More testing needed for genetic cancer risk as too many women ‘missed,' experts say

Independent

a day ago

A new study has revealed that families of some cancer patients are being denied the opportunity to learn about their potential cancer risk due to inconsistencies in genetic testing.
Academics have warned that the absence of adequate testing for Lynch syndrome is leaving some cancer patients unaware of their risk of developing other cancers.
Lynch syndrome, a rare hereditary condition, elevates the risk of cancers of the bowel, womb, and ovaries. It arises from a gene mutation affecting DNA error correction during replication, potentially leading to uncontrolled cell growth.
NHS guidelines stipulate that patients with bowel or womb cancer should undergo tumour assessments for Lynch syndrome markers.
The identification of these markers should prompt a referral for genetic testing, confirming the diagnosis and enabling access to support and guidance regarding cancer risks for both the patients and their families.
A new study by academics at the University of Edinburgh found not all womb cancer patients are being sent for genetic testing.
Researchers examined data on 2,500 womb cancer patients across the UK and Ireland between 2022 and 2023.
They found that 91% of tumours were tested for markers of Lynch syndrome, but the test results were not routinely communicated to the wider clinical team.
This means that follow-up genetic counselling and blood tests were not always arranged.
Of the 181 participants eligible for genetic counselling, just under two-thirds (64%) were referred for appointments, according to the study, which has been published in the journal BMJ Oncology.
Researchers said those who were referred faced long waits, resulting in high dropout rates, meaning only 48% of those eligible went on to get the test.
Experts from the university said gaps in testing mean some womb cancer patients with Lynch syndrome go undetected.
Family members are also left vulnerable to cancer risk, unaware they may have the condition.
Dr Neil Ryan, from the University of Edinburgh, who leads the UK audit and research collaborative in obstetrics and gynaecology, 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.'