Medical Genetics

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

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Who we are

The Department of Medical Genetics offers services at the Montreal Children's Hospital as well as at the adult sites of the McGill University Hospital Centre. It is comprised of a number of highly specialized healthcare professionals whose goal is to diagnose, treat and prevent congenital and hereditary disorders. These disorders include chromosome abnormalities; single-gene disorders, including metabolic disorders (when the body’s metabolism is disrupted); and other congenital malformations (those that are present at birth).

We provide patients with genetic assessments, which may include a physical exam, various tests and when indicated, genetic testing. For congenital malformations identified prenatally, that is, before a baby is born, most treatment occurs in our specialized centre after the mother gives birth.

Once we have made a diagnosis of a genetic condition, one of our genetic counsellors meets with the patient and family members to help them understand the diagnosis.


Our history

Genetics has a long history at the Montreal Children’s Hospital, 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 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.

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, such as prenatal/reproductive genetics, neurogenetics, and cancer genetics. 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 at both the 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.


Our team

Our professional team includes physician specialists (geneticists, endocrinologists, and pediatricans), genetic counsellors, a nurse, a dietician, laboratory scientists, and research scientists. Several of our geneticists and some of our genetic counsellors have over 20 years of clinical experience. Some of our physicians have specific expertise in hereditary cancer or inborn errors of metabolism. There are few professionals with expertise in rare inherited metabolic diseases, therefore the model being developed at the MUHC is that the same team will follow a patient throughout their life.

Clinical Manager:

Lola Cartier, MSc, CCGC, CGC

Clinical Staff Physicians:

Genetic Counsellors:

  • Lola Cartier, MSc, CCGC, CGC, Clinical Manager
  • Stella Drury, MSc
  • Stephanie Fox, MS
  • Laura Whelton


  • Marie Lefrançois, PDt


  • Rosalie Matys, NC

Diagnostic Laboratories:

  • Dr. Andrea Ruchon, Director, Molecular Genetics
  • Dr. Ron Agatep, Associate Director, Molecular Genetics
  • Dr. Isabelle De Bie, Associate Director, Molecular Genetics
  • Dr. Serge Melançon, Director, Biochemical Genetics
  • Dr. Walla Al-Hertani, Associate Director, Biochemical Genetics
  • Dr. Daniela Buhas, Associate Director, Biochemical Genetics
  • Fabienne Parente, Associate Director, Biochemical Genetics

Affiliated Diagnostic Laboratory:

  • Dr. Alessandra Duncan, Director, Cytogenetics
  • Dr. Miriam Blumenkrantz, Associate Director, Cytogenetics
  • Dr. Josée Lavoie, Associate Director, Cytogenetics

Quebec Alimentary Program for the Treatment of Hereditary Metabolic Disorders:

514-412-4400, ext. 23526 / 514-412-4283 (fax)

Siphala Yak, Administrative Officer


Where the care happens

The Department of Medical Genetics sees patients throughout their life-span from prenatal life to adulthood. Unlike most other areas of sub-specialized medicine, those same experts diagnosing and treating the pediatric population are also treating the adult population. At present, this means that the same geneticist will be consulted at the pediatric site and at the adult site, and will run out-patient clinics at each site. The new facilities on one site at the new MUHC will greatly facilitate the organization of genetics services.

In general genetics we have both a pediatric clinic at the Montreal Children’s Hospital, and an adult clinic at the Montreal General Hospital. The hereditary cancer team runs an outpatient clinic at the Montreal General Hospital. The metabolic team is responsible for the evaluation of patients with suspected inherited metabolic diseases and follow-up of known cases at both the Montreal Children's Hospital and the Montreal General Hospital. 

The prenatal genetics team run a clinic at the Royal Victoria Hospital. There is a multidisciplinary team, known as the Fetal Diagnosis and Treatment Group, made up of maternal fetal medicine specialists and a large number of pediatric medical and surgical specialists.

We also have interdisciplinary subspecialty clinics, including pediatric cancer genetics, genodermatosis, and neurofibromatosis.


Our services

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
How to contact us

Telephone: 514-412-4427

Fax: 514-412-4329

Contact info 

Room: A 04.3140, Glen site

Tel: 514-412-4427

Fax: 514-412-4296