Newborn screening (NBS) for sickle cell disease (SCD) has significantly improved childhood survival. However, gaps remain in implementation of follow-up after NBS as demonstrated by poor implementation of penicillin prophylaxis[1] and stroke risk screening.[2] It is unknown if initial engagement between healthcare providers and parents of affected children impact follow-up with SCD providers. In addition, states may have varying ways of informing families of diagnosis and ensuring follow-up care. This qualitative study examined the NBS process for SCD and subsequent access and referral to specialty care. Information was collected from a large, geographically diverse sample of healthcare providers as part of the Dissemination and Implementation of Stroke Prevention Looking at the Care Environment (DISPLACE) study. DISPLACE is an NHLBI-funded study designed to evaluate and improve stroke prevention practices in children with sickle cell anemia.[2]


Semi-structured interviews were conducted with 25 healthcare providers of pediatric patients with SCD. Interviews were conducted in person or by phone by a PhD-prepared nurse and a PhD-prepared psychologist with extensive research and clinical experience with SCD, including qualitative data collection and analysis. Questions were designed to determine barriers and facilitators to accessing appropriate stroke prevention practices in SCD, but responses revealed information more broadly about the NBS process and subsequent access to specialty care.


Provider participants were a mean 50 years of age, 56% female, and 80% White. Most were physicians (76%), with a subset of advanced practice providers (8%) or other healthcare professionals (12%). Most were Hematologists/Oncologists or sickle-cell specialists (84%), and the remainder were general pediatric providers (16%). Providers practiced in 16 states across the U.S.

Process NBS processes varied substantially across states. Most often, NBS results are sent to the pediatrician of record; in a few states, results are also sent to a SCD specialty clinic, a NBS coordinator, and/or the family. Despite results often being sent to the pediatrician, in several states, responsibility for ensuring children are seen for follow-up of NBS results lies on the SCD clinic. Provider participants in 6 states described a coordinator who provides services, including tracking children with positive screens, facilitating referrals, collecting outcomes data, and providing education to families. Providers in 3 states (18.8%) described an auditing process by which data on confirmatory (SCD) diagnosis, appointment attendance, and prophylactic penicillin initiation are collected to ensure appropriate follow-up care. Processes by which confirmatory diagnoses are reported back to the health department for tracking purposes (without quality assessment) were described in a few states.

Challenges Providers in 9 states did not report challenges to NBS processes. In the remaining 7 states, key challenges included family and systems barriers. Family barriers (5 states) included insurance, transportation, and scheduling (2 states), difficulties contacting families, and "no shows" or appointment delays (5 states). Systems challenges included "clunky" system that uses outdated communication methods and is inundated with referrals (1 state), and lack of communication between centers in proximity regarding which will follow the child (1 state). Additional systems barriers (4 states) included inaccurate follow-up information (newborn sees different pediatrician than recorded at birth), poor communication (between sickle cell clinic and health department), or delays in information transmission (delay in confirmatory diagnosis and referral from pediatrician).


Results of interviews with healthcare providers in the DISPLACE study suggest significant variation in initial reporting of NBS results to families, establishing care with the SCD clinic, and variability in follow-up evaluation and monitoring, with few centers reporting an established quality assessment plan. Despite the overall success of the NBS program for SCD, important changes are needed including standardized NBS practices, protocols for notifying families of diagnosis, and NBS follow-up programs that perform quality assurance and assure adherence to SCD guidelines.

Kanter:GLG: Consultancy; Fulcrum Tx: Consultancy; Forma: Consultancy, Membership on an entity's Board of Directors or advisory committees; University of Alabama Birmingham: Current Employment; Novartis: Consultancy, Honoraria; Ecor1: Honoraria; Guidepoint Global: Honoraria; Beam: Honoraria; Graphite Bio: Consultancy; ORIC: Consultancy; Bausch: Consultancy, Honoraria.

Author notes


Asterisk with author names denotes non-ASH members.

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