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Published on: February 19, 2021
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Reporting Modifications from the IMPACT-FH Study Using the FRAME-IS
Christie Gilbert Klaczko1, Nicole L Walters1, Andrew Brangan1
1Department of Genomic Health, Research Institute, Geisinger, Danville, Pennsylvania, USA.
Public Health Genomics
|April 21, 2025
Summary
Implementing cascade testing for Familial Hypercholesteremia (FH) requires adapting strategies. Reactive modifications to programs and tools like chatbots ensured successful screening for at-risk relatives.
Area of Science:
- Genetics
- Cardiology
- Public Health
Background:
- Familial Hypercholesteremia (FH) is a genetic disorder causing high LDL-cholesterol and severe cardiac risks.
- FH is often undiagnosed, necessitating widespread screening programs.
- Cascade testing is crucial for identifying at-risk relatives of FH patients.
Purpose of the Study:
- To report modifications made to the IMPACT-FH cascade testing program.
- To analyze how implementation strategies were adapted for FH screening.
- To evaluate the role of flexibility in program implementation.
Main Methods:
- The study analyzed modifications within the IMPACT-FH cascade testing program at Geisinger.
- Implementation strategies included informational packets, chatbots, and direct contact.
- The FRAME-IS framework was used to code modifications (nature, goal, timing, impact).
Main Results:
- Eleven unplanned, reactive modifications were made during the implementation phase.
- Changes optimized the program and strategies for FH families.
- Modifications targeted the overall program (n=3), chatbot strategy (n=3), and direct contact (n=5).
Conclusions:
- Flexibility and reactive modifications were essential for successful cascade testing implementation.
- Adapting strategies enhances the effectiveness of FH screening programs.
- The IMPACT-FH trial demonstrated the value of adaptable implementation in pragmatic research.

