Abstract
Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA; yet, factors influencing family notification about risk for FH in the US pediatric setting have not been well elucidated. Most previous research on these factors has occurred in adult patient populations in European countries with organized cascade screening programs; therefore, we sought to characterize parent experiences with cascade screening in the US pediatric setting. A quantitative survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic. Participants were also asked if family notification was impacted by intrapersonal, interpersonal, institutional, community, and public policy factors identified previously in other populations. Notification of at least one of the proband’s living grandparents or aunts/uncles was reported by 76% (n = 25/33) and 71% (n = 24/34) of participants, respectively. The most common reason for notification was to protect relatives from heart disease. Two of the most common reasons participants did not notify relatives were a lack of information about FH and concern that the relative would have difficulty understanding the information. Yet, only a minority of participants (39%) accessed institutional resources such as educational materials to share with relatives or assistance drafting a family letter that could address these barriers. Based on the identified barriers and motivators for family communication, we suggest facilitators to improve implementation of cascade screening.
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Acknowledgements
We are grateful for the parents of the children with FH who shared their experiences with us for this research study. This study was conducted by Elisabeth Wurtmann as a part of her training to fulfill a master’s degree requirement.
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This study was funded by University of Minnesota’s internal funding to Heather Zierhut.
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Elisabeth Wurtmann analyzed and interpreted the data and drafted the manuscript. Heather Zierhut and Julia Steinberger conceived, designed, and supervised the research. Heather Zierhut handled funding. Elisabeth Wurtmann and Mindi Kahn acquired the data. Pat McCarthy-Veach contributed to data analysis. All authors provided critical review of the manuscript.
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Elisabeth Wurtmann, Julia Steinberger, Pat McCarthy Veach, Mindi Khan, and Heather Zierhut declare that they have no conflict of interest.
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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 (5). Informed consent was obtained from all patients for being included in the study.
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No animal studies were carried out by the authors for this article.
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Wurtmann, E., Steinberger, J., Veach, P.M. et al. Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center. J Genet Counsel (2018). https://doi.org/10.1007/s10897-018-0290-0
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DOI: https://doi.org/10.1007/s10897-018-0290-0