Module 2

Genetics and Paediatric Health

This module begins with a Genetics Primer that explains genetic concepts such as the genome, inheritance, genes, and DNA. The module goes on to provide a brief examination of the incidence and prevalence of gene-related conditions in Canada. It then describes how genetic services are organized in Canada and the resulting implications for children and families.

Genetic testing and screening are considered in detail to provide the reader with both an understanding of these concepts and an appreciation of the genetic testing and screening programs and technology that are available in Canada.

The module continues with a description of prevalence and trends of congenital anomalies and an investigation of some of the congenital anomalies that are most common among children.

Genetics is a burgeoning field, so the module concludes with a discussion of some of the emerging issues in genetics that are influencing genetics and children’s health and wellbeing.

Suggested Reference and Contributors

Suggested reference:
Rockman-Greenberg, C, Avard, D.,  Hanvey, L., Marcotte, M., & Fitzpatrick, J. (2014). Genetics and Paediatric Health. In The Health of Canada’s Children and Youth: A CICH Profile.

For our list of contributors, click here.

Section 1

A Genetics Primer

Genetics and children’s health are complex. This short primer provides some basic information that will be helpful when exploring the module. There are links to additional information for those who want more!

Section 2

Genetic Conditions

A genetic condition is caused by one or more abnormalities in the genome. This section includes descriptions of the three main types of genetic conditions: chromosomal conditions, single gene (monogenic) conditions and complex conditions.

Section 4

Genetic Testing and Screening

Genetic testing and screening are two different things, each playing an important role in the detection of genetic conditions. This section describes where, when, and how the genetic testing and screening are performed and includes data on diagnoses in Canada.

4.1 Introduction to Genetic Testing and Screening

Section 5

Congenital Anomalies

This section contains on overview of congenital anomalies and describes in more detail three of the most common congenital anomalies: Down syndrome, neural tube defects, and congenital heart defects.

Section 6

Alcohol – A Teratogen

The human epigenome responds to the environment in a very dynamic fashion. For example, toxic exposure, stress, diet, and other factors influence chemical “switches” that control gene expression. Teratogens are one of these factors, and alcohol is a common teratogen. Alcohol as a teratogen will be the focus of this section.

Section 8


This section reviews important facts about genetics and paediatric health in Canada and points to steps that must be taken to ensure that children are given the best start possible.

8.1 Section 8.1

Section 9


There are several medical and technical terms used throughout this module that might be new to many people. To help with readers’ comprehension of the module, this glossary includes definitions of many of these terms.

9.1 Glossary