Study identifies significant gaps in testing for genetic risk of womb cancer

New Delhi, June 11: Patients with womb or uterine cancer are not being tested for a genetic condition that increases their chance of developing further cancers, according to a study. Lynch syndrome is an inherited condition that leaves individuals more susceptible to womb and bowel cancer.

While it affects one in 300 people, only five per cent are aware they have it. Researchers from the University of Edinburgh said that diagnosis of Lynch syndrome is important as it enables patients to take action to reduce their cancer risk. It not only improves outcomes but also reduces healthcare costs. The study, published in the journal BMJ Oncology, looked at more than 2,500 womb cancer cases across the UK and Ireland between 2022 and 2023. While 91 per cent of tumours were tested for markers of Lynch syndrome, test results were not routinely communicated to the wider clinical team, meaning follow-up genetic counselling and blood tests were not arranged. Two-thirds of the patients eligible for genetic counselling were referred for appointments.

Those who were referred faced long waiting lists, resulting in high drop-out rates. Only 48 per cent of womb cancer patients who should have had further testing ultimately received a blood test, the study found. Gaps in testing mean that many womb cancer patients with Lynch syndrome go undetected, leaving them at risk of developing bowel cancer. Family members are also left vulnerable to cancer risk; unaware they may have the condition. “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,” said Dr Neil Ryan, clinical lecturer at the University of Edinburgh’s Centre for Reproductive Health. “Tumour testing is only cost-effective if it leads to diagnosis — we urgently need to make mainstream testing truly mainstream,” he added. Early detection would allow the use of preventative measures to reduce the risk of future cancers, such as taking aspirin and having regular colonoscopies to prevent bowel cancer, or hysterectomies to prevent womb cancer, the researchers said.