Adherence to clinical follow-up care in patients identified with familial hypercholesterolemia through population genetic screening program
Health Services and Implementation
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Primary Categories:
- Health services and Implementation
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Secondary Categories:
- Health services and Implementation
Introduction:
Familial hypercholesterolemia (FH) is an inherited condition that causes high cholesterol and can lead to premature cardiovascular disease. Classified as a Tier 1 genomic health condition by the Centers for Disease Control and Prevention, FH can be effectively managed with evidence-based interventions when diagnosed and treated early. Given more than 80% of FH remains undiagnosed, it is a major health priority to close this care gap at a population level. Endeavor Health previously implemented a population genetic screening program offering population-based GT to adult patients during preventive care visits, including primary care annual visits and routine screening mammogram appointments. This test includes genes associated with inherited cancer, cardiovascular risks, including FH, and pharmacogenomics to enable personalized preventive care. The purpose of this study was to understand the impact of GT results on adherence to clinical follow-up care among patients identified with FH genetic risk variants.
Methods:
Retrospective chart reviews were conducted for patients identified with FH through population-based GT from April 2019 to July 2024 to assess adherence to clinical follow-up care for FH, particularly focusing on lipid level monitoring and the initiation or continuation of lipid-lowering medications, both pre- and post-GT results. Adherence was defined as documented lipid levels on patient electronic health records and active prescription or clinician notes confirming compliance with statins and/or PCSK9 inhibitors. Descriptive statistics were used to summarize patient characteristics and adherence uptake.
Results:
From a cohort of 31,735 patients who completed population-based GT at Endeavor, 143 patients (0.4%) were identified with a pathogenic or likely pathogenic (P/LP) variant in a FH-associated gene. This included 95 patients (66%) with a P/LP variant in LDLR, 42 (29%) in APOB, 5 (4%) in PCSK9, and 1 (1%) with variants in both LDLR and APOB genes. Of the 143 patients, 138 (96%) had lipid levels monitored prior to GT, 4 (3%) had lipid evaluations only after GT results, and 1 (1%) had no lipid monitoring before or after GT. A total of 67 patients (47%) were already adhering to statin therapy and 11 (8%) were receiving both statins and PCSK9 inhibitors prior to GT based on a clinical diagnosis of hypercholesterolemia. Notably, 16 patients (11%) initiated statin therapy and 1 (1%) began PCSK9 inhibitors alone following GT results. There was no documentation of statin or PCSK9 inhibitor initiation before or after GT for 48 patients (33%). This included all 12 patients (8%) who were noted to have an APOB variant associated with hypobetalipoproteinemia rather than FH. Among the remaining 36 patients who did not initiate treatment, 11 (30%) had documentation of a discussion regarding the recommendation to start cholesterol-lowering medications based on their GT results.
Conclusion:
Population-based GT effectively identified patients with FH and facilitated initiation of lipid-lowering medications in patients who were previously untreated. While most patients were already engaged in lipid monitoring, GT results added value in activating patient-provider discussions on treatment recommendations and additional preventive care. However, gaps in patient adherence to statins and other lipid-lowering medications remain, indicating the need for improved follow-up strategies to ensure that patients identified with FH receive appropriate treatment and follow-up care. In addition, the identification of 12 patients with APOB variants linked to hypobetalipoproteinemia highlights the need for improved methods and solutions to accurately differentiate between APOB variants associated with hypobetalipoproteinemia and those linked to FH, as their management recommendations differ significantly. These findings show the potential of population-based GT to improve FH management while also emphasizing the need of future research to optimize provider and patient engagement in FH management, and evaluate the impact of GT results on patient outcomes.
Familial hypercholesterolemia (FH) is an inherited condition that causes high cholesterol and can lead to premature cardiovascular disease. Classified as a Tier 1 genomic health condition by the Centers for Disease Control and Prevention, FH can be effectively managed with evidence-based interventions when diagnosed and treated early. Given more than 80% of FH remains undiagnosed, it is a major health priority to close this care gap at a population level. Endeavor Health previously implemented a population genetic screening program offering population-based GT to adult patients during preventive care visits, including primary care annual visits and routine screening mammogram appointments. This test includes genes associated with inherited cancer, cardiovascular risks, including FH, and pharmacogenomics to enable personalized preventive care. The purpose of this study was to understand the impact of GT results on adherence to clinical follow-up care among patients identified with FH genetic risk variants.
Methods:
Retrospective chart reviews were conducted for patients identified with FH through population-based GT from April 2019 to July 2024 to assess adherence to clinical follow-up care for FH, particularly focusing on lipid level monitoring and the initiation or continuation of lipid-lowering medications, both pre- and post-GT results. Adherence was defined as documented lipid levels on patient electronic health records and active prescription or clinician notes confirming compliance with statins and/or PCSK9 inhibitors. Descriptive statistics were used to summarize patient characteristics and adherence uptake.
Results:
From a cohort of 31,735 patients who completed population-based GT at Endeavor, 143 patients (0.4%) were identified with a pathogenic or likely pathogenic (P/LP) variant in a FH-associated gene. This included 95 patients (66%) with a P/LP variant in LDLR, 42 (29%) in APOB, 5 (4%) in PCSK9, and 1 (1%) with variants in both LDLR and APOB genes. Of the 143 patients, 138 (96%) had lipid levels monitored prior to GT, 4 (3%) had lipid evaluations only after GT results, and 1 (1%) had no lipid monitoring before or after GT. A total of 67 patients (47%) were already adhering to statin therapy and 11 (8%) were receiving both statins and PCSK9 inhibitors prior to GT based on a clinical diagnosis of hypercholesterolemia. Notably, 16 patients (11%) initiated statin therapy and 1 (1%) began PCSK9 inhibitors alone following GT results. There was no documentation of statin or PCSK9 inhibitor initiation before or after GT for 48 patients (33%). This included all 12 patients (8%) who were noted to have an APOB variant associated with hypobetalipoproteinemia rather than FH. Among the remaining 36 patients who did not initiate treatment, 11 (30%) had documentation of a discussion regarding the recommendation to start cholesterol-lowering medications based on their GT results.
Conclusion:
Population-based GT effectively identified patients with FH and facilitated initiation of lipid-lowering medications in patients who were previously untreated. While most patients were already engaged in lipid monitoring, GT results added value in activating patient-provider discussions on treatment recommendations and additional preventive care. However, gaps in patient adherence to statins and other lipid-lowering medications remain, indicating the need for improved follow-up strategies to ensure that patients identified with FH receive appropriate treatment and follow-up care. In addition, the identification of 12 patients with APOB variants linked to hypobetalipoproteinemia highlights the need for improved methods and solutions to accurately differentiate between APOB variants associated with hypobetalipoproteinemia and those linked to FH, as their management recommendations differ significantly. These findings show the potential of population-based GT to improve FH management while also emphasizing the need of future research to optimize provider and patient engagement in FH management, and evaluate the impact of GT results on patient outcomes.