Clinical and Metabolic Genetic Program

The Clinical and Metabolic Genetics Program cares for people with genetic conditions and their family members during all parts of the life cycle. Genetic healthcare professionals meet with pregnant couples, infants, children, youth, and adults. Genetic healthcare professionals see people who:

• are diagnosed with a genetic condition
• have a child with a genetic condition or birth defects
• have higher risk of developing a genetic condition during their lifetime

Our program focuses on patient and family-centered care and offers diagnosis, treatment, follow-up, education, genetic counselling, and support services. We also do research to improve the quality of care that we give to our patients and families.

The Clinical and Metabolic Genetics team includes:

• doctors called geneticists, who specialize in genetics and genetic conditions
• genetic counsellors
• registered nurses, dietitians, pharmacists and social workers

The Clinical and Metabolic Genetics Program includes general genetics clinics and 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.

Prenatal Genetics Clinic

The Prenatal Genetics Clinic provides support and information to pregnant women, couples, and family members who are more likely to have a pregnancy, or a child with a birth defect or genetic condition. The team meets with women and couples to help them better understand the results of tests done during pregnancy (called prenatal investigations) that may result in a diagnosis of a genetic condition or birth defect. The clinic also supports women and couples to help them make personal decisions about their pregnancy options and care.

Inherited Metabolic Disorders Clinic

The Inherited Metabolic Disorders team sees patients and families with inherited or genetic metabolic conditions (disorders) and helps them understand the impact of metabolic conditions on their health and well-being. This clinic also cares for patients with metabolic conditions that can be treated. This clinic also supports Alberta’s Newborn Metabolic Screening Program that screens babies for some health conditions at the time of birth.

Cardiogenetics Clinic

The Cardiogenetics Clinic offers genetic assessment, diagnosis, and genetic counselling to Albertans who have a diagnosis of, or are at risk for, a genetic heart condition. Examples of genetic heart conditions include familial cardiomyopathies and inherited arrhythmias, such as long QT syndrome and hypertrophic cardiomyopathy.

Connective Tissue Disorders Clinic

The Connective Tissue Disorders Clinic supports patients with different types of health concerns related to connective tissue, which includes the skin, joints and blood vessels. Examples of connective tissue conditions (disorders) include Marfan syndrome and Loeys-Dietz syndrome.

Ocular Genetics Clinic (Ophthalmology Genetics)

The Ocular Genetics Clinic sees patients who have, or are at risk to develop, a genetic or inherited eye disease. Examples of genetic eye conditions include Lebers optic atrophy and congenital cataracts.

Hereditary Cancer Clinic

The Hereditary Cancer Clinic sees people with a personal or family history of certain types of cancer that may be linked to a genetic condition, called a hereditary cancer syndrome. The clinic offers a hereditary cancer risk assessment, genetic counselling about hereditary cancer syndromes, and information about genetic testing.

Neurogenetics Clinic

The Neurogenetics Clinic supports people who have, or are at risk to develop an inherited neurologic or neuromuscular condition. Examples of neurogenetic conditions include Huntington disease, myotonic dystrophy and hereditary spastic paraparesis.

General Genetic Clinic

The General Genetic Clinic sees people who may have a rare genetic condition and need to see a geneticist to make a diagnosis. They also see people who have already been diagnosed with a genetic condition and want to learn more about how the condition may affect them and other members of their family.

The clinic also sees people who have a family history of a genetic condition who want to understand the chance of developing signs of that genetic condition in the future, or of having a child with the genetic condition. This clinic often provides information and support to help deal with the diagnosis of a genetic condition.