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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!

1.1 Section 1.1

1.1.1
About Genetics and Children's Health: Some Biology
1.1.2
Genes and How They Work
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.

2.1 Section 2.1

2.1.1
Chromosomal Conditions
2.1.2
Single Gene (Monogenic) Conditions
2.1.3
Multifactorial Disorders or Complex Traits
2.1.4
What Causes Genetic Conditions?
2.1.5
How Many Children Have Genetic Conditions?
2.1.6
What Does this Mean for Children and Families?
Section 3

Genetic Services

Whether it be about genetic testing, screening, or a diagnosis, patients and their families confront complicated issues and have many questions. This section describes the services offered to them and the professionals who offer these services.

3.1 Section 3.1

3.1.1
What Genetic Services Do Children and Families Need?
3.1.2
What Genetic Services Exist for Children and Families in Canada?
3.1.3
Who Might Be Seen by a Medical Geneticist?
3.1.4
The Number of Doctors Who Completed Specialty Training in Medical Genetics, Canada, 2008-2012
3.1.5
The Number of Post-Grad Trainees in Medical Genetics, by Year of Training, Canada, 2012/2013
3.1.6
Genetic Counsellors
3.1.7
Genetic Counselling
3.1.8
3.1.8 Access to Services - Medical Geneticists
3.1.9
3.1.9 Access to Services - Genetic Counsellors
3.1.10
Laboratories Providing Genetic Testing and Those That Are Certified Genetic Service Centres
3.1.11
Communication within Families
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

4.1.1
Introduction to Genetic Testing and Screening

4.2 Genetic Testing

4.2.1
Genetic Testing in Children
4.2.2
Diagnostic Genetic Testing in Children
4.2.3
Genetic Testing – Rare Diseases

4.3 Genetic Screening

4.3.1
Types of Genetic Screening
4.3.2
Overall Principles of Genetic Screening
4.3.3
Preconception Genetic Screening
4.3.4
Preconception Genetic Screening Among Specific Populations
4.3.5
Prenatal Genetic Screening
4.3.6
Prenatal Genetic Blood Screening Programs in Canada
4.3.7
Non-Invasive Prenatal Screening Methods
4.3.8
Newborn Genetic Screening
4.3.9
Availability of Selected Common Newborn Screening Tests, Canada, 2013
4.3.10
Newborn Genetic Screening - Specific Conditions - Phenylketonuria (PKU)
4.3.11
Newborn Genetic Screening - Specific Conditions - Access to Treatment for Phenylketonuria
4.3.12
Newborn Genetic Screening - Specific Conditions - Cystic Fibrosis
4.3.13
Number of CF Patients* Seen in Clinics and Number of New Diagnoses, Canada, 1990 to 2011
4.3.14
4.3.14 Specific Conditions – Newborn Screening for Cystic Fibrosis
4.3.15
Specific Conditions – Sickle Cell Disease
4.3.16
Specific Conditions – Some Facts about Sickle Cell Disease
4.3.17
4.3.17 Specific Conditions – Newborn Screening for Sickle Cell Disease
4.3.18
4.3.18 Specific Conditions – Newborn Hearing 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.

5.1 Introduction to Congenital Anomalies

5.1.1
What Are Congenital Anomalies?
5.1.2
5.1.2 Monitoring Congenital Anomalies
5.1.3
Causes of Congenital Anomalies
5.1.4
Prevalence of Congenital Anomalies
5.1.5
Birth Prevalence of Congenital Anomalies, by Year, Canada (excluding Quebec), 1998 to 2009

5.2 Consequences of Congenital Anomalies

5.2.1
Rate of Fetal Death ≥ 500 grams by Cause, Canada (excluding Ontario), 2000 to 2008
5.2.2
Causes of Neonatal, Postneonatal, and All Infant Death, Canada (excl. Ontario), 2003 to 2007
5.2.3
Causes of Infant Death, Canada (excluding Ontario), 1999, 2004, and 2007

5.3 Common Congenital Anomalies

5.3.1
Common Congenital Anomalies – A Brief Section Introduction
5.3.2
Common Congenital Anomalies – Down Syndrome
5.3.3
Common Congenital Anomalies – Rates of Down Syndrome in Canada, 1996 to 2007
5.3.4
Common Congenital Anomalies – Rate of Down Syndrome, Canada, 1998 to 2007
5.3.5
Common Congenital Anomalies – Neural Tube Defects
5.3.6
Common Congenital Anomalies – Rate of Neural Tube Defects, Canada, 1995 to 2007
5.3.7
Common Congenital Anomalies – Rate of Neural Tube Defects, Canada, 1998 to 2007
5.3.8
Common Congenital Anomalies – Neural Tube Defects: Primary Prevention Policies
5.3.9
Common Congenital Anomalies – Folic Acid Use Before Pregnancy, Canada, 2009/2010
5.3.10
Women Aged 20 to 49 Years Who Took Folic Acid Before their Last Pregnancy, Canada, 2009/2010
5.3.11
Women Who Took Folic Acid by Pre-Pregnancy Knowledge, Canada, 2006-2007
5.3.12
Common Congenital Anomalies – Congenital Heart Defects
5.3.13
Rate of Congenital Heart Defects, Canada (excluding Quebec), 1998 to 2009
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.

6.1 Section 6.1

6.1.1
Introduction to Teratogens
6.1.2
Alcohol
6.1.3
Fetal Alcohol Spectrum Disorder – The Facts
6.1.4
Fetal Alcohol Spectrum Disorder – Alcohol Use during Pregnancy
6.1.5
Fetal Alcohol Spectrum Disorder – Primary Prevention
6.1.6
Fetal Alcohol Spectrum Disorder – Primary Prevention
Section 7

Emerging Issues

As genetics is a burgeoning field, this section focuses on some of the emerging issues in genetics that are influencing genetics and children’s health and wellbeing.

7.1 Genetique Testing and Screening

7.1.1
Genetic Testing and Screening – The Growth in Genetic Testing
7.1.2
Genetic Screening – Nuchal Translucency Screening in Pregnancy
7.1.3
Consent and Newborn Genetic Screening
7.1.4
New Technologies and Newborn Genetic Screening
7.1.5
Newborn Screening: Important Questions
7.1.6
Genetic Testing and Screening – Whole Genome Sequencing (WGS)
7.1.7
Genetic Testing and Screening – Whole Genome Sequencing (WGS) – Questions for Clinicians

7.2 Other Emerging Issues

7.2.1
Pharmacogenetics
7.2.2
Genetic Tests Sold Directly to Consumers
Section 8

Summary

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

8.1.1
Summary
Section 9

Glossary

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

9.1.1
Glossary

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