Health experts in the United Kingdom (UK) are urging cancer patients and their families to undergo genetic testing following a new study that highlights serious gaps in the detection of Lynch syndrome, a rare inherited condition linked to several types of cancer.
The research, carried out by the University of Edinburgh, shows that although most womb cancer patients had their tumours tested for Lynch syndrome markers, many were not referred for further genetic testing.
This means that patients who could be at risk of developing more cancers, as well as their family members, may be left unaware of the condition.
Lynch syndrome increases the risk of cancers in the bowel, womb, and ovaries. It is caused by a genetic mutation that affects the body’s ability to repair DNA, potentially leading to uncontrolled cell growth.
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Current NHS guidelines recommend that patients diagnosed with womb or bowel cancer should have their tumours tested for signs of Lynch syndrome.
If these markers are found, the patient should then be offered further genetic testing through a blood test. This helps confirm the diagnosis and provides families with important information about their potential cancer risks.
Study data of cancer patients
The study looked at data from 2,500 womb cancer patients across the UK and Ireland between 2022 and 2023.
While 91% of patients had tumour tests, the results were often not passed on to the wider medical team. As a result, many patients missed out on referrals for genetic counselling and follow-up tests.
Out of 181 patients who qualified for further testing, only 64% were referred. Of those, less than half completed the genetic test, often due to long waiting times and follow-up delays.
Experts are calling for urgent improvements in the system to ensure patients who are at risk are identified early. Without proper referral and testing, many individuals and their families remain unaware of their vulnerability to cancer and miss the chance to take preventive steps.
