The Department of Medical Genetics has established a care model based on interdisciplinary and multidisciplinary teams (bringing professionals together from different disciplines), and collaboration with other departments within the MUHC and other health centres. We work closely with the genetics laboratories within the MUHC, and have access to genetic laboratory services worldwide.
During a visit to the Medical Genetics Service, patients will have a genetic assessment, which may include a physical exam, various tests and when indicated, genetic testing. Treatment for some of these disorders is improving. For example, more and more, enzyme therapy for rare metabolic diseases is becoming a reality, and our patients are beginning to participate in clinical trials.
For congenital malformations identified prenatally, that is, before a baby is born, most treatment occurs in our specialized centre after the mother gives birth. A highly specialized transport team is available to transfer newborns from the hospital where they are born to the Montreal Children’s Hospital. In some cases, the timing and location of childbirth may have to be carefully planned to help improve the outcome once the child is born.
Once the diagnosis of a genetic condition is made, a genetic counsellor will meet with the patient and other family members to help them understand the diagnosis by providing accurate, current and comprehensive information about the condition and its hereditary nature, as well as a risk assessment of recurrence, and options available to reduce the risk of recurrence. Our genetic counsellors emphasize helping individuals cope with the emotional impact of learning about a genetic condition in their family by providing preliminary counselling and referring them to other support networks as needed.
Our Huntington disease program has established links with the Department of Neurology at the Centre hospitalier de l’Université de Montréal (CHUM) and the Huntington Disease Society to provide coordinated care to patients across the province.
In collaboration with Gynecologic Oncology at the MUHC, the hereditary cancer team runs a high-risk Gynecology Prevention Clinic, dedicated exclusively to the follow-up care of patients at high genetic risk of gynecological cancers (e.g. female BRCA1/2 carriers, females with HNPCC).
We are the only centre in the province of Quebec providing population screening for diseases common among the Ashkenazi Jewish population by biochemical (Tay-Sachs) and molecular methods (Tay-Sachs, Canavan and Familial Dysautonomia) and among French-Canadians for Tay-Sachs disease.
We have both a biochemical and molecular diagnostics laboratory service within our department. The Molecular Genetics Laboratory of the Montreal Children’s Hospital is the reference laboratory for the following molecular genetics tests in the province of Quebec:
- Cystic Fibrosis and CFTR-Related Disorders;
- Connexin 26/30 (GJB2/GJB6)-related hearing loss;
- Phenylalanine Hydroxylase Deficiency (Phenylketonuria, PKU);
- Prader-Willi and Angelman Syndrome methylation analysis;
- Ashkenazi Jewish Panel (screening for Tay-Sachs, Canavan and Familial Dysautonomia);
- Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD Deficiency);
- Canavan Disease;
- Tay-Sachs disease;
- Familial Dysautonomia;
- Huntington disease;
- Breast cancer;
- Vitamin B12