Communication of positive newborn screening results for sickle cell disease and sickle cell trait: Variation across states

Abstract

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.

Population Screening for Genetic Disorders in the 21st Century: Evidence, Economics, and Ethics

“…The Health Council of the Netherlands argues that the interest of the family should serve as the ethical ground for disclosure of carrier status as an incidental finding [2,84]. In the United States, newborn screening programs routinely disclose carrier information to either physicians or families but without consistency in the reporting of information or the provision of genetic counseling [70,89,90,91,92]. Not surprisingly, the implications of carrier status are often not adequately communicated or understood by families [93,94,95].…”

Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice

“…57 Research with parents following newborn screening supports disclosure of newborn carrier status. 13,15,[57][58][59][60] However, there is commonly inconsistency in whether specific communication protocols are in place for SC or CF carrier results, 37,[61][62][63] and further research is required into parents' experiences or understanding of such communication 13 and the most effective and acceptable communication models. 8 There remains little guidance on the most appropriate ways to convey carrier status results, 8,41 or research on parents' experiences of receiving carrier results to inform approaches.…”

Consent for Newborn Screening: The Attitudes of Health Care Providers

“…Indeed, evaluative exercises in the UK and US have generated profoundly different recommendations regarding the appropriate scope of infant screening [15,16]. Further, many jurisdictions automatically disclose incidental results that were not the intended target of screening, such as sickle cell carrier status, without explicit parental consent [17,18]. These practices and future developments position NBS as offering a ‘public health service’ that parents may or may not value [4].…”