The Institute of Cancer Research says more people should be screened for genetic changes that could increase their risk of cancer

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Current NHS policy of restricting cancer gene testing could be leading to some people carrying inherited genetic changes linked to cancer being missed, a small study found.

Investigators at The Institute of Cancer Research (ICR) in London, and colleagues, said that there was ‘a strong case’ for the NHS to widen access to gene testing so that more people could undergo monitoring, screening, or preventive treatment.

Private versus NHS screening

The study, published in the journal Scientific Reports, evaluated how many additional genetic variants that could lead to intervention were found in 152 people who underwent testing in a private oncogenetics clinic in London between 2014 and 2016, and compared this with eligibility criteria employed by the NHS.

A harmful—or probably harmful—gene variant, relevant to personal or family history of cancer, was detected in 15 patients—a detection rate of 10%.

Of those patients, seven, or 46.7%, would not have met NHS eligibility criteria for testing, researchers found, representing 4.6% of the total number of people reviewed.

They concluded that the current England NHS threshold for genetic testing meant that 4.6% of people with a personal or family history of cancer could be missing out on genetic testing that would lead to changes in their clinical management.

However, the study also found that 34% of participants were found to have ‘variants of unknown significance’, where there was no clear course of management.

Widening NHS eligibility criteria could therefore increase pressures on the NHS through the need for follow-up checks, while also causing unnecessary anxiety among some patients, the study authors said, recommending that NHS eligibility criteria ‘should attempt to strike a balance between identifying high-risk patients and minimising the level of uncertainty’.

Larger studies needed

Ros Eeles, Professor of Oncogenetics at the ICR, said: ‘We feel there is a strong case to widen access to cancer gene testing on the NHS.’

She added: ‘We need larger studies to work out exactly where the revised NHS threshold for testing should be, to maximise the benefit in people at high risk of cancer, while minimising the burden on patients and the NHS of follow-up investigations.’

Professor Kristian Helin, Chief Executive of the ICR, said: ‘Over the last 20 years, we have gained a far greater understanding of the inherited genetic changes which can increase a person’s risk of developing cancer. That increasingly opens up the possibility of genetic testing to identify those people at the highest cancer risk, and to support them with strategies for cancer prevention or early detection.

‘Unfortunately, accessing genetic testing on the NHS can be complicated and tends to be restricted to those people with a strong family history. Our new research shows that we are missing people who could benefit from genetic testing. I hope the findings will ultimately help improve national testing guidelines so that we can help more people at high risk of cancer.’

NHS England said it was unclear whether the researchers had used guidelines from 2014 or 2016 when they drew their conclusions about what might have happened in the NHS.

A spokesperson for NHS England said: ‘We launched the National Genomic Test Directory in 2018 and this provides us with a clear process to review new and emerging evidence to direct any updates that may be required.’

This article originally appeared on Medscape, part of the Medscape Professional Network.


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