Latest news with #Li-Fraumeni
Forbes
a day ago
- Health
- Forbes
How A Rare Mutation Exposed Weaknesses In Sperm Donation Oversight
A recent case in Europe has reignited debate over the regulation of sperm donation after a man unknowingly carrying a rare, cancer-causing genetic mutation fathered at least 67 children across eight countries. Ten of these children have been diagnosed with cancer, including leukemia, brain tumors and lymphomas. The case demonstrates how advances in reproductive medicine can outpace regulatory safeguards. It highlights the urgent need for robust genetic screening and thoughtful policy in reproductive medicine—a theme explored in greater depth in the new book, Destiny's Child No Longer: Rewriting the Genetic Future. The donor's sperm carried a mutation that causes Li-Fraumeni syndrome or LFS, one of the most severe inherited cancer predisposition syndromes. Individuals with the syndrome face a dramatically increased risk of developing a wide range of cancers, often at a young age, and may develop multiple cancers over their lifetime. The lifetime cancer risk for carriers is estimated at up to 90% by age 60, with about half developing cancer before age 40. The donor himself is healthy, and the mutation was not known to be cancer-causing at the time of his donations between 2008 and 2015. The issue came to light when two families, each with children diagnosed with cancer, independently contacted their fertility clinics. Genetic analysis linked the cases to the same donor. This prompted a more exhaustive investigation. Of the 67 children identified as having been conceived with the donor's sperm, 23 were found to carry the mutation. Children who inherit the mutation not only face a high risk of early-onset cancers but also have a 50% chance of passing the mutation to their own children. Ten of the children have developed cancer to date. The affected families now face lifelong medical surveillance for their children. The required medical procedures include regular whole-body MRI scans and specialist evaluations. The burden of this ongoing surveillance, uncertainty, and potential medical intervention is considerable. Still, while stressful, these protocols have been shown to improve outcomes by enabling the early detection of tumors. This case highlights a critical gap: the absence of internationally agreed-upon limits on the number of children conceived from a single donor. Some countries impose strict limits, such as a maximum of 10 children per donor. Others, including the United States, have no binding regulations. An absence of limits placed on children by donors can result in sibling groups that may number in the dozens or even hundreds. In Europe, regulations are inconsistent, with limits varying and enforcement complicated by cross-border reproductive care. Experts have long warned that having many siblings can pose psychological risks. These include the risk of unintentional inbreeding and the challenge of tracing family connections when health issues arise. This case shows how much harder it gets when a rare genetic disorder is involved, making it difficult to inform and support all affected families spread across different countries. While sperm banks routinely screen donors for common genetic diseases and conduct thorough medical and family history reviews, rare mutations like the one implicated here often escape detection. Whole-genome sequencing of all donors is not currently standard practice due to the high cost and the limited ability to interpret the clinical significance of many rare variants. The case has prompted renewed calls from geneticists, clinicians and ethics councils for the establishment of international standards that limit the number of children per donor and improve cross-border coordination in donor tracking and notification. There is also growing advocacy for enhanced genetic counseling and support for donor-conceived individuals and their families. This incident underscores the need for limits on the number of children each donor can have. Such limits can help reduce the risk of spreading rare genetic disorders and enhance communication in the event of a medical issue. Enhanced cross-border collaboration among fertility clinics, sperm banks and health authorities is also necessary to ensure timely notification and assistance when genetic risks are identified. Centralized registries could enable real-time tracking of donors. Denmark's model, which limits donors to 12 children across six families, offers a framework for regional coordination. There is also a need for enhanced genetic screening protocols, potentially incorporating more advanced sequencing techniques for donors while balancing considerations of cost, privacy and interpretive challenges. Cost-effective genetic screening in sperm banks is increasingly achievable through targeted approaches and technological innovation. Rather than relying solely on whole-genome sequencing, which remains expensive for routine use, many banks now employ tiered genetic panels that prioritize high-penetrance genes known to cause severe conditions. This focused strategy can reduce testing costs by 60% to 80% compared to broader, less targeted screening. Collaborative databases that enable sperm banks to share mutation libraries and screening results help reduce redundant testing, resulting in a 30% reduction in per-donor screening costs. Advances in artificial intelligence and machine learning are also contributing to this effort. These technologies can identify donors who are at a higher risk of carrying undetected mutations, lowering false-negative rates by up to 40% and enhancing overall efficiency. Public-private partnerships, such as those modeled after the National Institutes of Health's All of Us program, could further subsidize advanced screening, making comprehensive genetic assessments more accessible without significantly increasing costs. As technology and data-sharing practices advance, these combined measures offer a practical approach to enhancing donor screening while maintaining affordability for both clinics and recipients. As reproductive technology continues to advance and global mobility increases, this case serves as a cautionary tale regarding the unintended consequences that can arise when regulation and oversight fail to keep pace with scientific advances. The challenge now lies in ensuring that the promise of assisted reproduction is matched by a commitment to the safety and well-being of all involved—donors, recipient families and, primarily, the children themselves.
