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Updated: Jul 19, 2025
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Determining the right "dose" of genetic testing for gamete donors
Michelle J Bayefsky1, David L Keefe2, Arthur K Caplan3
1New York University Langone Health, Grossman School of Medicine, New York, New York.
Importance:
Genetic testing of gamete donors is becoming increasingly comprehensive and now often includes expanded carrier screening. Some argue that testing has gone too far, whereas others propose that testing is not extensive enough. Thinking critically about how much genetic testing is appropriate for gamete donors is crucial for ensuring that market forces alone do not determine the level of testing that is performed.
Objective:
The goal of this paper is to highlight contradictions in the current approach toward genetic testing of gamete donors and to suggest that we either embrace the value of preventing the birth of children with hereditary diseases and do so in a logical and consistent manner or consider reducing our level of genetic testing for gamete donors.
Evidence Review:
The Food and Drug Administration requires screening for infectious diseases and the American Society for Reproductive Medicine recommends screening for a small number of common recessive conditions. However, private donor banks are increasingly performing karyotype testing and expanded carrier screening.
Findings:
There are 2 major inconsistencies in our current approach to genetic testing of gamete donors: (1) if genetic information is valued by gamete recipients, why should testing stop with recessive conditions, and not expand to dominant conditions or even polygenic risk scoring? (2) Why should gamete donors be asked to undergo testing that may or may not be reciprocated by gamete recipients? Addressing these inconsistencies requires us to consider the ultimate goal of testing gamete donors' genes. We argue that the present, default goal is empowerment of gamete recipients, whereas an alternative and more laudable mission is to avoid preventable, heritable disease in offspring. However, the latter brings its own ethical and practical challenges, including the issue of which diseases are worth preventing.
Conclusion And Relevance:
A more comprehensive and well-reasoned approach to genetic testing of gamete donors is needed. Otherwise, testing will continue to be haphazard and guided by the free market, rather than deeper societal values.
