Development of an implementation framework for overcoming underdiagnoses of familial hypercholesterolemia in the USA

Dana M. Miller, Amy Gaviglio, Heather A. Zierhut

Research output: Contribution to journalArticlepeer-review


Familial hypercholesterolemia (FH) is a genetic condition which causes elevated low-density lipoprotein cholesterol from birth. With a prevalence of 1 in 250 and the availability of effective treatments, the diagnostic rate of <1 to 10% is unacceptably low. Screening for FH is supported by multiple organizations, but it has not been broadly adopted and implemented across the USA. To investigate the implementation of FH screening, key informants were recruited from across the USA for their expertise in FH-related literature, guidelines, public health, and/or advocacy to complete -semistructured interviews guided by implementation science (RE-AIM framework). Sixteen semistructured interviews were analyzed with directed content and thematic analyses, yielding specific barriers and recommendations to improve FH screening. Barriers to FH screening included patient recruitment and participation, equitable access to healthcare, provider discomfort with screening and treating FH, provider burden, lack of public health and legislative support, FH awareness, guideline complexity, facilitation of genetic testing and cascade screening, and lack of coordination between stakeholders. Awareness, engagement, communication, and collaboration between stakeholders is integral to successful FH screening. Individualized plans will be required at national, regional, and institutional levels. FH screening implementation can be achieved through practice facilitation, streamlined screening approaches, electric medical record tools, and consensus guidelines to increase screening adoption and consistent delivery. Reliable funding and established lines of communication between stakeholders can maintain efforts as FH screening progresses.

Original languageEnglish (US)
Pages (from-to)110-122
Number of pages13
JournalPublic Health Genomics
Issue number3-4
StatePublished - Aug 1 2021

Bibliographical note

Funding Information:
There was general agreement between KIs in methodology and intervention agents. With the addition of genetic testing and cascade screening, suspected cases of FH can be clarified and family members identified [, ]. Genetic testing has been shown to be effective in employing cascade screening and has been supported by multiple organizations including the FH Foundation and the National Lipid Association [, , ]. With wide support for cascade screening across KIs, the lack of provider awareness and comfort with genetic testing may be improved by genetics outreach around clinical utility of genetic testing, family dynamics and geographic dispersion, healthcare literacy, privacy concerns, cost and insurance coverage, and access to care [, ].

Publisher Copyright:
© 2021 S. Karger AG, Basel. Copyright: All rights reserved.


  • Familial hypercholesterolemia
  • Genetic screening
  • Healthcare services
  • Implementation science
  • Public health
  • Public health genetics
  • Public health genomics


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