be further options to participate in research.

The sections below provide answers to some common questions about what to expect from a clinical genetics appointment. Click on each question for more information:
  • Genetic counselling aims to help families understand a diagnosis by providing information, and supporting understanding and decision making. Topics discussed may include information about a genetic condition, management or care options, the chances the condition could affect family members, and options for family planning. The goal of genetic counselling is to help individuals and families understand and adapt to the medical, psychological, and familial implications of how genetics affects health and wellbeing. 
  • Genetic testing is a type of medical test that identifies variations in genes or chromosomes. The results of genetic testing can help to clarify whether there is a genetic diagnosis. In some instances when there is a known genetic condition in the family, genetic testing may be used to identify which relatives may also have a chance to have or develop that genetic condition. Genetic testing may provide clear answers, but in some cases test results may be limited or uncertain. Genetic testing is always optional.  
  • If a patient is referred for assessment due to a genetic condition in the family, specific information about that condition helps to provide the best care. Thus, we ask the families to collect a signed release of information form from the affected relative so we can access appropriate medical records. Our patients are also asked to complete a questionnaire prior to the appointment. To obtain an accurate family history, we suggest that you talk to your relatives about their health when completing the family history form. 

  • Wait times vary and can be determined based on the reason for your referral. If a new reason for possible urgency arises during your wait time (ex. Your assessment regards recurrence chances, and there is new pregnancy in the family) please let your referring provider know as you may be triaged more urgently.  


A consultation may involve:

  • A review of the patient and family histories
  • A physical exam of the patient
  • Investigations including bloodwork or imaging
  • Discussions about genetic testing options
  • Genetic counselling 


  • For some patients a definitive answer is not yet possible at the time of the consultation. Genetic technologies and world knowledge continue to improve. Thus, families provided incorrect or uncertain results are invited to periodically seek reassessment. It is also important to keep our program updated when a patient's personal or family history changes.


Your Appointment

What to Expect at an Appointment? 

Our booking clerk will contact the patient by phone to book an appointment. The clinic appointment may last up to 1-1.5 hours. Depending on the reason for referral, patients may meet with a geneticist only, a genetic counsellor only, or both. As our site is a teaching hospital, a learner may also be involved. 

Prior to your appointment, you may be asked to fill in a questionnaire and/or provide photos. 

At the appointment, please check in with our receptionist and have ready:

  • Care Card or other health care coverage and picture ID for the referred patient and each individual participating in the appointment
  • Current address and phone numbers
  • Names of the patient's family doctor and other health care professionals involved in care
  • Emergency contact information

During the appointment, the medical and family history will be reviewed. A physical exam may be performed, depending on the reason for the clinic visit. We will discuss the possible causes of the patient or their child's condition and the options available for testing. If a diagnosis is made, we will make further recommendations and suggest resources. A summary letter will be sent to the provided health care professionals.

If the appointment is by phone or telehealth, please ensure the patient is in a quiet and private place before starting the appointment.

For information on genetic testing, click here:

If the consultation is about a concern in a family member(s), the patient should request the relative to sign the release of information form. Ideally, they are provided to our program at least 2 weeks prior to the appointment.  

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