Indian Express
29-05-2025
- Health
- Indian Express
Sperm donor with cancer-linked mutation fathered 67 children across Europe; 10 diagnosed with cancer
A sperm donor carrying a rare genetic mutation associated with a high risk of cancer has fathered at least 67 children across Europe, with 10 of them now diagnosed with cancers including brain tumours and Hodgkin lymphoma, according to researchers speaking at a genetics conference in Milan. The donor, who remains healthy, carried a mutation in the TP53 gene, which can cause Li-Fraumeni syndrome—a hereditary condition that significantly raises the risk of developing cancer early in life. The mutation was undetected at the time of donation. 'This is heavy and stressful for carriers,' said Edwige Kasper, a biologist at Rouen University Hospital in France, who presented the findings at the European Society of Human Genetics annual conference. 'But we have seen [surveillance] enable early detection of tumours and thus improved patients' chances of survival.' According to Kasper, children conceived using the donor's sperm were born between 2008 and 2015 to 46 families in eight European countries: France, Belgium, Germany, Denmark, Sweden, Spain, Greece, and the United Kingdom. Thirteen of the donor-conceived children carry the mutation but have not developed cancer so far. They now require lifelong monitoring, including regular MRI scans and clinical evaluations due to their elevated risk and a 50% chance of passing the mutation to their own offspring. The donor had contributed exclusively to European Sperm Bank, a private facility based in Denmark. 'At the heart of the problem seems to lie the regulation, or maybe the lack of regulation, of the number of births by a single donor,' Kasper said. The European Sperm Bank responded in a statement to CNN, acknowledging the situation as troubling. 'The donor has been thoroughly tested even above the required standards,' said Julie Paulli Budtz, the bank's vice president of corporate communications. 'But preventative genetic screening is reaching its limits here. It's scientifically not possible to detect disease-causing mutations in every gene unless you know what you're looking for.' Unlike France, where sperm donors are limited to 10 births, Denmark allows up to 12 and Germany permits up to 15. The lack of uniformity across Europe is a key issue, as per experts. To prevent future cases, the European Sperm Bank said it has voluntarily implemented a self-imposed international limit of 75 families per donor, although this is above the legal limit in several individual countries. (With inputs from CNN)
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Business Standard
29-05-2025
- Health
- Business Standard
Sperm donor with cancer gene fathered 67 kids across Europe; 10 diagnosed
Imagine finding out that a sperm donor you trusted unknowingly carried a rare gene mutation linked to cancer, and that 10 of the 67 children he fathered across eight countries have already been diagnosed with serious cancers like leukemia. According to a report by The Guardian, a sperm donor, whose genetic mutation went undetected during standard screenings, fathered at least 67 children across eight European countries. Out of them, 10 of these children have been diagnosed with cancers such as leukemia and non-Hodgkin lymphoma. This case has sparked discussions about the urgent need for stricter international regulations on sperm donation and the limit on the use of sperm. What exactly happened in this sperm donor case? Between 2008 and 2015, a sperm donor unknowingly carrying a rare mutation in the TP53 gene, associated with Li-Fraumeni syndrome, a severe inherited cancer predisposition, fathered 67 children from 46 families in Europe. The variant was found in 23 children, 10 of whom have been diagnosed with cancer. Standard screening methods at the time did not detect this mutation. The European Sperm Bank, which supplied the sperm, confirmed the presence of the mutation. This revelation came after two families independently contacted their fertility clinics upon their children's cancer diagnoses. What is Li-Fraumeni syndrome, and how does it affect children? According to the Cleveland Clinic, an American nonprofit academic medical centre based in Cleveland, Ohio, Li-Fraumeni syndrome is a rare hereditary condition caused by mutations in the TP53 gene. People with this condition have a 90 per cent likelihood of developing at least one type of cancer by the age of 60. Nearly half of them experience cancer before turning 40. For females with Li-Fraumeni syndrome, breast cancer is especially common, occurring in almost all cases. How