The Genetics and Metabolics Program offers clinical genetic and metabolic genetic diagnostic work-up and assessment and genetic counselling. We also act as a regional follow-up and treatment centre for newborns with positive newborn screening results. As a regional program, we provide clinical care for both pediatric and adult populations. Within our program, we provide diagnostic assessment for clinical and metabolic genetic conditions, coordinate and interpret genetic testing, provide family counselling, and give information regarding management and long-term outcomes for individuals diagnosed with genetic conditions. The Ontario Health Insurance Plan (OHIP) generally covers our clinical and diagnostic assessment services. We are not a research program, though we may offer access to clinical research studies in some situations.
Our goal is to make a difference in the health outcomes of our patients, as advances in understanding the genetic mechanisms allow us to provide early intervention to minimize disease severity, provide new treatments, and provide counseling and discuss options for family planning as it relates to genetic conditions in a family.
Care We Provide
Clinical Genetics Service
- Physician assessment and diagnosis of genetic conditions (birth defects, other physical differences, developmental delay, short stature, possible syndromes)
- Diagnostic testing (blood, cheek swab / saliva, urine testing)
- Genetic counselling (including family history indications, new diagnoses of genetic conditions, consanguinity)
Metabolic Genetic Service
- Physician assessment and diagnosis of metabolic genetic conditions
- Diagnostic testing (blood work and/or urine testing)
- Long term follow-up and management of metabolic genetic conditions (diet therapy, enzyme therapy)
- Genetic counselling for metabolic genetic conditions (including family history indications, new diagnoses of genetic conditions, consanguinity)
Newborn Screening
- Diagnostic follow-up testing (blood work and/or urine testing) for positive newborn screens for our region from the Newborn Screening Ontario program
- Follow-up counselling and information provision about newborn screening results
- Long-term follow-up and treatment with specialists, as required
Team Members
Our team consists of:
- Physicians – clinical geneticists and metabolic geneticists (also called biochemical geneticists)
- genetic counsellors
- registered dietitians
- registered nurse
- social worker
- administrative staff
- medical learners
Patient Information
How to prepare:
- Please bring any relevant information about your family history to help us draw your family tree (medical conditions/illnesses, miscarriages, cancer, birth defects, sudden deaths) including information about your immediate and extended family (cousins, grandparents, aunts and uncles)
What to bring:
- The health card of the patient being seen, and also the health cards of other family members attending the visit because sometimes it is important to test family members as well.
- Any test results for yourself or your family members, especially results of genetic testing.
- Make sure that the patient is present at the initial consult and any follow up visits.
- If possible, both parents should attend their child’s first visit
- If you are being seen for genetic counselling related to family planning, please bring your partner if possible.
During your visit:
- You will be seen by a physician, and in many cases by a genetic counsellor. If you are being seen by the metabolic genetics service you may also be seen by a dietitian, nurse, or social worker.
- Genetic testing and/or other investigations may be offered to you. This typically involves a blood, buccal (cheek swab), saliva, and/or urine sample. Genetic testing offered through the clinic is usually covered by OHIP and you can make a decision on whether you would like to proceed with genetic testing after discussing test information and options.
After your visit:
- Genetic testing results may take up to 4-6 months. You will be contacted for a follow-up appointment when your results are available
Patient FAQs
Will I/my child have blood work completed?
Some patients will have blood work or other testing completed following their visit. The testing that is offered depends on the assessment during your visit.
Do I need to bring my child?
Yes, if the referral is for your child, please bring them for all visits.
How long will my appointment be?
Most appointments are one hour. If blood work or other testing is ordered, you may be at the hospital for 2-3 hours.
Do I need to be fasting for my blood work?
Typically, fasting is not required for blood work.
Why am I being referred?
Reasons for referral may vary. Please contact your referring doctor if you are unsure about the reason for your visit.
Can I be seen sooner?
Certain referrals are given priority appointments (pregnancy at risk, sudden deterioration in clinical status or developmental regression). If one of these applies to you/ your child, be sure that your referring/ family doctor indicates this on the referral.
Please contact the clinic if you can be available to be seen on short notice (within 24 hours) and we can add you to our cancellation list.
