Clinical and Metabolic Genetics Services
The
Clinical and Metabolic Genetics program cares for people with genetic conditions and their family members. Genetic healthcare professionals see people who:
- are diagnosed with a
genetic condition
- have a child or pregnancy with a genetic condition or
congenital anomalies
- have a higher risk of developing a genetic condition during their lifetime
Genetic healthcare professionals meet with pregnant individuals or couples, infants, children, youth, and adults.
The Clinical and Metabolic Genetics program offers diagnosis, treatment, follow-up, education,
genetic counselling, and support services. They also do research to improve care for patients and families.
The program includes specialty clinics with teams that are highly specialized in rare genetic conditions. Many families see a team of healthcare providers (called a clinic) that focuses on a certain area of genetics. Some of these specialty clinics are described below.
Not everyone meets the criteria for a referral to genetics. If you want to know if you meet the criteria, talk to your doctor or nurse practitioner.
Cardiogenetics and cardiovascular genetics
Cardiogenetics deals with heart conditions that have a genetic cause. This includes genetic conditions affecting the heart muscle (inherited cardiomyopathies) and affecting the heart rhythm (inherited arrhythmias).
Cardiovascular genetics deals with genetic conditions affecting the vascular or circulatory system, which includes the arteries, veins, and capillaries that work together to deliver oxygen and nutrients throughout the body.
The cardiogenetics and cardiovascular genetics team includes medical geneticists, cardiologists (heart and blood vessel specialists), genetic counsellors, and genetic assistants. They provide assessment, diagnosis, support, and education to individuals and families with a known or suspected genetic condition.
To see the cardiogenetics and cardiovascular genetics team, you must either have an existing cardiac diagnosis or have a family history of a cardiac genetic condition with an identified
pathogenic variant.
General genetics
The General Genetics Clinic deals with all genetic conditions not suitable for the other specialized clinics.
The General Genetics Clinic involves medical geneticists, genetic counsellors, and genetic assistants. They provide assessment, diagnosis, support, and education to individuals and families with a known or suspected genetic condition.
Hereditary cancer genetics
Most cancers are caused by many factors that happen over the course of a lifetime. These factors can include age, lifestyle, environment, chance, and family history.
Some cancers are called hereditary, meaning that they are caused by a
pathogenic variant. Some of our genes play a role in preventing cancer. Having a pathogenic variant in one of these genes stops the gene from working well. This means you will have a higher-than-average chance to develop cancer.
Hereditary cancer is not common. About 5 to 10 out of 100 people with cancer have a pathogenic variant in a hereditary cancer gene.
The Hereditary Cancer Clinic has a team of medical geneticists, genetic counsellors, and genetic assistants who assess the likelihood of a hereditary cancer condition given the history of cancer.
Hereditary endocrine genetics
The Hereditary Endocrine Clinic deals with genetic conditions affecting the
endocrine system. The endocrine system is the network of glands in the body that create and release hormones. The endocrine system is involved in:
- maintaining blood pressure
- regulating metabolism, blood sugar, and body temperature
- regulating growth and development, sexual function, and reproduction
- regulating mood and the sleep-wake system
Hereditary endocrine conditions happen when a
pathogenic variant disrupts the balance of the endocrine system.
The Hereditary Endocrine Clinic involves medical geneticists, endocrinologists (endocrine system specialists), endocrine surgeons, genetic counsellors, and genetic assistants. They provide assessment, diagnosis, support, and education to individuals and families with a known or suspected endocrine genetic condition.
Metabolic genetics
Metabolic genetics deals with metabolism, which are the chemical reactions in the body's cells. Some of these reactions are involved in changing food into energy, while others are involved in maintaining cell integrity and health.
Specific proteins in the body control the chemical reactions of metabolism. Thousands of metabolic reactions happen at the same time to keep our cells healthy and working. A metabolic condition happens when a
pathogenic variant causes an error in metabolism.
The metabolic genetics team includes doctors (called metabolic geneticists), nurses, dietitians, genetic counsellors, and genetic assistants. They provide assessment, diagnosis, treatment, monitoring, and education to individuals and their families with inherited metabolic conditions.
Neurogenetics
The Neurogenetics Clinic deals with genetic conditions affecting the
nervous system. The nervous system includes the brain, spinal cord, and nerves. It is a communication network that is responsible for controlling and coordinating body functions. Neurogenetic conditions happen when a
pathogenic variant disrupts the nervous system. Examples of neurogenetic conditions include
Huntington disease, spinal muscular atrophy, and Duchenne/Becker muscular dystrophy.
The Neurogenetics Clinic involves medical geneticists, neurologists, genetic counsellors, and genetic assistants. They provide assessment, diagnosis, support, and education to individuals and families with a known or suspected neurogenetic condition.
To see the Neurogenetics Clinic, you must either have an existing neurologic diagnosis or have a family history of a neurogenetic condition with an identified pathogenic variant.
Ophthalmogenetics
The Ophthalmogenetics Clinic deals with genetic conditions affecting the eyes. Ophthalmogenetic conditions happen when a
pathogenic variant disrupts vision. Ophthalmogenetics is also called ocular genetics.
The Ophthalmogenetics Clinic involves medical geneticists,
ophthalmologists, genetic counsellors, and genetic assistants. They provide assessment, diagnosis, support, and education to individuals and families with a known or suspected ophthalmogenetic condition.
To see the Ophthalmogenetics Clinic, you must either have an existing diagnosis of an eye condition that could be caused by a pathogenic variant or have a family history of an ophthalmogenetic condition with an identified pathogenic variant.
Prenatal genetics
Prenatal genetics deals with genetic conditions or
congenital anomalies that can be identified or tested for during a pregnancy.
Everyone, regardless of age, family history, or ethnic background, has a chance of having a baby with a congenital anomaly or genetic condition. Most babies with these conditions are born to healthy couples with no family history of the condition. However, having a family history of a genetic condition or certain health concerns in the parents can increase the chance of having a baby born with a congenital anomaly or genetic condition.
The prenatal genetics team includes medical geneticists, genetic counsellors, and genetic assistants. They provide assessment, diagnosis, support, and education to individuals and couples with pregnancies, or planning a pregnancy, who have an increased chance for genetic conditions or congenital anomalies.
Appointments for counselling before a pregnancy (called preconception counselling) may be offered through the Prenatal Genetics Clinic or through another clinic, depending on the genetic condition and circumstances.
