Variability in Notification of Positive Newborn Screening Results for Sickle Cell Trait across States in the US

Background: Newborn screening (NBS) for sickle cell disease has been universal in all 50 states since 2006, with the first state having adopted NBS in 1975. While identification of sickle cell trait (SCT) status is not the primary goal of this screening, SCT is unique among carrier states due to its reproductive and clinical implications. However, because SCT is a byproduct of newborn screening rather than a primary goal, funding availability and notification practices differs widely between states. We performed a survey of newborn screening programs in states and US territories to identify differences in SCT notification practices.

Methods: We developed a survey in Qualtrics and delivered it via email to NBS program coordinators in all 50 states, the District of Columbia (DC), and 2 US territories in June 2022. For NBS coordinators who did not complete the survey, a reminder email was sent after 2 weeks followed by a phone call to prompt survey completion.

Results: Completed surveys were received from 34 NBS coordinators representing 34 states and 1 US territory (Puerto Rico). All respondents (100%) agreed that knowledge of SCT status is important for reproductive decision-making. Although a majority (62%, n=21/32) agreed that SCT status is a public health concern for their state, only 11 (32%) agreed that ensuring counseling to SCT carriers is the responsibility of state newborn screening programs, as noted in figure 1.

Notification procedures: All responding NBS coordinators (100%) provide notification of SCT status to either a pediatrician or parent, with 17 (50%) notifying both the parent and pediatrician, 15 (44%) notifying the pediatrician only, and 2 (6%) notifying the parent only. As depicted in Figure 2, parents are most commonly notified by mail only whereas pediatrician notification varies from mail only to fax only to phone call in addition to written notification. More than one-third (36%) of respondents acknowledged that pediatrician information was missing or inaccurate between 25-50% of the time. Of the 18 NBS programs that notify parents, 6 (33%) provide written/online information about SCT only, 4 (22%) provide resources for local genetic counseling centers only, 6 (33%) provide both written information about SCT and resources for local genetic counseling centers, and 2 (11%) report providing results only. Only two NBS centers note running their own SCT counseling programs.

Renotification procedures: No state reported routine renotification of SCT carriers at reproductive age. All states (100%) reported retaining electronic records of SCT status; however, in the majority of states (57%), electronic records are available only after 2000 with the last state adopting electronic records in 2019. NBS electronic records can be accessed directly by pediatricians/primary care doctors in 12/34 (35%) of states; however, no state operates a publicly available database to allow individuals to access their own records.

Conclusion: SCT notification procedures vary widely across states in the US. The majority of states rely on pediatricians to counsel parents and individuals about their SCT status. Although knowledge of SCT status is accepted to be an important factor for reproductive-decision making, renotification and/or efficient access of NBS SCT results at reproductive age is not available in most states.

Miller:American Red Cross: Current Employment. Naik:Elsevier: Consultancy.