Abstract

To illustrate the uses and benefits of banked extracted DNA on semen donors based on our experience with genetic evaluation needs after the donor’s initial qualification. Data was compiled for all additional genetic evaluation needs on California Cryobank (CCB) semen donors from 2017 to 2018 following the donor’s initial qualification. Cases involving stored DNA as the utilized sample type were identified. The data was then evaluated based on the specific indication for the additional testing. Not applicable. Banked extracted DNA was utilized for genetic evaluation purposes in 24 cases involving 19 donors. In the majority of cases (13/24), the additional testing was performed based on a recipient’s request to evaluate the donor’s carrier status for an autosomal recessive condition for which the recipient was a carrier. One case involved a request to perform HLA testing for compatibility purposes. In seven cases, extracted DNA was utilized for preimplantation genetic testing (PGT) assay creation based on recipient need. Three cases involved additional genetic testing on the donor prompted by the report of a genetic condition in a donor-conceived offspring. In 2 of these 3 cases, testing confirmed the donor’s carrier status for an autosomal recessive condition for which he was not previously tested, resulting in restricted distribution of remaining vials and recipient notifications. Banking extracted DNA on gamete donors is advantageous both for gamete donor facilities and recipients. Banked DNA is valuable when a donor is unavailable for sample collection and may serve multiple purposes, including additional evaluations to investigate reports of genetic diagnoses in donor-conceived offspring. Given the rapid evolution and availability of genetic testing, gamete donor facilities may consider a uniform approach to DNA banking on donors with careful attention to the initial consent process for DNA collection and re-contacting donors to discuss requests for specific uses of their DNA samples.

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