Ten children have already been diagnosed with cancer; 13 others carry gene requiring lifelong testing
Shocking news about a single sperm donor’s shared gene mutation has shed light on shortfalls in preventative clinical laboratory genetic screening.
The otherwise-healthy donor’s sperm has already led to various cancer diagnoses for 10 of the children he fathered, including Hodgkin lymphoma and brain tumors, CNN reported.
“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,” CNN reported.
Though it may be an anomaly, this occurrence has generated calls for increased regulation on the use of donated sperm.
“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,” said Edwige Kasper, PhD, oncogenetic biologist at Rouen University Hospital in France, at the annual conference of the European Society of Human Genetics in Milan, Italy, CNN reported. (Photo copyright: LinkedIn.)
Limits to Genetic Screening
“Preventative genetic screening is reaching its limits here,” Julie Paulli Budtz, vice-president of corporate communications at the European Sperm Bank, told CNN. Budtz noted that in this case, the donor was tested even above traditional standards.
“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,” she told CNN.
At least in this situation, the need for improvement is evident and will likely inspire continued research and development in the genetic testing capabilities.
“The fact that the case in point is very rare does not mean that it will not reoccur,” Kasper noted in the ESHG press release.
Calls for Increased Regulation of Sperm Donations
At the European Society of Human Genetics (ESHG) annual conference in May, Edwige Kasper, PhD, an oncogenetic biologist and specialist in genetic predisposition to cancer at Rouen University Hospital in France, explained how one European man’s sperm donations spanning from 2008-2015 resulted in the birth of 67 children, 23 of whom have already been impacted by his cancer-causing genetic mutation, CNN reported.
“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,” she noted.
The man unknowingly carried the TP53 gene mutation, which causes Li-Fraumeni syndrome, predisposing him and his descendants to developing cancer, E News reported.
ESHG’s press release describes Li-Fraumeni as “one of the most severe inherited predispositions to cancer that is characterized by a broad spectrum of tumors at an early age.”
Additional Case Details
In addition to the 10 children with cancer diagnoses, another 13 he fathered are currently cancer-free but carry the gene, which now subjects them to invasive life-long testing including whole-body MRI scans to clinical exams and scans of the brain, breast, and abdomen, CNN noted.
“[The procedure is] heavy and stressful for carriers, but we have seen its effectiveness in that it has enabled early detection of tumors and thus improved patients’ chances of survival,” Kasper said in the ESHG press release.
The offspring of these 10 children will have a 50% greater chance of receiving the gene as well, CNN added.
—Kristin Althea O’Connor
