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Genetics and Genomics

The terms genetics and genomics are often used interchangeably, however, they are different. Genetic tests usually look at just a single gene while we define genomic testing as tests that sequence the genome or the exome (the part of the DNA that codes for proteins). Our ability to look at the entire genome comes via next generation sequencing (NGS) technology. This technology is changing the conventionally slow, ‘serial’ test process of diagnosing Mendelian disorders.

THE GENETIC LINK online repository houses a wide selection of resources for people impacted by genetic conditions and those who support them – support groups, carers, health professionals and the general community.

The Australian Genomics Health Alliance has launched GENOMIC RESOURCES – sharing a whole range of easy-to-understand resources for you.

This video summarises Genomic (DNA) Testing. It does not replace discussing testing with your doctor or genetic counsellor, but can provide you with more information. This video also describes consent forms, which you will be asked to sign if you decide to have genomic testing for you or your child.

Melbourne Genomics – What is Genomic Testing video

This video summarises Exome Sequencing, a technique for investigating only the protein-coding regions of the genome.

Ambry Genetics – What is Exome Sequencing?

Genetic and Genomic Testing Pipeline for professional learning resources in genomics.

New genomics learning hub

Learn genomics is a new resource designed to help health professionals better understand the genomic testing process.

This website provides an overview of clinical genomics and its background biology, resources to use in clinic with patients and a guide to the genetic and genomic test process, from identifying patients and selecting tests, through to reporting results, post-test counselling and further testing.

It was devised by the Melbourne Genomics Education team.

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