Genetic carrier screening for reproductive purposes has existed for half a century. It was originally offered to particular ethnic groups with a higher prevalence of certain severe recessive or X-linked genetic conditions, or (as carrier testing) to those with a family history of a particular genetic condition. Commercial providers are increasingly offering carrier screening on a user-pays basis. Some countries are also trialing or offering public reproductive genetic carrier screening with whole populations, rather than only to those known to have a higher chance of having a child with an inherited genetic condition. Such programs broaden the ethical and practical challenges that arise in clinical carrier testing. In this paper we consider three aspects of selecting genes for population reproductive genetic carrier screening panels that give rise to important ethical considerations: severity, variable penetrance and expressivity, and scalability; we also draw on three exemplar genes to illustrate the ethical issues raised: CFTR, GALT and SERPINA1. We argue that such issues are important to attend to at the point of gene selection for RGCS. These factors warrant a cautious approach to screening panel design, one that takes into account the likely value of the information generated by screening and the feasibility of implementation in large and diverse populations. Given the highly complex and uncertain nature of some genetic variants, careful consideration needs to be given to the balance between delivering potentially burdensome or harmful information, and providing valuable information to inform reproductive decisions.

用于生殖目的的遗传载体筛查已经存在了半个世纪。它最初提供给某些严重隐性或 X 连锁遗传病患病率较高的特定种族群体，或（作为携带者测试）提供给具有特定遗传病家族史的人。商业供应商越来越多地在用户付费的基础上提供运营商筛选服务。一些国家也在试验或提供对整个人群的公共生殖遗传携带者筛查，而不仅仅是那些已知有更高机会生育患有遗传性遗传疾病的孩子的人群。此类计划扩大了临床载体测试中出现的伦理和实践挑战。在本文中，我们考虑了为群体生殖遗传载体筛选小组选择基因的三个方面，这些方面引起了重要的伦理考虑：严重性、可变外显率和表达能力以及可扩展性；我们还利用三个典型基因来说明提出的伦理问题：CFTR、GALT和SERPINA1。我们认为，在 RGCS 的基因选择方面，这些问题很重要。这些因素需要对筛选小组设计采取谨慎的方法，考虑到筛选产生的信息的可能价值以及在大量不同人群中实施的可行性。鉴于某些遗传变异的高度复杂性和不确定性，需要仔细考虑在提供潜在的繁重或有害信息与提供有价值的信息以告知生殖决策之间的平衡。