AN EDINBURGH University study found that womb cancer patients lack screening for a genetic condition that raises their risk of other cancers.
Despite NHS recommendations, fewer than half of those eligible underwent blood testing for Lynch syndrome, a hereditary condition that increases the risk of womb and bowel cancers.
Experts emphasise that diagnosing Lynch syndrome is crucial because it allows patients to implement measures that lower their cancer risk, which enhances outcomes and minimises NHS expenses.
Lynch syndrome impacts one in 300 individuals, yet only about 5% know they have it.
This condition results from genetic variants – tiny alterations in DNA – akin to BRCA genetic variants that elevate breast cancer risk.
People with Lynch syndrome face a 50% likelihood of developing womb cancer in their lifetime, compared to a 3% risk in the general population.
The National Institute for Health and Care Excellence (NICE) advises that every patient diagnosed with womb or bowel cancer undergo testing for Lynch syndrome markers in their tumours.
If these markers are found, they should be referred for genetic counselling to receive support and guidance, along with a straightforward blood test to confirm the diagnosis.
A University of Edinburgh-led study looked at more than 2,500 womb cancer cases across the UK and Ireland between 2022 and 2023.
Although 91% of tumours were screened for Lynch syndrome markers, the results were not regularly shared with the broader clinical team.
As a result, follow-up genetic counselling and blood tests were not scheduled.
Only two-thirds of the patients who qualified for genetic counselling received referrals for appointments.
Referred individuals encountered lengthy waiting lists, resulting in higher drop-out rates.
Just 48& of womb cancer patients who required additional testing ultimately underwent a blood test.
Undetected gaps in testing allow many womb cancer patients with Lynch syndrome to remain at risk for developing bowel cancer.
Family members are also at risk of cancer, remaining unaware of their potential condition.
Experts suggest that early detection enables preventative strategies to lower the chances of future cancers, including the use of aspirin and regular colonoscopies to avert bowel cancer, as well as hysterectomies to prevent womb cancer.
Dr Neil Ryan, clinical lecturer at the University’s Centre for Reproductive Health, said: “Despite clear guidance and excellent rates of tumour testing, too many women with Lynch syndrome are still being missed because they’re not referred for definitive blood testing in a timely way.
“This not only denies them the chance to reduce their future cancer risk but also prevents their relatives from being tested and protected.
“Tumour testing is only cost-effective if it leads to diagnosis — we urgently need to make mainstream testing truly mainstream.”
