Abstract
Introduction Familial Hypercholesteremia (FH), a genetic condition that causes life-long 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. Methods Here 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 result 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 the FRAME-IS to code the nature, goal, timing, and impact of the changes on the program. Results In 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. Conclusions Flexibility and reactive modifications played a key role in successful implementation of the cascade testing program within the IMPACT-FH pragmatic research trial.
