Clinical Genetics

Medical Genetics services are provided by a multidisciplinary team comprised of geneticists, genetic counsellors, molecular geneticists, cytogeneticists, endocrinologists, pediatricians, dieticians, and nurses. The goal is to diagnose, treat and prevent congenital and hereditary disorders.

The team provides subspecialized services in the fields of Clinical, Biochemical and Molecular Genetics for individuals of all ages, from prenatal life to adulthood, as well as risk assessment and genetic counseling.


Our department offers services in these different areas:

General Genetics

The General genetics team consists of geneticists and genetic counselors who evaluate adults and children who are at risk for, or suspected to have a genetic syndrome or a disorder with a genetic component. Depending on the type and reason for referral, the case will be triaged accordingly, and the patient will be seen sometimes within a week, and for less urgent referrals, within months.

Our general genetics clinic encompasses every aspect of medicine, from head to toe and from birth to old age. Patients receive genetic evaluations and genetic counseling, including the discussion, organization, and interpretation of genetic tests for various inherited conditions.

We work very closely with other specialties and other healthcare providers in the hospital and throughout the community to ensure our patients’ individual needs are addressed.

Most common reasons for Referral:

  • Known or suspected genetic condition such as (but not limited to) fragile X, hemophilia or cystic fibrosis
  • Birth defects (single or multiple), such as a cleft lip, cleft palate
  • Neurological concerns such as epilepsy, movement disorders, spastic paraplegia or structural brain malformations or developmental delay of unknown cause
  • Autism spectrum disorder, psychiatric conditions or other behavioral concerns
  • Cardiac concerns such as cardiomyopathy or dysrhythmias
  • Hearing loss
  • Suspected or diagnosed connective tissue disorders (Marfan, Ehlers Danlos, etc.)
  • Muscular dystrophies
  • Chromosome abnormalities (Trisomy 21, Klinefelter, etc.)
  • Consanguinity (couples related by blood)
  • Ethnicity-based screening (French Canadian from Saguenay-Lac-Saint-Jean or Charlevoix regions)
  • Couples who have a previous child or other family member with a genetic condition or birth defect and who want to learn more about their risks to have an affected child

In addition, there are a number of specialty clinics that are part of general genetics. The genodermatoses clinic provides evaluations of individuals who have changes in their skin that may be due to a genetic condition. The clinic is held once a month and is staffed by a dermatologist, geneticist, and a genetic counselor. There is also a neurofibromatosis clinic staffed by a pediatrician with expertise in neurofibromatosis.

top of page

Medical Genetic Referral / Indications Form

Connective Tissue Disorder Referral /Indications Form

Biochemical Genetics

The metabolic program at the McGill University Health Center provides a comprehensive program for the diagnosis and biochemical management of patients with inborn errors of metabolism (IEM). We see a broad range of patients covering all ages from birth to adulthood and all aspects of metabolic disease. Many are treated with diets that need to continue throughout life. Our team includes five metabolic physicians who work closely with a dedicated biochemical genetics nurse and a metabolic nutritionist. We have one outpatient clinic a week for new referrals and follow-up. In addition to our clinics, we see many of our chronic patients for routine follow-up on a weekly to biweekly basis and we have an active program for enzyme replacement therapy for lysosomal storage diseases. 

We work closely with the hospital based pediatricians, community pediatricians and family doctors to co-manage these complex patients. In particular we are very much involved in the follow-up of newborns detected via the Quebec Newborn Screening Program in both blood and urine.

Our clinicians also have many active research interests including peroxisomal disease, phenylketonuria, lysosomal storage diseases and mitochondrial disease.

top of page

Prenatal Diagnosis

The Prenatal Genetics team of genetic counsellors and medical geneticists sees patients for genetic counselling and consultation for a variety of indications in pregnancy, including a fetal malformation or soft marker identified on ultrasound, a fetal chromosome abnormality, a positive prenatal screening result, a teratogen exposure or a family history of a genetic condition. Most referrals to our service are urgent considering there is an ongoing pregnancy and we aim to see most patients within a week of referral, depending on the exact urgency. 

We work with other specialties and hospital centres to access important diagnostic tools in pregnancy, such as chorionic villus sampling, amniocentesis, detailed ultrasound, fetal echocardiogram and fetal magnetic resonance imaging (MRI). We are affiliated with the Maternal-Fetal Medicine unit at the Royal Victoria Hospital where complex pregnancies are managed and we collaborate with other specialized teams via the McGill Fetal Diagnosis and Treatment Group.

Referring physicians:
We accept referrals of patients who are currently pregnant for the following indications. 

  • Fetal malformation identified on ultrasound
  • Fetal chromosome abnormality
  • Positive screening result with risk greater than 1 in 30
  • Low maternal serum estriol (≤ 0.5 MoM)
  • Fetal ultrasound screening with :
    • Increased nuchal translucency (greater than 3 mm)
    • The following soft markers:
      • Echogenic bowel
      • Ventriculomegaly
      • Increased nuchal fold: ≥ 5mm at 16-17 weeks,  or ≥ 6mm at 18-24 weeks
      • A combination of 2 or more soft markers (including choroid plexus cysts, enlarged cisterna magna, clinodactyly, echogenic intracardiac focus, short femur length, short humerus length, pyelectasis and single umbilical artery).
  • Teratogen exposure
  • Family history of genetic condition 

Please contact the on-call genetic counsellor at 514-406-0363 if you have questions or would like to discuss referring a patient to our department.

