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Genomic screening to take place in GP practice for first time in new study

A new study will see thousands of patients screened for defective genes at a private GP practice in London, with plans to expand the pilot to NHS practices.

In the first UK study of its kind – in which genomic medicine will be integrated into primary care – researchers from The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust and the Royal Brompton Hospital will test for genomes that increase the risk of conditions such as cancer and heart disease. 

The research, which will initially take place at private GP practice 90 Sloane Street, will be rolled out to NHS surgeries at a ‘subsequent stage’, the researchers said.

In August, the Department of Health and Social Care announced that five million NHS patients will have their genomes sequenced in the next five years to predict their likelihood of developing conditions such as cancer, heart disease and dementia

At the time, GPs warned the programme could lead to increased numbers of consultations and greater costs. 

Health secretary Matt Hancock also announced last month that DNA tests for newborns will be made available on the NHS as part of a new pilot. 

In this latest study, one of the researchers, GP Dr Michael Sandberg from 90 Sloane Street, said there is ‘no doubt that primary care is the future setting for whole-genome screening, which will be carried out by specially trained practice nurses supported by GPs and consultant geneticists’.

The study leader, Professor Ros Eeles, from The Institute of Cancer Research, said the project will provide key information about how feasible genetic testing is in general practice and ‘how we should go about seeking to implement it within the NHS’.

The team said it will only look for ‘actionable gene alterations’ to determine whether whole-genome sequencing can be used to screen for genes known to be associated with disease and how patients respond to or metabolise medicines. 

Patients taking part in the study will receive an on-site heart ultrasound as part of a full medical review.

Dr Sandberg said: ‘Genetic information will help us to target and identify high-risk patients, so as to find diseases at an earlier stage and give greater precision to screening and health optimisation in general practice.

‘Working in partnership with experts at The Institute of Cancer Research and The Royal Marsden means we can integrate whole-genome sequencing into screening in primary care with the genetic support that is essential.’

Professor Eeles said: ‘We’ve seen incredible progress over the last quarter of a century in identifying genetic alterations that are linked to the risk of disease, opening up the possibility to intervene early to improve patients’ health.

‘Our new initiative takes cutting-edge science on the genetics of disease into a primary care setting, by sequencing patients’ entire genomes from samples taken at a GP surgery and testing for the presence of 600 key genetic alterations.

‘What we hope is that genetic screening is practical as a way of picking up genes associated with cancer and heart disease, is psychologically acceptable to patients, and can alter the way they are managed by their GP.

The DHSC announced this summer its intentions to make screening in the NHS ‘more personalised and stratified by risk’ as part of its green paper on preventing ill health