Genetics

Your physician may refer you for a genetics appointment for the following reasons:

• You have been diagnosed with a genetic condition.
• You have medical problems that suggest a genetic condition.
• You have a confirmed family history of a genetic condition and you are concerned about what it might mean for you or your children.
• You have questions about family planning because of a genetic condition in your family or your partner's family.

Many genetic conditions are very rare. We offer care for genetic conditions and specialize in the following:

• Connective tissue disorders (such as Marfan syndrome or Loeys-Dietz syndrome).
• Heart disease such (such as hypertrophic cardiomyopathy, long QT syndrome or arrhythmogenic right ventricular cardiomyopathy).
• Kidney disease (such as polycystic kidney disease).
• Eye disease (such as retinitis pigmentosa or Stargardt’s disease).
• Metabolic disease (such as Fabry disease, glycogen storage disease or mucopolysaccharidoses).
• Neurological disorders (such as spinocerebellar ataxia, hereditary spastic paraparesis, Charcot-Marie-Tooth disease).

If you are seeking assessment and counselling for hereditary breast or ovarian cancer, contact the Familial Breast Cancer Clinic. If you are seeking genetic counselling for colon cancer, contact the hereditary gastrointestinal cancer clinic.

What to expect

During your first appointment, your physician will perform a physical examination. You will also meet with a genetic counsellor who will ask you about your health and any family members who have been diagnosed with a genetic condition.

Your genetic counsellor will talk to you about your chances of inheriting a genetic condition or passing it on to your children. You may also be offered testing to diagnose a genetic condition or to assess your level of risk for related health conditions.  

Based on your test results, we may provide ongoing care to help manage your genetic condition.

What to bring

• Health (OHIP) card or valid health-care coverage
• A list of medications you are using
• Information about your medical and family history
• A list of questions you want to ask

How to access our services

We accept referrals from primary care providers and other specialists.  

To refer a patient to our clinic, please fill out the referral form and include the following information:

• All genetic testing results
• A referral letter/consult note(s)
• Copies of previous investigations/other laboratory results
• Records of family members, if relevant to the referral and with consent