Genomic Testing for Childhood Syndromes and Intellectual Disability
Education for Paediatricians
Published Papers
Paediatric genomic testing: Navigating Medicare rebatable genomic testing: open access article in Journal of Paediatrics and Child Health (published February 2021)
Educational Videos
The aim of the 4 short videos is to provide a guide for paediatricians when ordering genomic testing for undiagnosed childhood syndromes, including intellectual disability. Viewed in sequence, topics are listed below. A handout is included in the Resources.
Video 1: Introduction and Overview 5:31
Video 2: Recognise when genomic testing would be suitable for a patient 5:19
Video 3: Consider genomic testing: which test, consent, ordering 14:13
Video 4. Explain a genomic test result and know when to contact Genetics Services for help. 13:16
Before the test
Ordering the test
When the results come back from the lab
Resources
Additional resources for health professionals
Genomic Testing 101. A brief introduction to genomics in clinical practice written by a clinical geneticist in NSW Health. Health professionals and students will learn about how genomics may be applied in clinical care and some of the considerations.
Lab tests online: Information about Whole genome or whole exome testing for childhood syndromes
More information about genomic testing
RACP online learning module: Clinical Genomics for Physicians