Latest news with #NeilRyan
The Independent
17 hours ago
- Health
- The Independent
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.
Powys County Times
19 hours ago
- Health
- Powys County Times
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. We have launched a Guide to #LynchSyndrome to help provide information and support to anyone who thinks they may have it, that it may run in the family, or have found out they have it. — The Eve Appeal (@eveappeal) February 13, 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. Today's #LynchSyndromeAwarenessDay. Our policy team sat down with our supporter, Jane, to share her experience. As well as highlighting what else needs to be done to improve Lynch syndrome care. Read our blog: — Bowel Cancer UK (@bowelcanceruk) March 22, 2025 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.
South Wales Guardian
20 hours ago
- Health
- South Wales Guardian
Women with genetic cancer risk being ‘missed' due to testing gaps
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. We have launched a Guide to #LynchSyndrome to help provide information and support to anyone who thinks they may have it, that it may run in the family, or have found out they have — The Eve Appeal (@eveappeal) February 13, 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. Today's #LynchSyndromeAwarenessDay. Our policy team sat down with our supporter, Jane, to share her experience. As well as highlighting what else needs to be done to improve Lynch syndrome care. Read our blog: — Bowel Cancer UK (@bowelcanceruk) March 22, 2025 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.'
STV News
20 hours ago
- Health
- STV News
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.' Get all the latest news from around the country Follow STV News Scan the QR code on your mobile device for all the latest news from around the country
North Wales Chronicle
a day ago
- Health
- North Wales Chronicle
Women with genetic cancer risk being ‘missed' due to testing gaps
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. We have launched a Guide to #LynchSyndrome to help provide information and support to anyone who thinks they may have it, that it may run in the family, or have found out they have — The Eve Appeal (@eveappeal) February 13, 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. Today's #LynchSyndromeAwarenessDay. Our policy team sat down with our supporter, Jane, to share her experience. As well as highlighting what else needs to be done to improve Lynch syndrome care. Read our blog: — Bowel Cancer UK (@bowelcanceruk) March 22, 2025 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.'
