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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

Introduction and Overview


Video 2: Recognise when genomic testing would be suitable for a patient 5:19

 Recognise when genomic testing would be suitable for a patient

Video 3:  Consider genomic testing: which test, consent, ordering 14:13

 Consider genomic testing. which test, consent, ordering

Video 4. Explain a genomic test result and know when to contact Genetics Services for help. 13:16

Explain a genomic test result and know when to contact Genetic Services for help

Handout PDF  Slides (May 2020)

Please complete our short survey after watching all 4 videos in the Education for Paediatricians series

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