Abstract
Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA. Primary care providers are well-positioned to identify FH cases; however, universal FH screening is not routinely implemented in practice. The aim of the present study was to identify perceived barriers to FH screening among primary care physicians in Minnesota. A questionnaire assessed FH screening practices, knowledge, and perceived barriers to FH screening. The questionnaire, sent electronically to internal and family medicine physicians in Minnesota (N = 1932) yielded a conservative estimated response rate of 9% (N = 173). Although 92% of participants reported themselves responsible for identifying individuals with FH, 30% did not routinely perform screening in practice. Only 50% of participants were able to correctly identify the risk of FH to first-degree relatives of individuals with FH. Challenges incorporating lipid and family history data was the most frequently endorsed barrier to FH screening (34%). A majority of participants endorsed a clinical decision support system that flags individuals at high risk for FH (62%) and an algorithm with cholesterol levels and lipid disorders (56%) as means of facilitating FH screening. Although the generalizability of the findings is unknown, the results underscore the need for increased provider education regarding FH and suggest an FH screening strategy incorporating a clinical decision support system, screening algorithm, and support from other healthcare providers.
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All authors declare no conflicts of interest specifically related to content in this manuscript. The following unrelated relationships are disclosed for transparency. Heather Zierhut is a Senior Advisor for GeneMatters, LLC (telegenetics genetic counseling company). Pat McCarthy Veach received royalties for books co-authored—Springer Publishing Co. (1 book); Wiley (1 book); and Oxford (1 book). Daniel Duprez has served as a consultant for Amgen and Ackea and received grants from Pfizer, Sanofi, Regeneron, and Astra-Zeneca.
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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 participants for being included in the study. This article does not contain animal subjects.
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Zimmerman, J., Duprez, D., Veach, P.M. et al. Barriers to the identification of familial hypercholesterolemia among primary care providers. J Community Genet 10, 229–236 (2019). https://doi.org/10.1007/s12687-018-0383-3
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DOI: https://doi.org/10.1007/s12687-018-0383-3