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The waiting game

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

Readers' comments (10)

  • Has anyone got a spare copy of "Genetic screening for Dummies"?

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  • So what's this really about. A DNA database of every UK subject and risk assessment for genetic diseases, what could possibly go wrong? At least it'll make life on Tinder easier for the select few - boy seeks girl; has 6 figure salary, GSOH, Top 5% DNA...

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  • Can’t see a GP, can’t get basic medications, can’t be seen by mental health expert unless you have attempted suicide, can’t be seen inA&E within 4 hours but thats ok because there is money to spend shed loads on a risk assessment for something that may or may not happen in the future.
    Yes I agree; the data will be misused. There is something seriously rotten at the top.

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  • Dangerous

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  • Big brother is not content with persuading everyone to carry a GPS chip and record fingerprint and facial recognition on themselves, they now want a DNA database. Scary stuff.

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  • you do realise if you tell some one they are high risk of disease x at a young age they are likely to take more risks and enjoy life and incur an earlier death accordingly - its called human nature. also if you test one family member and they have a serious genetic condition and they refuse to let you tell other family members about it who is responsible for the information. also if i never want to be tested and don't want to know but my relative is - how can you guarentee this won't affect any future insurance claims or policies i may take. these companies talk to each other you know. you need to put the legislation in first before you do the testing en masse.

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  • Edoardo Cervoni

    There are legitimate fears of "discrimination" by insurance companies, employers and society following genetic testing. The balance between pros and cons is particularly delicate when there are no cures, or effective treatments, and / or when the penetrance is incomplete. It is also necessary to establish whether relatives of someone with a positive predictive genetic test should be informed of the results and risks. I am not sure that at the moment public and GPs are sufficiently informed about the above problems.

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  • Get the basics of the NHS right first before feeding the inverse care law like this. Creating ethical minefield.

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  • Surely neonatal screening raises massive ethical questions?

    I was always taught that the only screening of children that was ethically acceptable was for diseases that need treating in childhood - for other diseases, screening must wait until they are old enough to consent.

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  • The governing class own the plebs to do with what they please!

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