ArticlePublic health genomics2025
Reporting Modifications from the IMPACT-FH Study Using the FRAME-IS.
Article in Public health genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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8 authors.
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Abstract
introductionFamilial hypercholesterolemia (FH), a genetic condition that causes lifelong exposure to elevated LDL-cholesterol, can lead to severe life-threatening cardiac outcomes if untreated. Often undiagnosed, widespread implementation of FH screening programs is needed. The IMPACT-FH pragmatic research trial developed and tested a cascade testing program, which included three implementation strategies. Implementation strategies require modification across geographic locations and institutions.
methodsHere we report the modifications made throughout the IMPACT-FH cascade testing program for at-risk relatives of patients with FH from Geisinger's MyCode Community Health Initiative (MyCode®) and MyCode Genomic Screening and Counseling Program. The program was introduced to FH probands upon return of their genetically confirmed FH results from MyCode. The implementation strategies employed included an informational packet, chatbots, and direct contact. Modifications to the IMPACT-FH cascade testing program (intervention) and its implementation strategies were extracted from meeting recordings and interviews. We used FRAME-IS to code the nature, goal, timing, and impact of the changes on the program.
resultsIn total, eleven modifications were made. All modifications were initiated during the implementation phase of the study, were unplanned/reactive, and were made to optimize the fit of the program and strategies for FH probands and their families. Modifications were made to the overall IMPACT-FH cascade testing program (n = 3), the chatbot strategies (n = 3), and the direct contact strategy (n = 5). No modifications were made to the informational packet strategy.
conclusionsFlexibility and reactive modifications played a key role in the successful implementation of the cascade testing program within the IMPACT-FH pragmatic research trial.
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