JMIR Publications

ABSTRACT

Background:

Unlike traditional newborn screening (NBS), which is opt-out, genomic newborn screening (gNBS) research studies allow parents to opt into additional screening and may even allow parents to choose the types of conditions screened. Acceptance of gNBS and the conditions for which parents elect to screen their baby may be influenced by parental demographic factors. Early Check is a consented gNBS research program in North Carolina that offered three screening groups to parents: nearly 200 treatable monogenic conditions, 40 potentially actionable monogenic conditions, and lifetime risk for type 1 diabetes (T1D).

Objective:

We aimed to understand the sociodemographic factors associated with Early Check enrollment, screening group selection, recruitment method, and decisions to decline participation in the study.

Methods:

Newborns were eligible to participate in Early Check if they had standard NBS in North Carolina and were ≤ 31 days old. Recruitment principally occurred via mailed letters and in-person hospital engagement. Parents used a self-directed web-based consent portal to learn about the study and enroll their newborns. Targeted recruitment was used to attempt representative enrollment by self-reported race/ancestry group. We report descriptive statistics on enrollment demographics and assessed the likelihood of consenting and screening group choice based on race/ethnicity, urbanicity, educational attainment, and preferred language. We also assessed the impact of targeted recruitment efforts on enrollment and characteristics and rationale of parents who decline Early Check participation.

Results:

Between September 28, 2023, and December 31, 2024, Early Check enrolled 3,333 newborns. Although a targeted strategy achieved a distribution closer to the population sample, Black and Hispanic participants were underrepresented, and White mothers were overrepresented when compared with state demographic data. Black and Hispanic parents, parents in rural areas, and parents without a college degree, and younger parents were significantly less likely to elect the two more uncertain screening groups: the potentially actionable and T1D risk screening. Letter-based recruitment rates varied, with Asian and White mothers consenting at the highest rates (13.5%). In-person recruitment saw the highest enrollment from multiracial (80%), White (75.3%), and Hispanic (36.2%) and Black mothers (24.6).

Conclusions:

We demonstrate differences in representation and in condition selection based on demographic characteristics. Different recruitment strategies may be more effective for different demographic groups. Although direct outreach and tailored engagement strategies show promise in increasing representation in research, further efforts are needed to promote inclusive participation and address concerns about genomic and T1D risk screening. Clinical Trial: The study was registered on Clinicaltrials.gov (NCT03655223).