did this genetic mutation go undetected during donor screening? At the time of the donations, standard screening protocols did not include comprehensive genetic testing to identify rare mutations like the one in the TP53 gene. As a result, the donor's mutation went unnoticed, highlighting a significant gap in the screening process. What are the regulations on the number of children a sperm donor can father? According to the report, regulations vary by country. For instance, in the UK, a donor's sperm can be used to create up to 10 families. Denmark allows up to 12 children per donor. In India, sperm donation is governed by the Assisted Reproductive Technology (Regulation) Act, 2021. According to the Act, a donor's sperm should not be supplied to more than one couple for reproductive purposes. "A bank shall not supply the sperm of a single donor to more than one commissioning couple," the Act says. This regulation aims to reduce the risk of consanguinity (genetic relatedness) among offspring. However, the Act does not explicitly limit the number of children a sperm donor can father. However, the European Sperm Bank, which supplied the sperm in this case, has a self-imposed global limit of 75 families per donor. The lack of standardised international regulations allows for discrepancies and potential overuse of donor sperm across borders. Experts are now calling for internationally standardised limits on the number of families per sperm donor and creating centralised registries for improved tracking of donor-conceived children across borders. Dr Edwige Kasper, a biologist at Rouen University Hospital in France, emphasised the need for a European limit on births per donor. Accoridng to The Guardian, she stated, "We need to have a European limit on the number of births or families for a single donor. We can't do whole-genome sequencing for all sperm donors... But this is the abnormal dissemination of genetic disease." How can prospective parents ensure the safety of donor sperm? According to India's ART Act, 2021, prospective parents should seek sperm from reputable, regulated sperm banks that are registered under the Act and adhere to stringent medical screening protocols. The Act strongly recommends that prospective parents confirm that the donor has undergone all mandatory screenings and that the sperm has been quarantined and retested. It is essential to ask about the donor's medical and genetic history. For more health updates, follow #HealthWithBS
India Today
28-05-2025
- Health
- India Today
Sperm donor with cancer gene fathers 67 children, 10 of them have cancer now
A shocking case from Europe has ignited concerns over sperm donation regulations.A donor, who unknowingly carried a rare cancer-linked genetic mutation, has fathered at least 67 children, ten of whom have already been diagnosed with donor's sperm, used between 2008 and 2015, led to children being born in eight European countries, which has raised urgent questions about the limits placed on donor use and genetic screening The issue came to light during a presentation by Edwige Kasper, a biologist at Rouen University Hospital in France, at the annual European Society of Human Genetics conference in researcher explained that the donor carried a mutation in the TP53 gene, which is linked to Li-Fraumeni syndrome, a rare genetic disorder known to increase a person's lifetime risk of developing the time of the donations, the mutation was not known or detectable through standard genetic donor appeared healthy, and his sperm was distributed only through a private sperm bank in Denmark, the European Sperm Bank. However, years later, a pattern emerged as doctors across Europe began to notice a worrying trend among children conceived with his sperm. A donor, who unknowingly carried a rare cancer-linked genetic mutation, has fathered at least 67 children, ten of whom have already been diagnosed with cancer. () advertisementSo far, 10 children have developed serious cancers such as brain tumors, leukemia, Hodgkin lymphoma, and non-Hodgkin lymphoma. An additional 13 children carry the mutation and are at high risk of developing cancer in the future."This mutation acts like a ticking time bomb. Children who inherited it need lifelong monitoring with frequent and intensive screenings," Kasper said in a press have recommended regular whole-body MRIs, brain scans, and abdominal ultrasounds for affected the process is stressful and heavy, early detection has already helped catch some cancers early, giving affected children a better chance at makes this case more alarming is that there is currently no international limit on how many children can be born from