Incorporating Genomic Medicine to Improve Risk Stratification in Severe Hypercholesterolemia: Comparing Implementation Outcomes from Two Health Systems
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:
Severe hypercholesterolemia can be categorized into four genomic subtypes: monogenic familial hypercholesterolemia (FH), polygenic hypercholesterolemia, elevated lipoprotein(a) [Lp(a)], and severe hypercholesterolemia in the absence of a known genetic cause. Atherosclerotic cardiovascular disease (ASCVD) risk stratification tools are used by clinicians to estimate a 10-year risk score, but do not presently incorporate genomic results. The implementation of a genomically-informed ASCVD risk stratification tool, highlighting hypercholesterolemia subtypes, could help tailor treatment strategies and reduce the burden of ASCVD morbidity and mortality for this patient population. This study explored clinician experiences related to current practices of testing for, and managing, the four subtypes of severe hypercholesterolemia, and sought clinician input on implementation of a genomically-informed ASCVD risk stratification tool.
Methods:
Clinicians who care for patients with severe hypercholesterolemia were recruited from two healthcare systems, representing diverse patient populations from rural and urban settings. Semi-structured interviews were conducted to elicit responses to hypothetical scenarios involving communication with a patient with each subtype of hypercholesterolemia. They were asked to consider the theoretical implementation of a genomically-informed ASCVD risk stratification tool into their practice. Deductive coding was iteratively completed using an a priori codebook informed by implementation outcomes of acceptability (perception of innovation as agreeable or satisfactory), appropriateness (fit, relevance, or compatibility within a specified context), and adoption (decision, intent, or action to implement). Thematic analysis was applied to these three codes.
Results:
Interviews were completed with 25 clinicians, including 10 primary care providers (PCPs), 8 genetic counselors (GCs), and 7 cardiology specialists (CSs). There was a similar distribution of provider types from each of the two institutions.
Across both systems and all providers, testing for monogenic FH was widely accepted, described as appropriate, and currently adopted as part of clinical care. Providers described polygenic risk scores (PRS) as promising for future implementation, but acceptability was mixed, and many shared concerns about the appropriateness of adopting this new technology since it’s not part of standard care practices. PCPs and GCs shared reservations of adopting Lp(a) into their practice as they were unsure of their role in testing for and managing Lp(a), whereas CSs endorsed Lp(a) as not only acceptable and appropriate but already adopted as part of current practice. Regarding severe hypercholesterolemia in the absence of a known genetic cause, all providers reported discussing multifactorial and familial risk as acceptable and appropriate.
GCs from both institutions were broadly supportive of a genomically-informed ASCVD risk tool. At one system, PCPs and CSs found this tool to be acceptable and supported the appropriateness of adopting it if it was validated. At the other system, most PCPs and CSs thought the tool would be acceptable and appropriate to implement, but there was concern about adoption due to practical considerations such as lack of personnel, concerns of clinician responsibility, or lack of time to implement.
Conclusion:
Clinicians from two different settings (rural and urban; each serving distinct, yet diverse, patient populations) were recruited to explore the implementation climate and readiness for adopting genomically-informed care for severe hypercholesterolemia. Setting alone was not found to drive differences between the two sites. Rather, clinicians at both sites widely agreed on the acceptability, appropriateness, and adoption of genetic testing and patient management in all scenarios. Differences between sites arose when discussing adoption of the genomically-informed ASCVD risk stratification tool, with PCPs and CSs at one site sharing concerns about readiness to adopt such a tool in their clinical context. Future research is needed to explore barriers to adoption of a genomically-informed ASCVD risk tool, to guide implementation of such a tool and improve management of individuals at increased risk.
Severe hypercholesterolemia can be categorized into four genomic subtypes: monogenic familial hypercholesterolemia (FH), polygenic hypercholesterolemia, elevated lipoprotein(a) [Lp(a)], and severe hypercholesterolemia in the absence of a known genetic cause. Atherosclerotic cardiovascular disease (ASCVD) risk stratification tools are used by clinicians to estimate a 10-year risk score, but do not presently incorporate genomic results. The implementation of a genomically-informed ASCVD risk stratification tool, highlighting hypercholesterolemia subtypes, could help tailor treatment strategies and reduce the burden of ASCVD morbidity and mortality for this patient population. This study explored clinician experiences related to current practices of testing for, and managing, the four subtypes of severe hypercholesterolemia, and sought clinician input on implementation of a genomically-informed ASCVD risk stratification tool.
Methods:
Clinicians who care for patients with severe hypercholesterolemia were recruited from two healthcare systems, representing diverse patient populations from rural and urban settings. Semi-structured interviews were conducted to elicit responses to hypothetical scenarios involving communication with a patient with each subtype of hypercholesterolemia. They were asked to consider the theoretical implementation of a genomically-informed ASCVD risk stratification tool into their practice. Deductive coding was iteratively completed using an a priori codebook informed by implementation outcomes of acceptability (perception of innovation as agreeable or satisfactory), appropriateness (fit, relevance, or compatibility within a specified context), and adoption (decision, intent, or action to implement). Thematic analysis was applied to these three codes.
Results:
Interviews were completed with 25 clinicians, including 10 primary care providers (PCPs), 8 genetic counselors (GCs), and 7 cardiology specialists (CSs). There was a similar distribution of provider types from each of the two institutions.
Across both systems and all providers, testing for monogenic FH was widely accepted, described as appropriate, and currently adopted as part of clinical care. Providers described polygenic risk scores (PRS) as promising for future implementation, but acceptability was mixed, and many shared concerns about the appropriateness of adopting this new technology since it’s not part of standard care practices. PCPs and GCs shared reservations of adopting Lp(a) into their practice as they were unsure of their role in testing for and managing Lp(a), whereas CSs endorsed Lp(a) as not only acceptable and appropriate but already adopted as part of current practice. Regarding severe hypercholesterolemia in the absence of a known genetic cause, all providers reported discussing multifactorial and familial risk as acceptable and appropriate.
GCs from both institutions were broadly supportive of a genomically-informed ASCVD risk tool. At one system, PCPs and CSs found this tool to be acceptable and supported the appropriateness of adopting it if it was validated. At the other system, most PCPs and CSs thought the tool would be acceptable and appropriate to implement, but there was concern about adoption due to practical considerations such as lack of personnel, concerns of clinician responsibility, or lack of time to implement.
Conclusion:
Clinicians from two different settings (rural and urban; each serving distinct, yet diverse, patient populations) were recruited to explore the implementation climate and readiness for adopting genomically-informed care for severe hypercholesterolemia. Setting alone was not found to drive differences between the two sites. Rather, clinicians at both sites widely agreed on the acceptability, appropriateness, and adoption of genetic testing and patient management in all scenarios. Differences between sites arose when discussing adoption of the genomically-informed ASCVD risk stratification tool, with PCPs and CSs at one site sharing concerns about readiness to adopt such a tool in their clinical context. Future research is needed to explore barriers to adoption of a genomically-informed ASCVD risk tool, to guide implementation of such a tool and improve management of individuals at increased risk.