New York University Langone Health, Grossman School of Medicine, New York, New York.
New York University Langone Prelude Fertility Center, New York, New York.
Fertil Steril. 2023 Nov;120(5):1042-1047. doi: 10.1016/j.fertnstert.2023.07.028. Epub 2023 Aug 8.
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.
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.
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.
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.
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.
配子供体的基因检测正变得越来越全面，现在通常包括扩展携带者筛查。一些人认为检测已经走得太远，而另一些人则认为检测还不够广泛。批判性地思考配子供体的基因检测应该进行到何种程度，对于确保市场力量不会单独决定检测水平至关重要。
本文旨在突出当前配子供体基因检测方法中的矛盾，并提出我们要么接受预防遗传性疾病患儿出生的价值观，并以合乎逻辑和一致的方式来实现，要么考虑降低配子供体的基因检测水平。
美国食品和药物管理局要求对传染病进行筛查，美国生殖医学协会建议对少数常见的隐性疾病进行筛查。然而，私人供体银行越来越多地进行核型检测和扩展携带者筛查。
我们目前对配子供体基因检测的方法存在 2 个主要不一致之处：（1）如果配子接受者重视遗传信息，为什么检测应该仅限于隐性疾病，而不扩展到显性疾病，甚至多基因风险评分？（2）为什么要求配子供体进行可能不会被配子接受者回报的检测？解决这些不一致需要我们考虑检测配子供体基因的最终目标。我们认为，目前的默认目标是赋予配子接受者权力，而另一个替代且更值得称赞的使命是避免可预防的遗传性疾病在后代中发生。然而，后者带来了自身的伦理和实际挑战，包括值得预防哪些疾病的问题。
需要对配子供体的基因检测采用更全面和合理的方法。否则，检测将继续是随意的，受自由市场驱动，而不是更深层次的社会价值观。