a single sperm donor, according to a report by The the European Sperm Bank has since implemented its own limit of 75 families per donor, the damage may have already been done."This case is deeply troubling. We followed and even exceeded genetic screening protocols, but no test can screen for all 20,000 human genes unless you know exactly what to look for," said Julie Paulli Budtz, Vice President of Corporate Communications at the European Sperm Bank told complexity of sperm donations across borders also poses a significant donor sperm is distributed internationally, it becomes increasingly difficult to track outcomes and ensure the donor is reportedly still healthy and unaware of the mutation at the time of donation, the fact remains that his genetic variant has now impacted dozens of children and their families, many of whom now face lifelong medical team has called for genetic counselling for all affected children and for a serious review of sperm donation Watch
Yahoo
27-05-2025
- Health
- Yahoo
Sperm donor with rare genetic mutation fathered 67 children. Ten now have cancer, prompting calls for reform
The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, prompting calls for greater regulation and a limit on the number of births allowed from a single donor. Sperm from the donor was used to conceive at least 67 children from 46 families born between 2008 and 2015, said Edwige Kasper, a biologist at Rouen University Hospital in France, during a presentation at the annual conference of the European Society of Human Genetics in Milan on Saturday. Ten of the children have already been diagnosed with cancer. 'At the heart of the problem seems to lie the regulation, or maybe the lack of regulation, of the number of births by a single donor,' she said. Analysis showed that the donor, who is himself healthy, had a rare mutation in a gene named TP53, which is likely to cause Li-Fraumeni syndrome, a rare disorder that increases a person's risk of developing cancer. The mutation was not known when the donation was made, but children born from this donor have since been identified in eight different European countries: Belgium, Denmark, France, Germany, Greece, Spain, Sweden and the United Kingdom, said Kasper in her presentation. Ten of them have been diagnosed with cancers such as brain tumors and Hodgkin lymphoma, and another 13 children are carrying the gene but have not yet developed a cancer. They will require regular medical examinations due to their increased risk of developing cancer, and have a 50% chance of transmitting it on to their own children, said Kasper. 'The follow-up protocol involves whole-body MRI scans, MRI scans of the brain and, for adults, of the breast, ultrasound examination of the abdomen, and a clinical examination by a specialist. This is heavy and stressful for carriers, but we have seen its effectiveness in that it has enabled early detection of tumours and thus improved patients' chances of survival,' said Kasper in a press release. Unlike in some cases of serial sperm donors, such as a Dutch man who was ordered to stop donating sperm after being found to have fathered between 500 and 600 children around the world, this man only donated to a single private sperm bank in Denmark named the European Sperm Bank. Julie Paulli Budtz, vice-president of corporate communications at the European Sperm Bank, told CNN that it was 'deeply affected by this case.' 'The donor has been thoroughly tested even above the required standards, but preventative genetic screening is reaching its limits here,' she said in a statement sent to CNN on Monday. 'Every human being has about 20,000 genes, and it is scientifically simply not possible to detect disease-causing mutations in a person's gene pool if you don't know what you are looking for.' There is currently no limit on the number of children that are allowed to be born using a single donor, something which Budtz said the European Sperm Bank would like to change. 'This is also why, in addition to following national pregnancy limits, we have proactively implemented our own international limit of 75 families per donor,' she said. This limit is self-imposed as regulations vary from country to country. For example, France has a limit of 10 births per donor, while Denmark allows 12 and Germany allows up to 15, according to the press release. 'There is a major issue here concerning a lack of harmonised regulation across Europe,' Kasper said in the release. 'We need proper regulation at European level to try to prevent it happening again, and to implement measures to ensure a worldwide limit on the number of offspring conceived from the same donor.'
