Medical Genetics

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

The team provides specialized services in the field of General Genetics, Cancer Genetics, Biochemical Genetics and Prenatal Diagnosis. These services are provided within the McGill University Health Centre at several different hospital sites (Montreal Children’s, Royal Victoria and Montreal General Hospitals). We provide preconception, prenatal and postnatal evaluation, as well as risk assessment and counselling. We offer community screening for common Ashkenazi Jewish disorders, and serve as a referral centre for hereditary metabolic conditions.

We act on physician-based referrals, and provide support services to physicians, nurses and other allied health care professionals involved in clinical as well as preconception/prenatal care. Our patient population consists of patients of various ethnic origins from the McGill RUIS (Réseau universitaire intégré de santé) hospitals, but also from other regional hospitals (Montreal suburbs) and various cities throughout the province. This also includes Northern Quebec, for which we collaborate with the Northern Quebec Module and Cree Patient Services. Telemedicine services can sometimes be available for coordinated care. 

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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 field of Clinical, Biochemical and Molecular Genetics as well as Prenatal Diagnosis within the McGill System at several different hospital sites (Montreal Children’s, Royal Victoria and Montreal General Hospitals. We provide preconception, prenatal and postnatal, as well as risk assessment and counselling.

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 counselling, including the discussion, organization, and interpretation of genetic tests for various inherited conditions.

We work very closely with the other specialties in the hospital, as well as 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 to the above common indications to be seen, 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 The idea is to make this clinic available such that an early diagnosis can be made and therefore patients are able to transition more readily with each stage of their life, be it childhood, adolescence, young adulthood and so on.

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 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.

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 and 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 (FISH or karyotype)
  • 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 us to speak with the on-call genetic counsellor if you have questions or would like to discuss referring a patient to our service.

McGill Fetal Diagnosis and Treatment Group (FDTG)

The FDTG functions as a multidisciplinary team, including perinatologists, ultrasonographers, neonatologists, pediatric surgeons, pathologists, geneticists, genetic counsellors 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

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 counsellors 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 provide personalized cancer risk assessments based on medical and family history, and when indicated, help individuals navigate through the process of genetic testing. Through supportive counselling 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 gynaecology, 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.

Ashkenazi Jewish Genetic Screening Services

The Department of Medical Genetics at the McGill University Health Center (MUHC) provides genetic counselling and 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. 

We accept referrals from both physicians and patients themselves. Referring physicians or patients can use thisform to request an appointment in our Department for Ashkenazi Jewish screening.

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 videoconferencing for individuals living outside Montreal.

How to refer a patient to Genetics

Referring physicians can fax their consultation request to 514-412-4296 or send it to [email protected] 

However, patients do not need a physician’s referral to be seen in our service. To schedule an appointment in our Department, please fax to 514-412-4296 or e-mail to [email protected] the following information on the person who would like to be seen:

  • Reason for referral
  • First name, last name
  • Date of birth
  • Medicare number and expiration date
  • Address
  • Phone number(s)

Referral Forms

Hereditary Polyposis-colorectal Cancer Referral Form

Hereditary Breast/ovarian Cancer Referral Form

What to expect at a Genetics appointment

What is the Genetics clinic?

You have been asked to be seen by Genetics because you or a family member has a health condition that has required medical attention that could have an impact on other family members. The genetic doctors and genetic counsellors will try to find a reason for these problems. Finding answers, however, is not always possible.

What should I do before my appointment?

Try to gather all available health information about your extended family. We need to know about anyone with birth defects, medical problems or learning problems. Pictures of family members (at younger and older ages) are sometimes helpful, so bring them with you, if you can. It is also important for us to know about miscarriages or children that died at young ages. Knowing why these events happened is also helpful.

Where do I go for my appointment?

Clinics are held at the Montreal Children’s Hospital, the Royal Victoria Hospital and the Montreal General Hospital. When booking your appointment, the secretary will tell you exactly where to go.

What is a geneticist?

