Increasing Documentation and Disclosure of Sickle Cell Trait Carrier Status: An Implementation Science Approach

项目总结 在美国，对所有新生儿进行的血红蛋白病新生儿筛查(NBS)可以早期挽救生命。 ING为患有镰状细胞病(SCD)的婴儿提供医疗护理。由于其检测方法，国家统计局包括 牙齿显示血红蛋白病携带者状态，包括镰状细胞特征(SCT)。这些发现提出了一种 独特的伦理挑战：是否披露新生儿的携带者身份，默认情况下，是否披露 一位家长。为了努力维护新生儿和父母对其医疗数据的权利(即，国家统计局的结果， SCT地位)，并保持在医疗决策方面的自主权，儿科和遗传学会指南记录- 建议披露和记录国家统计局SCT携带者在婴儿期的结果。尽管有这样的道德要求- 存在很大的指南到实践的差距：SCT携带者的状态在儿科医生中被严重低估 电子健康记录(EHR)，尽管普遍进行筛查，但很少有成年人报告知道他们的SCT状态。 未能披露SCT携带者状况阻碍了个人做出知情生殖决定的能力。 此外，缺乏SCT携带者状态的文件阻碍了医生和研究人员的能力 确定由SCT引起的越来越多的医疗并发症。我们建议使用实施科学 为美国近300万SCT携带者弥合这一实践差距的方法，其中大多数是黑人或 西班牙裔。使用定性和定量相结合的方法，我们将确定障碍、促进者和 增加以下方面所需的实施战略：1)记录国家统计局和小规模电信运营商的情况 EHR；2)在婴儿期向照顾者披露结果；以及3)关于生殖影响的讨论- 青少年SCT携带者。我们将开发和试运行SCT文档和披露工具包 供初级保健医生在婴儿期使用，以及供青少年使用的SCT讨论工具包。AC- 整理国家统计局结果和SCT承运人状态的文档和披露对于负责和 对SCT患者的伦理护理；将改善健康结果；将减少护理中的不平等。

PROJECT SUMMARY The hemoglobinopathy newborn screen (NBS) performed on all neonates in the U.S. allows for early life-sav- ing medical care for infants with sickle cell disease (SCD). Because of its detection method, the NBS inci- dentally reveals hemoglobinopathy carrier states including sickle cell trait (SCT). Such findings present a unique ethical challenge: Whether to disclose the newborn’s carrier status and, by default, the carrier status of one parent. In an effort to uphold the rights of the newborn and parent to their medical data (i.e., NBS result, SCT status) and preserve autonomy in medical decision making, pediatric and genetic society guidelines rec- ommend disclosure and documentation of NBS SCT carrier results during infancy. Despite this ethical impera- tive, a large guideline-to-practice gap exists: SCT carrier status is grossly under-documented in the pediatric electronic health record (EHR) and few adults report knowing their SCT status despite universal screening. Failure to disclose SCT carrier status obstructs an individual’s ability to make informed reproductive decisions. Additionally, lack of documentation of SCT carrier status hampers physicians’ and researchers’ abilities to identify the growing list of medical complications attributed to SCT. We propose to use implementation science methods to close this practice gap for the nearly 3 million carriers of SCT in the US, most of whom are Black or Hispanic. Using mixed method qualitative and quantitative methods we will identify the barriers, facilitators, and implementation strategies necessary to increase: 1) the documentation of NBS and SCT carrier status within the EHR; 2) disclosure of results to caregivers during infancy; and, 3) discussions about reproduction implica- tions with adolescent SCT carriers. We will develop and pilot test a SCT Documentation and Disclosure Toolkit for use by primary care physicians during infancy and an SCT Discussion Toolkit for use with adolescents. Ac- curate documentation and disclosure of NBS results and SCT carrier status is critical to the responsible and ethical care of patients with SCT; will improve health outcomes; and will reduce inequities in care.