How Can Implementation Science Improve the Care of Familial Hypercholesterolaemia?

Abstract

Purpose of Review Describe the application of implementation science to improve the detection and management of familial hypercholesterolaemia. Recent Findings Gaps between evidence and practice, such as underutilization of genetic testing, family cascade testing, failure to achieve LDL-cholesterol goals and low levels of knowledge and awareness, have been identified through clinical registry analyses and clinician surveys. Implementation science theories, models and frameworks have been applied to assess barriers and enablers in the literature specific to local contextual factors (e.g. stages of life). The effect of implementation strategies to overcome these factors has been evaluated; for example, automated identification of individuals with FH or training and education to improve statin adherence. Clinical registries were identified as a key infrastructure to monitor, evaluate and sustain improvements in care. Summary The expansion in evidence supporting the care of familial hypercholesterolaemia requires a similar expansion of efforts to translate new knowledge into clinical practice.

Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol

“…By interviewing patients and providers, we are addressing this important element by understanding, from the perspective of the end user, why the primary-tertiary shared care model may or may not be successful. Despite the strong evidence base behind FH care, efforts to translate guidelines into practice are often unsuccessful, likely related to a lack of relevant or appropriate implementation strategies 17 31. The design of this study protocol has taken into consideration previously identified barriers and enablers by this research group allowing for the selection of appropriate implementation strategies tailored to local needs 13.…”

“…It is important to develop implementation strategies to effectively create and operationalise new models of care for the translation of FH clinical practice guidelines into practical application 17. Furthermore, models of care should be adaptable to suit local needs and be acceptable to patient and provider 5 18.…”

“…Implementation science is the study of methods to improve the systematic update of evidence-based guidelines into routine practice and is an essential approach to implementing FH models of care 8 19. There is a clear gap between evidence and practice in the identification and management of FH, including the underutilisation of genetic testing and family cascade testing 17. Barriers include a lack of awareness and understanding of FH among many healthcare providers including cardiologists and GPs 20.…”

Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases

“…Adopting implementation science frameworks and practices may also facilitate the uptake of guideline-directed genetic testing. Proposed implementation science strategies include leadership engagement, attention to the structure and clarity of guidelines, and the creation of clinical resources to support implementation of recommendations ( 54 – 56 ).…”

Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial

“…Notably, several drivers of this ‘know-do’ gap have been identified and can inform efforts to promote cascade screening. These include costs and insurance coverage for screening; probands or relatives having concerns related to privacy and discrimination, limited knowledge of FH, or low health literacy; challenging family relationships; clinicians lacking awareness or perceiving FH as low urgency; competing demands on clinicians’ time; and challenges with collaboration among clinicians [ 43 , 44 ].…”