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

项目摘要 对美国所有新生儿进行的血红蛋白病新生儿筛查（NBS）允许早期挽救生命， 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，NBS包括- 牙齿显示血红蛋白病携带者状态，包括镰状细胞性状（SCT）。这些发现提出了一个 独特的伦理挑战：是否披露新生儿的携带者状态，以及默认情况下， 一位家长。为了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状态）和保留医疗决策的自主权，儿科和遗传学会指南建议- 建议在婴儿期披露和记录NBS SCT携带者结果。尽管这是一种道德规范， 然而，指南与实践之间存在很大的差距：SCT携带者状态在儿科中的记录严重不足。 电子健康记录（EHR）和少数成年人报告知道他们的SCT状态，尽管普遍筛查。 不披露SCT携带者身份会妨碍个人做出知情生育决定的能力。 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SCT引起的日益增多的医疗并发症。我们建议使用实施科学 在美国，近300万SCT携带者，其中大多数是黑人或黑人， 西班牙裔使用定性和定量的混合方法，我们将确定障碍，促进因素， 必要的实施战略，以增加：1）NBS和SCT携带者状态的文件， EHR; 2）在婴儿期向看护者披露结果;以及，3）关于生殖含义的讨论- 青少年SCT携带者。我们将开发和试点测试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。交流 对NBS结果和SCT载体状态进行精心记录和披露对负责人和 SCT患者的伦理护理;将改善健康结果;并将减少护理中的不公平。

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.