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Review
. 2017 Dec;17(6):545-551.
doi: 10.7861/clinmedicine.17-6-545.

The rise of the genome and personalised medicine

Helen K Brittain  1 , Richard Scott  2 , Ellen Thomas  3
Affiliations
Review

The rise of the genome and personalised medicine

Helen K Brittain et al. Clin Med (Lond). 2017 Dec.

Abstract

Virtually all medical specialties are impacted by genetic disease. Enhanced understanding of the role of genetics in human disease, coupled with rapid advancement in sequencing technology, is transforming the speed of diagnosis for patients and providing increasing opportunities to tailor management. As set out in the Annual report of the Chief Medical Officer 2016: Generation Genome1 and the recent NHS England board paper Creating a genomic medicine service to lay the foundations to deliver personalised interventions and treatments,2 the increasing 'mainstreaming' of genetic testing into routine practice and plans to embed whole genome sequencing in the NHS mean that the profile and importance of genomics is on the rise for many clinicians. This article provides a brief overview of genomics and its current clinical applications, including its contribution to personalised medicine. Physicians will be signposted to key issues that will allow the successful implementation of genomics for rare disease diagnosis and cancer management.

Keywords: Ethics; genomics; personalised medicine; variant classification and whole genome sequencing.

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Figures

Fig 1.
Fig 1.
An overview of whole genome sequencing (WGS), whole exome sequencing (WES) and static gene panel techniques. Adapted from graphics provided by Genomics England.
See this image and copyright information in PMC

References

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    1. NHS England Creating a genomic medicine service to lay the ­foundations to deliver personalised interventions and treatments. Leeds:: NHS England; 2017.
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    1. Lander ES. Linton LM. Birren B, et al. Initial sequencing and ­analysis of the human genome. Nature. 2001;409:860–921. - PubMed
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