A geneticist is a doctor who specializes in diagnosing and treating families with different medical issues that can include single or multiple birth defects, sensory deficits (like hearing loss or blindness) learning disabilities and developmental delay, errors of metabolism, problems with growth (short or tall stature), and familial disorders such as cancer, high cholesterol and heart disease.

What is a genetic counsellor?

Genetic counsellors are health care professionals with specialized Master of Science graduate degrees with experience in the areas of medical genetics and counselling. Click to see the pamphlet

Genetic counsellors can help families understand a diagnosis by providing accurate, current and comprehensive information. In addition, genetic counsellors can help individuals understand the information relevant to reproductive risks and  risks to other family members. An emphasis is put on helping individuals cope with the emotional impact of genetic conditions in their families by providing preliminary counselling and referring patients to other support networks as needed.

Why is the Genetics Clinic Important?

Finding a reason for a family member's health condition is important.

  1. It may explain why the problem happened. Learning why may be reassuring.
  2. Once an answer is found, it can help families learn more about what to expect in the future. In some cases, treatment may be available.
  3. Some conditions run in families and we let families know if this condition is something that may occur again. In such cases, means of prevention may be available.
  4. Genetic counselling may also help you understand these problems and help your family adjust. Written information may be available, as well as referrals to support organizations.

What should you expect in the Genetics Clinic?

The initial appointment may last from 60-90 minutes. The genetic doctors and genetic counsellors will ask you questions about the patient’s medical history, their mother's pregnancy history and the medical history of other family members. Some questions may seem personal, but they will help us understand the patient better. 

After the doctor examines the patient, he/she will talk to you about the patient’s condition. Tests, such as blood tests, urine tests, or X-rays, may be requested. In addition, pictures may be taken of the patient and their family for documentation in the genetics chart. Additional referrals to other specialists and follow-up appointments in the Genetics clinic may be recommended.

What happens after the Genetics appointment?

A letter summarizing the evaluation, discussion and follow-up plans will be written and sent to the patient’s referring physician. A letter may also be sent to the family.

Medical Genetics Family and medical history questionaires
Laboratory and service affiliates

The Molecular GeneticsBiochemical Genetics, and Cytogenetics laboratories perform various highly specialized diagnostic tests.

Molecular Genetics Laboratory

The molecular genetics laboratory at the Montreal Children’s Hospital is committed to developing state-of-the-art DNA tests for genetic disease diagnostics. In addition to performing routine DNA tests for genetic disease, it is  involved in the application of new technology for the development of novel and improved tests for genetic disease and cancer. 

Director, Montreal Children's Hospital: Dr. Andrea Ruchon
Associate Directors, Montreal Children's Hospital: Dr. Ron Agatep, Dr. Isabelle De Bie
Director, Montreal General Hospital: Dr. David Rosenblatt

For more information about the molecular genetics laboratory, visit their dedicated website here

Biochemical Genetics (BCG) Laboratory 

Inborn errors of metabolism (IEM) constitute a large group of rare disorders requiring first to identify the patient’s disease and second to monitor its course after instituting treatment. IEM are diagnosed by detecting pathological metabolites or abnormal levels of normal metabolites in body cells or fluids, mostly plasma, urine and cerebrospinal fluid. Defective enzymes, cofactors or transport systems are often the cause of IMD. 

The mandate of the BCG laboratory includes:

  • Laboratory workup of patients suspected of IEM 
  • Monitoring the management of patients with IEM
  • Handling skin fibroblasts cultures for diagnostic purposes 

These goals are accomplished through a broad range of qualitative and quantitative screening tools. We collaborate with other BCG laboratories across Québec (Sainte-Justine University Hospital Center, Sherbrooke University Health Centre and Quebec University Health Centre) to offer a comprehensive directory of tests to the clinicians. The tests currently done at the Montreal Children’s Hospital BCG laboratory are:

