Kavanagh Patricia L, Wang C Jason, Therrell Bradford L, Sprinz Philippa G, Bauchner Howard
Division of General Pediatrics, Boston University School of Medicine/Boston Medical Center, Boston, MA 02118, USA.
Am J Med Genet C Semin Med Genet. 2008 Feb 15;148C(1):15-22. doi: 10.1002/ajmg.c.30160.
In the US, all states and the District of Columbia have universal newborn screening (NBS) programs for sickle cell disease (SCD), which also identify sickle cell trait (trait). In this project, we surveyed follow-up coordinators, including one in the District of Columbia and two in Georgia, about protocols for stakeholder notification for SCD and trait. The primary outcomes were total number and type of stakeholder informed of a positive screen. We received 52 completed surveys (100% response). Primary care providers (PCPs) (100%), hematologists (81%), hospitals (73%), and families (40%) were the most commonly notified stakeholders of positive SCD screens, while PCPs (88%), hospitals (63%), and families (37%) were most commonly notified for trait. On average, 3.4 stakeholders were notified for a positive screening for SCD, compared to 2.4 stakeholders for sickle cell trait (P < 0.001). In multivariate analyses for SCD, we found a 2.9% increase in stakeholders notified for each additional year of universal screening mandated in a state (95% CI: 1.4-4.4%). For trait, we found an 8.5% increase in stakeholders notified for each additional follow-up staff (95% CI: 1.3-15.7%), and a 1.3% increase for each additional percent of black births in the state (95% CI: 0.1-2.5%). Wide variation exists in stakeholder notification by NBS programs of positive screenings for SCD and trait. This variation may alter the effectiveness of NBS programs by location of birth.
在美国，所有州及哥伦比亚特区都实施针对镰状细胞病（SCD）的新生儿普遍筛查（NBS）项目，该项目也能识别镰状细胞性状（性状）。在本项目中，我们调查了后续协调员，包括哥伦比亚特区的一名以及佐治亚州的两名，了解关于SCD和性状的利益相关者通知协议。主要结果是被告知筛查呈阳性的利益相关者的总数和类型。我们收到了52份完整的调查问卷（回复率100%）。初级保健提供者（PCP）（100%）、血液科医生（81%）、医院（73%）和家庭（40%）是SCD筛查呈阳性时最常被通知的利益相关者，而PCP（88%）、医院（63%）和家庭（37%）是性状筛查呈阳性时最常被通知的对象。平均而言，SCD筛查呈阳性时通知了3.4个利益相关者，而镰状细胞性状筛查呈阳性时通知了2.4个利益相关者（P<0.001）。在SCD的多变量分析中，我们发现一个州每增加一年强制进行普遍筛查，被通知的利益相关者增加2.9%（95%置信区间：1.4 - 4.4%）。对于性状，我们发现每增加一名后续工作人员，被通知的利益相关者增加8.5%（95%置信区间：1.3 - 15.7%），该州黑人出生比例每增加1%，被通知的利益相关者增加1.3%（95%置信区间：0.1 - 2.5%）。NBS项目对SCD和性状筛查呈阳性的利益相关者通知存在很大差异。这种差异可能会因出生地点而改变NBS项目的有效性。
