This breakdown in communication meant that referrals for genetic counselling and confirmatory blood testing were not consistently made, leaving patients in diagnostic limbo
A new study has raised serious concerns over gaps in genetic testing for women with womb (uterine) cancer, revealing that many patients are missing crucial diagnoses for Lynch syndrome — an inherited condition that dramatically increases the risk of developing further cancers.
Lynch syndrome is a genetic disorder that affects around 1 in 300 people, significantly raising their lifetime risk of womb and bowel cancer. Despite this, only five per cent of those with the condition are currently aware they have it, according to researchers from the University of Edinburgh.
Their findings, published in the journal BMJ Oncology, point to a system failure in translating tumour testing into definitive diagnoses. While the majority of womb cancer tumours are tested for markers of Lynch syndrome, breakdowns in follow-up procedures mean many cases go unconfirmed and unmanaged.
The research team analysed more than 2,500 womb cancer cases across the UK and Ireland between 2022 and 2023. They found that 91 per cent of tumours were appropriately tested for Lynch syndrome indicators — a promising statistic. However, in most cases, the test results were not passed on to the wider clinical team.
This breakdown in communication meant that referrals for genetic counselling and confirmatory blood testing were not consistently made, leaving patients in diagnostic limbo. Only around two-thirds of those eligible for genetic counselling were referred for further appointments. Even among those referred, long waiting lists and high dropout rates meant that only 48 per cent of eligible womb cancer patients eventually underwent the crucial blood tests required to confirm a Lynch syndrome diagnosis.
“This gap is deeply troubling,” said Dr Neil Ryan, clinical lecturer at the University of Edinburgh’s Centre for Reproductive Health. “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,” he added.
Lynch syndrome is not just a personal health issue — it has family-wide implications. Since the condition is inherited, undiagnosed patients can unknowingly pass it on to their children or siblings, leaving them vulnerable to various forms of cancer, particularly colorectal and endometrial cancers.
Early detection of Lynch syndrome is critical. With proper diagnosis, patients can take preventive measures such as:
Taking aspirin to reduce cancer risk
Undergoing regular colonoscopies to detect early bowel cancer
Considering preventive surgeries, like hysterectomy, to avoid womb cancer
Dr Ryan emphasised that mainstreaming Lynch syndrome testing must go beyond just tumour analysis. “Tumour testing is only cost-effective if it leads to diagnosis — we urgently need to make mainstream testing truly mainstream,” he said.
Beyond patient outcomes, timely diagnosis can reduce healthcare costs, prevent later-stage cancers, and lead to more effective long-term care.
The study serves as a wake-up call for policymakers, oncologists, and genetic counsellors, urging them to bridge the gap between tumour testing and clinical follow-up.
As genetic testing becomes more integral to cancer care, the researchers hope their findings will spur improvements in communication, referral systems, and resource allocation to ensure no patient falls through the cracks.
