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Genome screening at GP practices ‘feasible’, finds study

Genome screening at GP practices ‘feasible’, finds study

Screening patients for defective genes at GP practices is ‘feasible’, a UK-first study has found.

The study saw thousands of patients undergo genome screening at private London GP practice 90 Sloane Street, with the pilot due to expand to NHS practices.

It was the first UK study of its kind – looking at whether genomic medicine could be integrated into primary care – and saw researchers from The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust and the Royal Brompton Hospital testing for genomes that increase the risk of some conditions. 

A quarter of study participants had potentially ‘actionable’ genetic alterations increasing their risk of cancer, heart diseases and blood clotting diseases.

Professor of oncogenetics at The Institute of Cancer Research and study leader Professor Ros Eeles said: ‘Our study is the first to assess whether whole-genome sequencing can be delivered by GPs and demonstrates that it is feasible, provides important genetic information, and is likely to benefit patients by making preventative measures or counselling available to them.’

She said the findings show that ‘integrating whole-genome sequencing into primary care could change the way most patients and their families are managed by their GPs – either by detecting genetic variants that will affect a patient’s own health, or by highlighting their risk of passing on a genetic alteration which is important for future family planning’.

She added that the study – named 90S – has shown that genome screening in GP practice is ‘not straightforward’ and so the researchers will now look at ‘how to best implement genomic screening as part of family practice within the NHS – seeking ways to simplify and improve processes and make it suitable for large-volume NHS screening’.

90 Sloane Street GP and co-principal investigator for the 90S study Dr Michael Sandberg said: ‘We hope we could also stop many genetic conditions from being passed on to future children and grandchildren, if they have a “monogene” basis, such as BRCA gene alterations. 

‘Whole genome screening could therefore have a huge impact and enormous benefits for people – and it is important to note we are only testing for genetic changes where we can help, so called “actionable”.’

The 90S study

The study involved 102 healthy participants, recruited from The London Genetics Centre at 90 Sloane Street between 2020 and 2022, who had their entire genetic code read from samples taken at the practice.

Researchers looked for 566 separate genetic changes linked to disease, including changes to 84 genes related to cancer and 77 related to heart conditions, and other genetic changes linked to how patients respond to or break down certain medicines.

26 out of the 102 participants had potentially actionable genetic variants, 61 had a recessive gene that could be passed down to children should their partner also carry it, and 38 had genetic changes linked to specific responses to medicines.

Source: The Institute of Cancer Research


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Please note, only GPs are permitted to add comments to articles

Simon Gilbert 6 June, 2022 1:36 pm

‘We hope we could also stop many genetic conditions from being passed on to future children and grandchildren, if they have a “monogene” basis, such as BRCA gene alterations.’

There is no gene for the human spirit.

Dylan Summers 7 June, 2022 9:09 am

“Feasible” how? What are the resource implications?

Hopefully the National Screening Committee will show their usual good sense and rule on whether the benefits of such screening outweigh the harms and opportunity costs.

David jenkins 7 June, 2022 10:30 am

no problem at all doing this extra work.

just let us know what work we can stop doing to fit this in………..and, of course, what funding will be provided.

Patrufini Duffy 7 June, 2022 4:38 pm

Make it 120% because that exists