Pilot study to assess potential of whole-genome screening in primary careIvy Madziva
Pilot study to assess potential of whole-genome screening in primary care.
In a UK first, a pilot study is to assess feasibility and psychological acceptability of genetic screening in a primary care setting, including how it changes clinician’s management decisions.
Those behind the initiative suggest that in future whole-genome screening could be carried out by specially trained practice nurses supported by GPs and consultant geneticists.
“Primary care is the future setting for whole-genome screening which will be carried out by specially trained practice nurses”
For the pilot, patients at one GP practice will have their entire genetic code read from samples in order to assess the benefits of screening for gene faults that increase the risk of disease.
Researchers aim to screen the genomes of around a thousand people in London to both assess the feasibility of testing for faulty genes and also how acceptable screening is to patients.
Specifically, it will aim to establish whether whole-genome sequencing in a healthy population can have a significant impact by helping diagnose cancer, heart disease and other illnesses much earlier.
It will 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.
Evidence gathered will inform decision making around the use of whole-genome sequencing in a primary care setting – in both the NHS and private practice.
If successful, it could also be a key step towards much more routine use of genetic testing to predict and manage patients’ future health in the NHS, said those behind the initiative, which starts today.
The 90S Study is being led by Professor Ros Eeles, from the Institute of Cancer Research and the Royal Marsden NHS Foundation Trust, and GP Dr Michael Sandberg, of the 90 Sloane Street private practice.
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.
“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,” he said.
The researchers will report on around 600 separate genetic changes known to be associated with disease, or in some cases affect how patients respond to or metabolise certain medicines.
“Our new initiative takes cutting-edge science on the genetics of disease into a primary care setting”
They will look only for “actionable gene alterations”, which, if detected, would alter choices for an individual such as lifestyle improvements, specific screening and sometimes targeted treatments.
The study will not report on risk of diseases for which there are no current actions that can be taken, noted the researchers.
Participants will receive genetic screening as part of a detailed medical review. All patients will also have an on-site echocardiogram to provide extra information and to reassure those with some genetic risk of heart disease but no signs that this is actually affecting their health.
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.
“Our new initiative takes cutting-edge science on the genetics of disease into a primary care setting,” he said.
“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.”
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