  • Plasma, urine and CSF amino acid profiling (method: Ion-exchange chromatography)
  • Leukocyte and fibroblasts cystine analysis for Cystinosis (method: Ion-exchange chromatography)
  • Serum and leukocyte β-Hexosaminidase A and B activity for Tay-Sachs and Sandhoff diseases (method: Fluorometric assay)
  • Carbohydrate Deficient Transferrin for detection of Congenital Disorders of N-Glycosylation (method: Capillary Zone Electrophoresis) 

Associate Directors: Dr. Walla Al-Hertani, Dr. Daniela Buhas, Fabienne Parente

For detailed information about handling fibroblast cultures, click here

Research and Development focus:

The laboratory continues to be involved in the development and application of new methodologies for the diagnosis and monitoring of inherited metabolic disease. We are currently developing a new point of care targeted metabolic screening approach using Nuclear Magnetic Resonance Spectroscopy (NMRS).

Contact us: 514-412-4400 extension  22071

Cytogenetics Laboratory (Affiliate laboratory)

The Cytogenetics laboratory is part of the Core Molecular Diagnostics Laboratory.  It offers chromosome analysis (karyotyping) by standard cytogenetic techniques as well as metaphase and interphase fluorescence in situ hybridization for locus-targeted analyses. Services are available to healthcare providers and institutions within the McGill University Health Centre and the McGill RUIS.

Director: Dr. Alessandra Duncan

Associate Directors: Dr. Miriam Blumenkrantz, Dr. Josée Lavoie

Contact:  514-412-4432

Our team

Genetics has a long history at the Montreal Children’s Hospital (MCH) dating back to 1950 when Dr. F. Clarke Fraser started a genetics clinic, the first in Canada and one of the first in North America.  A decade later, with the arrival of Dr. Charles Scriver, a clinical and research program in inherited metabolic diseases was created. 

In 1984, the first genetic counsellors were hired to work side-by-side with geneticists and as the field of medical genetics expanded, new subspecialties were developed; prenatal/reproductive genetics, neurogenetics, cancer genetics, just to name a few.

In 2003, the medical genetics and biochemical genetics units were merged into a single service and became the Division of Medical Genetics within the Department of Pediatrics.  Until recently, both pediatric and adult patients were seen at the Montreal Children’s Hospital.

In 2007, the MUHC Department of Medical Genetics was created, and a number of services on both pediatric and adult sites were re-grouped within the department, including cancer genetics, and genetic laboratory services.  In 2008, adult patients began to be seen at the Montreal General Hospital. In 2012, patients referred for prenatal diagnosis started to be seen at the Royal Victoria Hospital. 

Department staff:



Nancy Braverman, MD, MS, FACMG

Daniela Buhas, MD, FRCPC, FCCMG

Isabelle De Bie, MD, PhD, FRCPC, FCCMG

William Foulkes, MBBS, PhD, FRCPC

Fahed Halal, MD

John Mitchell, MD, FRCPC

June Ortenberg, MD

David Rosenblatt, MD

Laura Russell, MD, FACMG

Genevieve Bernard, MD, MSc, FRCPC

Maria Daniela D’Agostino, MD, MSc, FRCPC

Yannis Trakadis, MD, MSc, FRCPC, FCCMG


Genetic counsellors :

Stella Drury, MSc, CCGC, CGC

Stephanie Fox, MSc, CCGC, CGC

Lidia Kasprzak, MSc, CGC

Laura Palma, MSc, CCGC, CGC

Guillaume Sillon, MSc, CGAC

Laura Whelton, MSc, CCGC, CGC

Marilyn Richard, MSc, CGC, CCGC

Nancy Anoja, MSc, CCGC

Karen Canales, CCGC

Laurence Baret, CCGC

Nutritionist: Marie Lefrançois Dt.P./ R.D.

Nutritionniste en maladies métaboliques / Metabolic Nutritionist

Nurse: Lina Moisan, Bsc N

Clinical Manager, Medical Genetics: Mélanie Langelier, RN, MSN

Clinical teaching and education

As a Department within a tertiary hospital associated with McGill University, our clinical team is actively involved in the training of health care professionals, primarily students in the M.Sc. Genetic Counselling program and medical residents in the McGill Residency Training Program in Medical Genetics as well as other medical students and residents in other specialties. 

