Women with genetic cancer risk being ‘missed' due to testing gaps
Families of some cancer patients are being denied the chance to find out about their cancer risk due to gaps in genetic testing, a new study has suggested.
A lack of testing for Lynch syndrome also means some cancer patients are unaware of their risk of developing other cancers, academics said.
Lynch syndrome is a rare condition which runs in families which puts people at a higher risk of developing cancers of the bowel, womb and ovaries.
It is caused by a mutation in the gene that fixes mistakes in DNA when it is copied, which can lead to uncontrolled cell growth.
Patients with bowel or womb cancer should have their tumours assessed for markers of Lynch syndrome, according to guidance for the NHS.
If these markers are identified, patients should be referred for genetic testing so the diagnosis can be confirmed and they can get support and advice about cancer risk for themselves and their family.
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.'
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