RT Journal Article
SR Electronic
T1 The rise of the genome and personalised medicine
JF Clinical Medicine
JO Clin Med
FD Royal College of Physicians
SP 545
OP 551
DO 10.7861/clinmedicine.17-6-545
VO 17
IS 6
A1 Helen K Brittain
A1 Richard Scott
A1 Ellen Thomas
YR 2017
UL http://www.rcpjournals.org/content/17/6/545.abstract
AB 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.