Online Orders
Genomic Testing for Childhood Syndromes and Intellectual Disability
Education for Paediatricians
Published Papers
Paediatric genomic testing: Navigating genomic reports for the general paediatrician: open access article in Journal of Paediatrics and Child Health (published August 2021)
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.
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
Chromosome Microarray Testing Guide
More information about genomic testing from Australian Genomics
Additional resources for paediatricians
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 from Melbourne Genomics
RACP online learning module: Clinical Genomics for Physicians
eTherapeutic Guidelines: Genetic testing for developmental disability
