Impact of genome sequencing

Genome sequencing is being used in medicine to diagnose inherited diseases, target cancer treatments, and identify health risks.

 

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Knowledge of the human genome is far from complete, but genomic information is already having a big impact in the clinic. The areas where genome sequencing is expected to have the most impact are: 

Diagnosing rare and inherited diseases 
Clinicians are adopting genome sequencing as a way of searching for variants that could be causing an undiagnosed genetic disease  

Stratifying individuals' tumours to guide cancer therapy
Genomic information can be used to profile the DNA and RNA of tumour cells to guide the use of targeted cancer treatments

Providing information about a person's risk of developing disease or their likely response to a treatment
Certain variants can increase a person's risk of diseases like cancer and heart conditions. Genomic information could be used to help detect diseases early or, ultimately, prevent them from developing. 

 

Tags: infographic, genome sequencing, genetic disease, diagnosis rate, clinical application

 

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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.
References: 1. www.geneticalliance.org.uk
2. http://abs.gov.au/ausstats/abs@.nsf/mf/3301.0