Hastings Cent Rep. 2018 Jul;48 Suppl 2:S29-S31. doi: 10.1002/hast.881.
Debates about expanding newborn screening with whole genome sequencing are fueled by data about public perception, public opinion, and the positions taken by public advocates and advocacy groups. One form of evidence that merits attention as we consider possible uses of whole-genome sequencing during the newborn period is parents' (and children's) diverse experiences with existing expanded screening protocols. What do we know about this experience base? And what implications might these data have for decisions about how we use whole genome sequencing and how we assess its impact in the future? Although the broader literature on genetic susceptibility testing suggests that testing usually does not have adverse effects on children's psychosocial well-being, certain newborn screening results have been demonstrated to cause distress, alter behavior, and even to influence the formation of new parental and family identities.
关于扩大新生儿筛查范围以进行全基因组测序的争论，受到公众认知、公众意见以及公众倡导者和宣传团体所采取立场的数据的推动。在考虑在新生儿期使用全基因组测序的可能用途时，值得关注的一种证据形式是父母（和孩子）对现有扩展筛查方案的不同体验。我们对这个经验基础了解多少？这些数据对我们如何使用全基因组测序以及如何评估其未来影响的决策有哪些影响？尽管关于遗传易感性测试的更广泛文献表明，测试通常不会对儿童的社会心理幸福感产生不利影响，但某些新生儿筛查结果已被证明会引起困扰、改变行为，甚至影响新的父母和家庭身份的形成。
