Investigation Reveals Donor Sperm with Genetic Mutation
An investigation has revealed that sperm from a donor carrying a genetic mutation, which significantly increases cancer risk, was used to conceive at least 197 children across Europe. Some of these children have already died, and a majority inheriting the mutation are projected to develop cancer during their lifetimes.
While this donor's sperm was not distributed to clinics in the UK, a small number of British families, who underwent fertility treatment in Denmark using this donor's sperm, have been identified and informed. The European Sperm Bank, based in Denmark, stated its sympathy for affected families and acknowledged that the donor's sperm had been used for more conceptions than permitted by national regulations in certain countries.
The Genetic Mutation
The investigation, a collaborative effort by 14 public service broadcasters including the BBC, was conducted as part of the European Broadcasting Union's Investigative Journalism Network. The donor, an anonymous individual who began donating sperm in 2005 as a student, passed initial donor screening checks and remains healthy. His sperm was utilized over approximately 17 years.
However, a mutation occurred in the DNA of some of his cells before his birth. This mutation affected the TP53 gene, which plays a critical role in suppressing tumor development. While the majority of the donor's body does not carry this mutated form of TP53, up to 20% of his sperm do. Children conceived with affected sperm will carry the mutation in every cell of their bodies.
This condition is identified as Li Fraumeni syndrome, which carries up to a 90% lifetime probability of developing various cancers, including childhood cancers and later-life breast cancer. Medical management for individuals with Li Fraumeni syndrome involves annual MRI scans of the body and brain, along with abdominal ultrasounds, for early tumor detection. Women with the syndrome sometimes elect to undergo preventative breast removal to reduce their cancer risk.
The European Sperm Bank clarified that the donor and his family members are not ill, and that such a mutation is not typically detected by preventative genetic screening. The bank stated that the donor was immediately blocked upon discovery of the issue.
Impact on Children and Families
Concerns regarding children with cancer linked to sperm donation were first raised at the European Society of Human Genetics this year. Initial data indicated 23 children with the variant out of 67 known cases, with 10 already diagnosed with cancer. Subsequent investigations, utilizing Freedom of Information requests and interviews, have increased the confirmed number of children conceived with this donor's sperm to at least 197, though the final count may be higher as data from all countries is not yet complete. The exact number of children who inherited the dangerous variant is also unknown.
Dr. Edwige Kasper, a cancer geneticist at Rouen University Hospital in France, noted that multiple children have developed cancer, some have developed two distinct cancers, and some have died at an early age.
Céline (pseudonym), a single mother in France, whose 14-year-old child was conceived with the donor's sperm and carries the mutation, was notified by her Belgian fertility clinic. She expressed concerns about receiving sperm that was not deemed safe due to the carried risk, acknowledging the continuous cancer risk her family faces.
Regulatory Oversight and International Practices
The donor's sperm was distributed to 67 fertility clinics across 14 countries. Following this investigation, Danish authorities informed the UK's Human Fertilisation and Embryology Authority (HFEA) that British women had traveled to Denmark for treatment using the donor's sperm. These women have been contacted by the Danish clinic. The HFEA confirmed a "very small number" of women were affected in the UK context.
There is no overarching international legal framework dictating the maximum number of times a donor's sperm can be used globally. However, individual countries establish their own limits. The European Sperm Bank acknowledged that these national limits had been exceeded in some countries and reported being in communication with authorities in Denmark and Belgium. For example, Belgium's limit is six families per donor, but this donor was used by 38 women, resulting in 53 children. The UK maintains a limit of 10 families per donor.
Professor Allan Pacey, former head of Sheffield Sperm Bank and deputy vice president at the University of Manchester's Faculty of Biology Medicine and Health, noted that many countries depend on large international sperm banks for imported sperm, with half of the UK's sperm supply being imported. He highlighted that the lack of international regulation on donor usage can present challenges. Professor Pacey commented on the situation's regrettable nature for those involved, emphasizing the complexity of ensuring complete safety in sperm donation, given that only 1-2% of applicants are accepted under current screening protocols.
This incident, alongside other cases involving extensive donor usage, has prompted renewed discussions regarding the implementation of stricter limits on donor conceptions. The European Society of Human Reproduction and Embryology recently proposed a limit of 50 families per donor, primarily for the social and psychological well-being of children who may discover they have numerous half-siblings, rather than for reducing genetic disease risk.
Sarah Norcross, director of the Progress Educational Trust, a charity addressing infertility and genetic conditions, suggested that further action is needed to control the number of families created globally from the same donors, citing potential social and psychological implications for children with many half-siblings.
The European Sperm Bank reiterated the importance of donor sperm for thousands of individuals and couples, stating that using donor sperm screened according to medical guidelines is generally safer for conception.