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Gaps in genetic testing mean some patients not informed about cancer risk
- A new study reveals inconsistencies in genetic testing for Lynch syndrome, potentially leaving cancer patients and their families unaware of their risk of developing other cancers.
- Lynch syndrome is a rare hereditary condition that elevates the risk of bowel, womb, and ovarian cancers due to a gene mutation affecting DNA error correction.
- The University of Edinburgh study examined data on 2,500 womb cancer patients and found that while 91 per cent of tumours were tested for Lynch syndrome markers, the results were not always communicated to clinical teams, hindering follow-up genetic counselling.
- Of the 181 eligible participants, only 64 per cent were referred for genetic counselling, and due to long waits and high dropout rates, only 48 per cent ultimately received the test.
- Dr. Neil Ryan from the University of Edinburgh emphasises the need for mainstream testing to be truly mainstream to ensure timely diagnosis and reduce cancer risk for patients and their relatives.