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NHS gene testing fails half of people at cancer risk

A new study has revealed that NHS guidelines for gene testing miss half of people carrying inherited genetic changes linked to cancer.

The Institute of Cancer Research (ICR) found that applying NHS guidelines for gene testing would have excluded many who had genetic alterations that could raise their risk of cancer.

The experts believe NHS guidelines on genetic testing should be less stringent. The study assessed patients who received testing in the private sector to see who would have been eligible for a test under the NHS and examined what the consequences would have been, if they had missed testing.

Many with an increased risk of cancer were excluded from the potential for monitoring, screening and preventative treatment. Eligibility guidelines for genetic testing are based on a combination of factors, including family history.

“Our study shows that restricting cancer gene testing to people who meet the NHS eligibility criteria misses as many as half of people at increased risk,” Professor Ros Eeles, Professor of Oncogenetics at the ICR, London, explained. “We provide evidence that providing wider access to gene testing on the NHS would pick up significant numbers of people with high-risk cancer mutations, who could benefit from screening, monitoring or preventive treatment.”

The study detected harmful or potentially harmful gene alterations linked to personal or family history of cancer in 15 out of 152 people referred for multi-gene cancer panels in the private sector, between 2014 and 2016. Seven out of 15 of those found to carry a harmful or potentially harmful variant would not have been eligible under NHS guidelines.

“We feel there is a strong case to widen access to cancer gene testing on the NHS,” said Professor Eeles. “There is however also a trade-off to doing so, through an increased chance of ambiguous findings which need follow-up and can worry patients unnecessarily.

“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,” she added.