Faculty of Medicine, Department of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Eur J Hum Genet. 2010 Mar;18(3):303-8. doi: 10.1038/ejhg.2009.173. Epub 2009 Oct 7.
The expansion of newborn screening (NBS) is increasing the generation of incidental results, notably carrier results. Although carrier status is generally understood to be clinically benign, concerns persist that parents may misunderstand its meaning, with deleterious effects on children and their families. Expansion of the NBS panel in Ontario, Canada in 2006 to include sickle cell disorders drew attention to the policy challenge of incidental carrier results. We conducted a study of consumer and provider attitudes to inform policy on disclosure. In this paper, we report the results of (i) qualitative interviews with health-care providers, advocates and parents of carrier infants and (ii) focus groups with new parents and individuals active with the sickle cell community. Lay and provider participants generally believed that carrier results were clinically insignificant. However, some uncertainty persisted among lay consumers in the form of conjecture or doubt. In addition, consumers and advocates who were most informed about the disease articulated insistent yet dissonant claims of clinical significance. Meanwhile, providers referenced research knowledge to offer an equivocal assessment of the possibility and significance of clinically symptomatic carrier status. We conclude that many interpretations of carrier status are in circulation, failing to fit neatly into the categories of 'clinically significant' or 'benign.' This creates challenges for communicating clearly with parents - challenges exacerbated by inconsistent messages from screening programs regarding the significance of sickle cell carrier status. Disclosure policy related to incidentally generated infant carrier results needs to account for these complex realities.
新生儿筛查（NBS）的扩展增加了偶然结果的产生，特别是携带者结果。尽管携带者状态通常被认为是临床良性的，但人们仍然担心父母可能会误解其含义，从而对孩子及其家庭产生不利影响。2006 年，加拿大安大略省 NBS 小组的扩大，将镰状细胞疾病纳入其中，这引起了人们对偶然携带者结果的政策挑战的关注。我们进行了一项针对消费者和提供者态度的研究，为披露政策提供信息。在本文中，我们报告了（i）与携带者婴儿的医疗保健提供者、倡导者和父母进行的定性访谈，以及（ii）与新父母和镰状细胞社区的活跃成员进行的焦点小组的结果。外行和提供者参与者普遍认为携带者结果在临床上没有意义。然而，一些外行消费者仍然存在一些不确定性，表现为猜测或怀疑。此外，对该疾病了解最多的消费者和倡导者表达了坚持但不和谐的临床意义的主张。与此同时，提供者参考研究知识，对可能出现和具有临床症状的携带者状态的可能性和意义做出了模棱两可的评估。我们得出结论，携带者状态的许多解释正在流传，无法整齐地归入“临床显著”或“良性”的类别。这给与父母进行清晰沟通带来了挑战——筛查计划关于镰状细胞携带者状态意义的不一致信息加剧了这些挑战。与偶然产生的婴儿携带者结果相关的披露政策需要考虑到这些复杂的现实。
