Latest news with #geneticCounseling
The Independent
2 days 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.
The Independent
2 days ago
- Health
- The Independent
More testing needed for genetic cancer risk as too many women ‘missed', experts say
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 per cent 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 per cent) 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 per cent 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.'
The Independent
2 days ago
- Health
- The Independent
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.'
The Independent
3 days ago
- Health
- The Independent
More testing needed for genetic cancer risk as too many women ‘missed,' experts say
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.'
Daily Mail
29-05-2025
- Health
- Daily Mail
Poll reveals the British communities most likely to back first cousin marriages - but huge majority think it should be outlawed
A new poll has revealed the British communities that are most likely to back first cousin marriages, although a large majority think the practice should be outlawed. Pakistani and Bangladeshi Britons are most likely to support the first cousin marriages, with 39 percent of those polled saying it should be legal. While 47 percent of the community say the practice should not be legal, this compares to just eight percent of white Britons who support first-cousin marriage. Six percent of black Britons say marrying a cousin should be legal, with nine percent of Indian Britons holding the same view. While marrying close relatives including siblings and half-siblings is illegal in the UK, marrying a first cousin is technically legal. Some 77 percent of white and Indian Britons believe marrying a cousin should be made illegal, compared to 82 percent of black Britons. Currently the UK follows the practice of 'genetic counselling', in which first cousins who are in a relationship are offered education about the risk of having children together and encouraged to receive extra checks during pregnancy. It is estimated that children of a first-cousin union have a six percent chance of inheriting a recessive disorder such as cystic fibrosis or sickle cell disease - double the risk of the general population. Conservative MP Richard Holden last year introduced a private members' bill to ban the practice, which would bring cousin marriages into the same bracket as marrying a parent, child, sibling or grandparent. But some have warned that outlawing the practice completely risks stigmatising those already in first cousin marriages in the UK. Amongst these was Independent MP Iqbal Mohamed, who drew huge criticism last year for defending cousin marriage. Instead of banning it outright, he said a 'more positive approach' involving advanced genetic tests for prospective married cousins would be more effective in addressing issues around it. One of Britain's foremost experts on child health also defended the right for first cousins to marry, dismissing concerns about inbreeding. Professor Dominic Wilkinson, an NHS neonatologist and ethics expert at the University of Oxford, argued a ban would be 'unethical'. Instead, Professor Wilkinson backed calls for such couples to be offered special screening on the NHS to help them decide if they should have children. Such tests can cost £1,200 privately. They are designed to spot whether prospective parents are carriers for the same genetic conditions, such as cystic fibrosis and spinal muscular atrophy. It comes as data from 2023 showed in three inner-city Bradford wards, 46 percent of mothers from the Pakistani community are married to a first or second cousin, according to data published in 2023. The overall estimate for Bradford Pakistani couples was 37 percent ten years ago, and this figure has since dropped. Reasons behind the fall are thought to include high educational attainment, stricter immigration rules and changes in family dynamics. It compares to just one percent of white British couples. YouGov's data also revealed that those in London are most likely to support first cousin marriage, at 15 percent. The north followed at 12 percent, while in the Midlands it was ten percent. The south of England and Wales were the least likely to support it being legal, at six and seven percent respectively. Historically, first cousin marriages were extremely common amongst royalty and the British upper classes. It was seen as a way of firming up alliances and keeping wealth and land in the family. MailOnline recently revealed that no-one is tracking the rate of cousin marriages in the UK, with councils not recording any data on the issue. Studies have put Pakistan as having one of the highest rates globally at 65 percent of unions. This is followed by Saudi Arabia (50 percent), Afghanistan (40 percent), Iran (30 percent) and Egypt and Turkey (20 percent).
