Genomic testing

Watch how sequencing, bioinformatics and analysis come together in the genomic testing process.


Genomic testing is a technique that usually involves sequencing an individual's genome to generate information about their genetic make-up. This information can be used for a variety of research purposes, but genomic data is also becoming increasingly important in healthcare. 

The Garvan Institute of Medical Research runs a high-throughput genomic sequencing laboratory that generates data for both research and clinical use.

The genomic testing process involves multiple steps of laboratory and computer processes to read, interpret and analyse a person’s DNA. A team of scientists, clinicians and bioinformaticians all contribute their expertise to the end result. In this video, find out how sequencing, bioinformatics and analysis come together in the genomic testing process: 



Information from genomic testing is already being used to diagnose rare inherited diseases, guide cancer therapy, and provide information about a person’s risk of developing disease or their likely response to medications.

A human genome contains around 5 million variants to process and analyse. Most of these variants do not cause disease. To make sense of this data, scientists and clinicians need to be able to critically assess scientific evidence and make decisions as to whether or not a particular variant is likely to be disease-causing. 

How do clinicians and scientists make sense of genomic data?

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A person's genetic information generally doesn't change over time, so the genomic record that sequencing provides can be accessed by a person at any stage of their life, or shared with family members or children. 

As genomic information is extremely personal and unique to the individual, people are often interested in having their own personal copy of their genome. There are ongoing discussions about how genomic data is accessed, as well as who should have access. These discussions will become increasingly important in the future as genomic testing becomes more widespread.

Should people be able to access their genomic data after sequencing?

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For information on support for patients and families after genomic testing, visit out Genetic Counselling page. 


Tags: video, genomic testing, genome sequencing, genetic disease, bioinformatics, variant filtering, clinical application


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Kinghorn Centre for Clinical Genomics, December 2018.
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.