Prenatal Genetics Referral / Indications Form


McGill Fetal Diagnosis and Treatment Group (FDTG)

The FDTG functions as a multidisciplinary team, including perinatologists, ultrasonographers, neonatologists, pediatric surgeons, pathologists, geneticists, genetic counselors, and other specialists, who accept referrals of patients at risk of having babies with congenital malformations. 

For more information: McGill Fetal Diagnosis and Treatment Group

top of page

Cancer Genetics

The Cancer Genetics Service at the McGill University Health Centre (MUHC), in close partnership with its sister service at the Jewish General Hospital, provides genetic counselling services for individuals and families at increased risk of hereditary cancers, both in the pediatric and adult setting. The Cancer Genetics Service is the oldest of its kind in Quebec, and one of the oldest in Canada, with its clinical roots stemming from the identification of the BRCA1 and BRCA2 genes, where McGill University researchers played an integral role. In 2008, it was the only cancer genetics program in the province to receive the highest designation of “supraregional team” (Level 4) from the Programme québécois de lutte contre le cancer. Our experienced team of genetic counselors and geneticists has provided care to thousands of individuals and their families who have been affected by hereditary cancer since 1995.

Genetic Counselling:
Though cancer is a disease that affects many families, the vast majority of common cancers such as breast, colon, and prostate cancer are not due to an inherited predisposition. A combination of random biological events and certain environmental exposures are thought to contribute to the development of most cancers as we get older. Only a small proportion of all human cancers, roughly 5-10%, are hereditary. Some characteristics of hereditary cancers include:

  • Cancer occurring at younger than average ages (e.g. breast cancer prior to age 40)
  • Cancer occurring in more than one generation (on the same side of a family)
  • Cancer affecting paired organs (e.g. cancer involving both kidneys)
  • Rare cancers (e.g. male breast cancer, rhabdomyosarcoma in children)
  • More than one type of cancer in the same person (e.g. breast and ovarian cancer)

Our multidisciplinary team of cancer genetics specialists provides personalized cancer risk assessments based on medical and family history, and when indicated, help individuals navigate through the process of genetic testing. Through supportive counseling and education about hereditary cancers, we help empower individuals to use genetic information to make informed decisions about cancer screening and primary prevention. We also provide recommendations to other medical specialists working in surgery, oncology, gastroenterology, and gynecology, to ensure that individuals at “high-risk” for developing cancer have access to the appropriate surveillance and follow-up.


A notable feature of the Cancer Genetics Service is the timely integration of new knowledge and technologies to better serve our patient population. This is due, in part, to our partnership with the McGill Program in Cancer Genetics. In serving our patients in the clinic, we strive to provide risk assessment and management recommendations based on the most up-to-date medical literature, and where possible, offer participation in research studies related to hereditary cancer.

top of page

Hereditary Polyposis-colorectal Cancer Referral / Indications Form

Hereditary Breast/ovarian Cancer Referral / Indications Form

Cancer Predisposition Syndrome – Surveillance Clinic Referral indications

Ashkenazi Jewish Genetic Screening Services

The Department of Medical Genetics at the McGill University Health Center (MUHC) provides genetic screening for all individuals and couples who are of Ashkenazi Jewish descent.

Any person who has at least one grandparent of Ashkenazi Jewish background can be screened in our department. The diseases that are screened at the MUHC are Tay-Sachs disease, Canavan disease, and familial dysautonomia. Although these conditions have been reported in individuals of various ethnic backgrounds, these diseases occur more frequently in people of Ashkenazi Jewish ancestry.

Patients who are interested in being screened can access this dedicated educational website:

Physicians are also welcome to give this address to their patients.


Huntington’s Disease Clinic

Our clinic provides education and support to individuals with Huntington Disease, to their families and caregivers, as well as to health professionals involved in their care.

Our services include genetic consultation to those seeking information about Huntington Disease and those wishing to discuss family planning options. We also provide predictive testing for individuals who wish to know their genetic status.

A genetic consultation may help an individual or family to:

  • understand the medical aspects of Huntington Disease, the status of our current knowledge and research options
  • understand the hereditary nature of the condition and the risk that an individual in the family will develop the disease
  • learn about the current genetic testing
  • learn about current reproductive options (so the disease is not transmitted to the next generation)
  • understand the implications of the disease to the individual and the family, develop coping strategies and learn about support resources
  • identify strategies and resources to help discuss the diagnosis with other family members, such as children, spouse and siblings

Genetic testing of individuals at risk for developing Huntington Disease but not showing any symptoms of the condition is called “predictive testing”. 

To make an informed decision about whether or not to undergo such testing, it is important that the individual understands the implications of knowing his/her genetic status and is prepared and supported to receive the results. 

We follow a specific protocol during which the individual can withdraw from the testing process at any time. Preparation for testing involves both telephone and face-to-face discussions. We can provide face-to-face consultations using video conferencing for individuals living outside Montreal.

top of page