Abstract
The South Carolina cystic fibrosis (CF) newborn screening (NBS) program changed in 2019 to include CFTR genotyping for babies with top 4% immunoreactive trypsinogen, which improves sensitivity and timeliness but increases carrier detection. Carrier identification has genetic implications for the family and parents of NBS+ babies have increased emotional distress. Genetic counseling (GC) may increase parent understanding and reduce anxiety yet is not uniformly offered at CF centers. We report our early results after implementing GC for NBS+ families at the time of sweat chloride testing based on GC availability, which resulted in an unselected GC− control arm. Sixteen mothers (GC+ = 9, GC− = 7) participated in an online survey about their experience. Responses were analyzed in aggregate and for differences between GC+ and GC− groups. All-respondent sadness and anxiety increased with notification of the NBS+ result and decreased after sweat test results. Anxiety and sadness were greater in GC− compared to GC+ until after the diagnosis was resolved, though emotional differences between the groups were not statistically significant. On a scale of 0 = not at all to 10 = extremely, GC was rated very helpful (mean 9.0, range 5–10), informative (mean 8.9, range 4–10), comforting (mean 9.1, range 6–10), and minimally distracting (mean 1.8, range 0–9). All participants correctly identified that a risk for a child to have CF exists when both parents are (at least) carriers. Delivery of NBS results to respondents varied by timing, informant, and information given. The child’s pediatrician notified 10 (62.5%) of the NBS+ result. Parents felt they were notified in a timely manner (68.8%), by someone knowledgeable about NBS (62.5%), the sweat test (62.5%), CF (43.8%), and genetics (43.8%) and who cared about them (81.3%). Parents felt worried (81.3%), confused (81.3%), empowered (25%), and other (sad, shocked, scared, overwhelmed, devastated, defeated). Data from this single-center study suggest benefit of GC, that families would value earlier contact with an expert, and that prompt diagnostic resolution may reduce duration of parental distress.
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Data Availability
The data that support the findings of this study are available from the corresponding author, KF, upon reasonable request.
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10 September 2023
The supplementary file of the article contained some track changes. This has been replaced with a clean version.
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All authors contributed to conceptualization. K.F., J.D., and S.S. contributed to data curation. All authors contributed to investigation, methodology, and project administration. K.F., L.C., P.F., and S.S contributed to formal analysis. K.F. wrote the original draft. L.C., P.F., and S.S. contributed to editing. All authors reviewed the manuscript.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Approval to conduct this human subject research was obtained by the Medical University of South Carolina institutional review board.
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Foil, K., Christon, L., Kerrigan, C. et al. Experiences of cystic fibrosis newborn screening and genetic counseling. J Community Genet 14, 621–626 (2023). https://doi.org/10.1007/s12687-023-00666-8
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DOI: https://doi.org/10.1007/s12687-023-00666-8