The genetics clinics are not for emergencies. If you/your child needs to be seen on an emergent basis, please contact your family doctor or go to your local emergency department.
Referring Provider Information
A physician, nurse practitioner or mid-wife referral is required for the first visit with a geneticist or genetic counselor. Please note that our triage team determines the urgency in which referrals are to be seen. View our Referral Form.
Wait Times
Current wait times for NON-URGENT referrals are:
- Clinical Genetics – 9-12 months
- Metabolic Genetics – 2-4 months
- Genetic Counselling – 2-4 months
Current wait times for SEMI-URGENT referrals are:
- Clinical Genetics – 2-3 months
- Metabolic Genetics – 1 month
URGENT referrals are seen within:
- Clinical Genetics – 1-2 weeks
- Metabolic Genetics – 1 week, but quicker assessment is available if necessary (referring provider may page the metabolic doctor on call 24/7 at 905-521-5030 if assessment / advice is needed sooner than 1 weeks’ time)
- Genetic Counselling – 1-2 weeks
Referral Criteria
Individuals meeting any of the following criteria should be considered for referral to a genetic specialist:
- Congenital anomalies (birth defects) and/or major organ defects (e.g. congenital heart defect)
- Developmental delays or regression, intellectual disability, autism
- Unexplained health issues with multiple body systems involved
- Short stature (<3rd percentile), failure to thrive; overgrowth
- Family history concerns (e.g. intellectual disability/developmental delay, known genetic condition, birth defects, stillbirth, early-onset dementia, sudden death, etc.)
- Consanguinity (couples who are related to each other by blood) or couples who come from an ethnic group with a high rate of genetic disorders.
In order to optimize our service for some indications, we will ask for additional information and/or an alternative service may be suggested in some situations:
- For referrals related to a chromosomal microarray abnormality, we ask that you arrange the follow-up blood work on both of the patient’s biological parents, if possible (the follow-up recommendations are included in your patient’s cytogenetic report with details about the requested samples). These parental results are important for the interpretation of your patient’s results.
- For referrals related to a family history of a genetic condition, please include clinical details about the affected family member and indicate whether family members have been previously assessed by our clinic. Please provide a copy of the genetic testing result for the affected family member if it is available.
- For referrals related to Marfan syndrome, we ask you to arrange 1) an echocardiogram with measurement of the aortic root/ascending aorta diameter, and 2) an ophthalmology or optometry assessment to look for lens subluxation/dislocation.
- For referrals related to Alzheimer’s disease/ family history of Alzheimer’s disease, please include a copy of a brain MRI (if available), as well as details about the age of onset of dementia for your patient and their affected relatives.
- For referrals related to diagnostic work-up for Hemophilia, please refer to a hematologist. However, we would be happy to see individuals for genetic counselling about a family history of diagnosed hemophilia. Please include details about the affected family member and provide a copy of their genetic testing result if it is available.
Alternative Services
Please note that our clinic may not be the most appropriate resource for all referrals. Alternative services are available for your patients:
- For referrals related to Hemochromatosis/iron overload please refer to a hematologist.
- For referrals related to Thrombophilia please refer to a hematologist.
- For referrals related to prenatal diagnosis (including positive prenatal screening, abnormal ultrasound findings, or currently pregnant with a previous pregnancy with a birth defect, chromosome abnormality, or genetic condition), please direct your referral to the Prenatal Diagnosis Clinic (Tel #: 905-521-2100 x73135, Fax #: 905-521-4955).
- For referrals related to hereditary cancer syndromes, please direct your referral to the Cancer Genetics Clinic at the Juravinski Cancer Centre (Tel #: 905-521-2100 x64636, Fax # 905-575-6316).
- For referrals related to neuromuscular and mitochondrial disorders, please direct your referral to the Neuromuscular Clinic (Tel #: 905-521-2100 x77933, Fax #:905-521-2638).
- For referrals related to recurrent miscarriage/infertility, please order a karyotype for both members of the couple and consider a referral to a fertility clinic.
- For referrals related to adults with isolated hypermobility/ query Ehlers Danlos Syndrome Hypermobility Type, please consider referring your patient to the Ehlers Danlos Syndrome Program at Toronto General Hospital (Tel #: 416-340-4800 ext 6536, Fax # 416-340-3792).
