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Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid
Christina Johnson1, Jinbo Chen2, Mary P McGowan3,4
1Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Implementation Science : IS
|April 9, 2024
Summary
This study compares two strategies to increase cascade screening for Familial Hypercholesterolemia (FH), aiming to improve diagnosis rates in underserved populations. The findings will inform equitable scaling of genetic screening programs.
Area of Science:
- Implementation Science
- Behavioral Economics
- Cardiovascular Genetics
- Health Equity
Background:
- Familial Hypercholesterolemia (FH) is a prevalent, heritable lipid disorder with low diagnosis rates, especially in minoritized groups.
- Family cascade screening, an evidence-based practice, is underutilized, creating a significant gap in care and leading to delayed diagnosis.
- Existing care gaps disproportionately affect Black or African American people, Asian or Asian American people, and women across racial groups.
Purpose of the Study:
- To compare the effectiveness of two patient-facing implementation strategies for increasing cascade screening completion in relatives of individuals with FH.
- To address the underdiagnosis of FH by improving the reach and completion of family cascade screening.
- To center equity in the implementation of cascade screening, ensuring benefits reach diverse and underserved populations.
Main Methods:
- A hybrid effectiveness-implementation type III randomized controlled trial involving 440 individuals with FH (220 per arm).
- Two patient-facing strategies: (a) automated health system-mediated and (b) nonprofit foundation-mediated with care navigator support.
- Primary outcome is reach (proportion of probands with at least one first-degree relative screened); secondary outcomes include number of relatives screened and meeting FH criteria, and proband cholesterol levels. Mixed methods will explore implementation mechanisms and equity.
Main Results:
- This section is not applicable as the abstract describes a trial that is planned or in progress, not one with completed results.
- N/A
- N/A
Conclusions:
- This trial will elucidate effective and equitable implementation strategies for cascade screening in FH, informed by behavioral economics and co-designed with stakeholders.
- Findings will enhance understanding of 'what works, for whom, and why' in implementing FH cascade screening.
- Learnings can guide national scaling of FH cascade screening and inform implementation for other genetic disorders, promoting health equity.
