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.

The Clinical Genetics Program offers services for genetic assessment, providing genetic and metabolic testing, family counselling, and information regarding management and long-term outcomes for patients diagnosed with Genetic conditions.

We believe that we can make a difference in the health outcomes of our patients as advances in understanding the genetic mechanisms allow us to provide options of early intervention to minimize disease severity, new treatments, or prevent recurrent genetic condition in the family.

Referrals

A physician referral is required for the first visit with a geneticist or genetic counsellor.

Patients meeting any of the following criteria should be considered for referral to a genetic specialist:

1. Family History

• One or more members with intellectual disability, developmental delay, an inherited disorder, or a birth defect
• One or more members with early deaths due to known or unknown medical conditions
• One or more members with adult-onset health conditions such as cardiomyopathy or early onset dementia
• Couples who would like testing or more information about genetic conditions that occur with higher frequency in their ethnic group
• Couples with a family history of Genetic disorder with a known familial mutation
• Couples with a family history of multiple members affected with the similar health condition

2. Congenital Anomalies, Delayed Growth and Development

• Your patient has developmental issues or delays that may be due to an inherited disorder or birth defect
• Your patient has short stature that cannot be explained by endocrinology issues
• Your patient was born with congenital anomalies or/and major organ defects (heart, kidney, lungs, etc)

3. Reproductive issues

• Women who have experienced multiple pregnancy losses or babies who died in infancy
• Couples who are first cousins or other close blood relatives

Modified from: Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. CHAPTER 6, INDICATIONS FOR A GENETIC REFERRAL. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115554/

Please note that our clinic may not be the most appropriate resource for all referrals. Alternative services are available for your patients:

• For referrals related to prenatal diagnosis (including positive prenatal screening, abnormal ultrasound findings, or a previous pregnancy with a birth defect, chromosome abnormality, or genetic condition), please direct your referral to the Prenatal Diagnosis Clinic (Tel #: 905-521-2100 X73135, Fax #: 905-521-4955). Their referral form is available at http://www.hamiltonhealthsciences.ca/workfiles/PND/2014_PND_Referral_Form.pdf
• For referrals related to hereditary cancer syndromes, please direct your referral to the Cancer Genetics Clinic at the Juravinski Cancer Centre (Tel #: 905-521-2100 X64636, Fax # 905-575-6316).
• For referrals related to neuromuscular and mitochondrial disorders, please direct your referral to the Neuromuscular Clinic (Tel #: 905-521-2100 X77933 Fax #:905-521-2638).
• For referrals related to recurrent miscarriage/infertility, please order a karyotype for both members of the couple and consider a referral to a fertility clinic.
• For referrals related to adults with isolated hypermobility/ query Ehlers Danlos Syndrome Hypermobility Type, please consider referring your patient to the Ehlers Danlos Syndrome Program at Toronto General Hospital (Tel #: 416-340-4800 ext 6536, Fax # 416-340-3792).

If your patient has additional features of Ehlers Danlos Syndrome, please indicate this in your referral letter and provide supporting documentation. Pertinent features include:

• Aneurysm, arteriovenous fistulae, or dissection
• Intestinal rupture
• Uterine rupture during pregnancy
• Thin, translucent skin
• Friable, hyperextensible skin, thin scars
• History of neonatal hypotonia
• Progressive scoliosis, present at birth or within the first year of life
• Scleral fragility and rupture of the globe
• Family history of vascular type EDS
• Family history of sudden death
• Known familial mutation

In order to optimize our service for some indications, we will ask for additional information and/or an alternative service may be suggested:

• For referrals related to a chromosomal microarray abnormality, we ask that you arrange the follow-up blood work on both of the patient’s biological parents (The follow-up recommendations are included in your patient’s cytogenetic report with details about the requested samples). These parental results are important for the interpretation of your patient’s results.
• For referrals related to a family history of a genetic condition, please include clinical details about the affected family member, indicate whether family members have been previously assessed by our clinic. Please provide a copy of their genetic testing result for the family member if it is available.
• For referrals related to Marfan syndrome, we ask you to arrange 1) an echocardiogram with measurement of the aortic root/ascending aorta diameter, and 2) an ophthalmology or optometry assessment to look for lens subluxation/dislocation.
• For referrals related to a Skeletal Dysplasia, we ask you to arrange a skeletal survey and enclose a copy of the report.
• For referrals related to Alzheimer’s disease/ family history of Alzheimer’s disease, please include a copy of a brain MRI (if available), as well as details about the age of onset of dementia for your patient and their affected relatives.
• For referrals related to diagnostic work-up for Hemochromatosis/iron overload please refer to a hematologist. We would be happy to see individuals if there is a known family history and/or to discuss genetic testing results.
• For referrals related to Thrombophilia, please refer to a hematologist.
• For referrals related to diagnostic work-up for Hemophilia, please refer to a hematologist. We would be happy to see individuals if there is a known family history but please include details about the affected family member and provide a copy of their genetic testing result if it is available.

The Clinical Genetics Program Team

Physicians/ Geneticists

Jennifer MacKenzie, MD, FRCPC
Interim Division Head
Pediatrician and Geneticist
Professor, Department of Pediatrics

Mariya Kozenko, MD, FRCPC, FCCMG
Medical Geneticist
Assistant Professor, Department of Pediatrics

Chumei Li, MD, PhD, FRCPC, FCCMG
Medical Geneticist
Associate Professor, Department of Pediatrics

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

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

Laboratory Scientists

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

Elizabeth McCready, PhD, MSc, FCCMG
Head of Molecular Cytogenetics
Program Director , CCMG Training Program
Associate Professor, Pathology & Molecular Medicine

Suzanne Demczuk, PhD, FFCMG
Lab Director, Cancer Cytogenomics
Assistant Professor, Pathology & Molecular Medicine

Daria Grafodatskaya, PhD
Lab Director, Molecular Oncology
Assistant Professor, Pathology & Molecular Medicine

Genetic Counsellors

Christina (Paradiso) Parkinson, MSc,
Genetic Counsellor

Lee-Anne Schultz, MS, CGC
Genetic Counsellor

Lauren Brick, MSc, CGC
Genetic Counsellor

Gina Cowing, MS, CGC, CCGC
Genetic Counsellor

Madeline Vandersluis, MSc, MS, CGC
Genetic Counsellor

Chelsea Roadhouse, MSc, CGC, CCGC
Genetic Counsellor

Dietitians

Amy Pender, MSc, RD
Registered Dietician

Susan Merko, RD
Registered Dietician

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.