GP patients to be offered whole-genome screening in UK-first study


A “pioneering study” to assess the benefits of screening for gene faults will see people in the UK have their entire genetic code read from samples taken at a GP practice for the first time.

Some one thousand GP patients in London will have their genomes screened to assess the feasibility of testing for faulty genes that increase the risk of cancer and heart disease.

Researchers hope to determine whether whole-genome sequencing in a healthy population can have a significant impact on people’s health by helping diagnose cancer, heart disease and other illnesses much earlier.

The study could lead to more routine use of genetic testing to predict and manage patients’ future health in the NHS if successful.

The research, called the 90S Study, is led by Professor Ros Eeles from the Institute of Cancer Research (ICR) in London and the Royal Marsden NHS Foundation Trust, and Dr Michael Sandberg, a GP at private practice 90 Sloane Street, where patient volunteers will be recruited.

The first 20 patients will be evaluated for the psychological effects of genetic screening as part of a study funded by donations to ICR and through support from the NIHR Biomedical Research Centre at the Royal Marsden and the ICR, and 90 Sloane St.

The study will then be expanded to around a thousand patients initially recruited at 90 Sloane St, with NHS GP practices lined up to join the pilot in a subsequent stage.

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 project will give us crucial information about whether genetic screening in primary care could be feasible, and how we should go about seeking to implement it within the NHS.”

Early interventions

Until now, there has been no thorough investigation of how properly controlled and validated genomic medicine could be integrated into primary care in the UK.

In the new initiative, researchers will analyse the entire genetic code of people attending a GP surgery and report on around 600 separate genetic changes known to be associated with disease, or affect how patients respond to certain medicines.

The study is looking for ‘actionable gene alterations’ which, if detected, could encourage individuals to make lifestyle improvements, undertake specific screening and in some cases be offered targeted treatments.

It will also assess how frequently genetic alterations are picked up by whole-genome sequencing in people with a family history of cancer or heart disease compared with people who do not, using an equal number of volunteers from each group.

The study will involve experts from the Institute of Cancer Research (ICR) and the Royal Marsden, in addition to cardiologists at Royal Brompton Hospital, with support from five consultant geneticists from 90 Sloane Street.

Dr Michael Sandberg, co-principal investigator for the 90S Study, 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.

“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.”

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