Genetic screening is carried out for sperm donors to disqualify carriers of a limited number of recessive disease mutations, but more comprehensive and affordable DNA-based screening methods are now available that can detect many more disease-causing genetic variations.
To protect future children from highly heritable diseases, sperm banks need to modernize their testing methods, according to an article published in Genetic Testing and Molecular Biomarkers, a peer-reviewed journal.
In the article titled "Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children," Ari Silver, Jessica Larson, Maxwell Silver, Regine Lim, Carlos Borroto, Brett Spurrier, Anne Morriss, and Lee Silver, Gene Peeks, Inc. (Cambridge, MA and New York, NY) and Princeton University (Princeton, NJ), compared the results of DNA-based screening of sperm donors using three commercial carrier-testing panels versus next generation DNA sequencing (NGS) technology.
"What this study shows is that all persons contain lethal recessive mutations," says Genetic Testing and Molecular Biomarkers Editor-in-Chief Garth D. Ehrlich, center for Genomic Sciences and Center for Advanced Microbial Processing, Institute for Molecular Medicine and Infectious Disease, Drexel College of Medicine (Philadelphia, PA).
"Thus, Silver et al have demonstrated that what is really needed in the realm of mate choice analyses are whole genome studies of both members of a potential mate-pair to ensure that they don't both carry recessive mutations in the same gene(s). Current sperm bank testing, based on the use of target gene panels, will give prospective mothers a false sense of security that their unborn children will be free of the risk of recessive diseases."