The genome sequencing journey: what's involved

Sequencing a genome involves a multidisciplinary team of scientists, clinicians, and genetics specialists



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Genome sequencing in healthcare usually starts with a referral from a doctor, such as a GP or genetic specialist, to a genomic testing provider.

Before the test, there is usually a genetic counselling session with a genetic health professional. This is an integral part of the genome sequencing process, as it helps people to fully understand what is involved in testing, and what the potential outcomes might be. 

After a person decides to go ahead, the next step is for them to give a sample for testing, usually a blood sample or cheek swab. This sample is processed, the DNA is sequenced, and the data is analysed to look for variants that are relevant to the reason for testing – for example, variants that might be causing a genetic condition, or that might affect medication response. 


Tags: infographic, genome sequencing, clinical application, genetic counselling, genetic disease


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