The Department is accredited for service and training by the Canadian College of Medical Geneticists, and medical genetics training by the Royal College of Physicians and Surgeons in Canada and the College des Médecins du Quebec.

Master of Science in Genetic Counselling Program 

The MSc in Genetic Counselling Program provides the academic foundation and clinical training required for the contemporary practice of genetic counselling. Genetic counsellors are health professionals who provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. Genetic counsellors investigate the problem present in the family, analyze inheritance patterns and risks of recurrence and review available options with the family. Some counsellors also work in administrative and academic capacities, and many engage in research activities. The McGill program is a pioneer in the field, and offers a comprehensive 2-year training program. 

For more information, click here

McGill Residency Program in Medical Genetics 

The Department of Human Genetics offers a 5 year residency training program in Medical Genetics that meets the requirements of the Royal College of Physicians and Surgeons of Canada, the Collège des médecins du Québec, the Canadian College of Medical Geneticists (CCMG), and the American Board of Medical Genetics (ABMG). The program involves 2 years of core training including Pediatrics and Internal Medicine followed by 3 years in Medical Genetics. The three years in Medical Genetics include at least eighteen months in clinical genetics (genetic counselling, dysmorphology, teratology, inherited metabolic disease, cancer genetics, neurogenetics and prenatal diagnosis) and six months of clinical laboratory exposure (biochemical genetics, cytogenetics, molecular genetics). The final year allows for increased training in any of the above areas.  

For more information, click here

Other students and residents 

The MUHC Department of Medical Genetics supports the training of medical students and residents in other specialties, including, but not limited to: paediatrics, obstetrics, and pathology. This is an important component of our program as it allows for dissemination of information to the larger medical community.


Scientific knowledge is expanding at a rapid rate and nowhere is this clearer than in the field of Human Genetics. Questions that could not have even been asked a few years ago are being answered on a daily basis. There is a great challenge to integrate what we learn into medical practice to improve the health of the population. The Department of Human Genetics in the Faculty of Medicine was created to expand teaching and research in human genetics, as well as to promote the delivery of genetic health-care services. The faculty members of the Department have extremely broad academic interests. These range from genetic epidemiology to genomics, gene regulation, developmental biology, the genetics of specific diseases, gene therapy as well as the legal, ethical and policy issues related to Human Genetics. 

The genetics community in Montreal is greatly enriched by a multitude of genetically oriented research programs within the classical disciplines of biomedical science not only at McGill, but also at the three other universities in the city. The Department has a central administrative core surrounded by clinical genetics units and research laboratories in diverse locations of the main university campus, and in the research institutes of the several teaching hospitals. The Department is accredited for service and training, by the Canadian College of Medical Geneticists, and medical genetics training by the Royal College of Physicians and Surgeons in Canada and the College des Médecins du Quebec. The Department helps coordinate Genetic Health-Care Services through the McGill RUIS, and participates fully in the teaching of  both Human and Medical Genetics to baccalaureate, medical and postgraduate students. The department offers a M.Sc. in Genetic Counselling Training Program, and M.Sc. and Ph.D. Programs in Human Genetics. It has a strong student society (HGSS) that works hard to maintain a strong feeling of collegiality among our students. 

For more information about the Department of Human Genetics, click here

Links to websites dedicated to specific research groups:

McGill Program in Cancer Genetics:

Complex Traits group :

Goodman Cancer group:

The McGill Innovation Centre:

Contact Us

For general information, we can be reached at:

Montreal Children’s Hospital - MUHC
Department of Medical Genetics - CUSM
1001 Boulevard Décarie, Room A04.3140.2
Montréal, Québec Canada
H4A 3J1

Questions about an already scheduled appointment:

Room: A04.3140.2

Tel: 514-412-4427

Refer a patient 

Referring physicians can fax their consultation request to 514-412-4296 or send it to [email protected]