Clinical Genetics Program

Clinical Genetics Program, McMaster Children's Hospital

The mission of the Clinical Genetics Program is to provide expert services, quality education and innovative research in pediatric and adult clinical genetics, prenatal genetics and cancer genetics. Our team provides management and/or genetic counselling to families affected with, or at risk for the development of, inherited diseases.

Who does it serve?

The Clinical Genetics Program serves the Central South and Central West health care regions of Ontario. Patients served include:

• Patients with a known or suspected genetic disorder, developmental delay or mental handicap
• Individuals with a family history of a known genetic disorder, chromosome abnormality or mental handicap
• Pregnant patients whose fetus is at increased risk for a genetic, inherited and/or metabolic disorder or congenital anomaly (e.g. previous affected child or family member) **
• 3 or more unexplained pregnancy losses
• Consanguinity
• Individuals who have a child or a relative with mental handicap, multiple congenital anomalies or an isolated birth defect
• Individuals whose family history is suggestive of a hereditary cancer syndrome

**Please note:

Patients of a late maternal age (35 or older at delivery), abnormal maternal serum screening results, or ultrasound abnormalities in a current pregnancies are referrals for the Obstetrics/Gynecology Clinic (4B), at (905)521-2100, extension 75082.

Referrals

A physician referral is required for the first visit with a geneticist or genetic counsellor, but no one with a valid indication for being seen in our clinic will be denied an appointment.

The Clinical Genetics Program Team

Physicians/ Geneticists

Chumei Li, MD, PhD, FRCPC, FCCMG
Director, Clinical Genetics Program;
Associate Professor, Department of Pediatrics

Malgorzata J.M. Nowaczyk, MD, FRCPC, FCCMG
Pediatrician and Geneticist
Associate Professor, Pathology & Molecular Medicine and Pediatrics

Murray Potter, MD, FRCPC, FCCMG
Head, Biochemical Genetics
Assistant Professor, Pathology & Molecular Medicine

Linda Kim, MD, FRCPC
Clinical Geneticist
Assistant Professor, Department of Pediatrics

Laboratory Scientists

Ron Carter, PhD, FCCMG, FACMG
Discipline Director for Laboratory Genetic Services and Head of Cancer Genetics, HRLMP
Professor, Department of Pathology & Molecular Medicine, McMaster University

Murray Potter, MD, FRCPC, FCCMG
Head, Biochemical Genetics
Assistant Professor, Pathology & Molecular Medicine

John S. Waye, PhD
Head, Molecular Diagnostic Genetics Service
Professor, Pathology & Molecular Medicine

Jia-Chi (Jack) Wang MD, MSc, PhD, FCCMG
Head, Cytogenetics Services
Associate Professor, Pathology & Molecular Medicine

Genetic Counsellors

Kathleen Bell, MSc, CGC
Genetic Counsellor

Tim Heshka, MSc, MSc
Genetic Counsellor
Assistant Clinical Professor - Pediatrics, School of Rehabilitation Science

Christina (Paradiso) Parkinson, MSc,
Genetic Counsellor

Lee-Anne Schultz, MS, CGC
Genetic Counsellor

Susan Zeesman, MSc, CCGC
Genetic Counsellor
Assistant Clinical Professor, Pediatrics

Marta Szybowska, MSc
Genetic Counsellor

Your visit to Genetic Services

If you are being seen by a geneticist in order to establish a diagnosis, the genetic consultation will usually consist of:

• Taking a family, medical and developmental history
• Physical examination
• Explanation of diagnosis or possible diagnosis
• Discussion and coordination of recommended tests
• Discussion of plans for result disclosure, follow-up and/or recommendations to referring provider

If you are being seen by a genetic counsellor because of a confirmed diagnosis or a family history concern, the appointment will usually consist of:

• Taking a family history and a limited medical and prenatal history
• Explanation of inheritance pattern and likelihood of recurrence in the family
• Discussion of options for genetic testing and/or prenatal testing
• Discussion of plans for result disclosure, follow-up and/or recommendations to referring provider

Frequently Asked Questions

Q. Do I have to bring anything to my appointment?

A. You should come with as much information as possible about your family and medical history.

Q. How long will the consultation take?

A. New patient visits usually last 45-90 minutes. Follow-up visits are often shorter. These times are for the consultation itself and do not include any additional testing that might be required (e.g. blood samples).

Q. Will there be any blood testing done?

A. Whether blood tests are ordered depends on the situation. If you wish to know the likelihood that a blood test will be ordered in your case, you may call our main number to inquire.

Q. Do I have to fast for my blood test?

A. No. You can eat and drink normally before your visit, unless specifically told otherwise.

Q. What is a clinical geneticist and what is genetic counselling?

A. A clinical geneticist is a physician (medical doctor) who is specifically trained in the diagnosis and management of genetic disorders. Genetic counselling is an education process that seeks to help affected and/or at-risk individuals understand the nature of the genetic disorder, its transmission and the options open to them in management and family planning.