Barriers to and Facilitators of Implementing Guidelines for Detecting Familial Hypercholesterolaemia in Australia

Sarkies, Mitchell N.; Testa, Luke; Best, Stephanie; Moullin, Joanna C.; Sullivan, David; Bishop, Warrick; Kostner, Karam; Clifton, Peter; Hare, David; Brett, Tom; Hutchinson, Karen; Black, Andrew; Braithwaite, Jeffrey; Nicholls, Stephen J.; Kangaharan, Nadarajah; Pang, Jing; Abhayaratna, Walter; Horton, Ari; Watts, Gerald F.

doi:10.1016/j.hlc.2023.09.012

Cited by 4 publications

(3 citation statements)

References 35 publications

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“…Future studies may apply the present study’s learnings to cascade screening for second-degree relatives. Second, we will not require genetic testing for FH for probands who are enrolled in the trial since genetic screening is not yet standard practice in the USA, not all individuals with FH have an identifiable mutation, and genetic screening may not be acceptable or of interest to some individuals even when it is provided free of charge [ 44 ]. This may make it more difficult to compare our findings to those of other studies that utilize genetic testing in their approach.…”

Section: Discussionmentioning

confidence: 99%

“…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 ].…”

Section: Research-to-practice Gapmentioning

confidence: 99%

“…Although some probands will have had genetic testing to confirm FH status, we will not require this for several reasons: (a) a diagnosis of FH may be based on clinical assessment alone and does not require a genetic test; (b) up to 50% of individuals with clinically diagnosed FH may not have an identifiable genetic variant; and (c) we wish to avoid exclusion of patients who may have reservations about genetic testing even when it is provided free of charge, including minoritized populations [44,82,83]. Furthermore, there are low rates of genetic testing for FH in routine practice; therefore, we have opted to mirror current practice given the pragmatic nature of the study Had a visit with a Penn Preventive Cardiology Program clinician in the prior 5 years (whether or not they are engaged in care at the start of the study)…”

Section: Participantsmentioning

confidence: 99%

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

Johnson,

Chen,

McGowan

et al. 2024

Implementation Sci

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Background Familial hypercholesterolemia (FH) is a heritable disorder affecting 1.3 million individuals in the USA. Eighty percent of people with FH are undiagnosed, particularly minoritized populations including Black or African American people, Asian or Asian American people, and women across racial groups. Family cascade screening is an evidence-based practice that can increase diagnosis and improve health outcomes but is rarely implemented in routine practice, representing an important care gap. In pilot work, we leveraged best practices from behavioral economics and implementation science—including mixed-methods contextual inquiry with clinicians, patients, and health system constituents—to co-design two patient-facing implementation strategies to address this care gap: (a) an automated health system-mediated strategy and (b) a nonprofit foundation-mediated strategy with contact from a foundation-employed care navigator. This trial will test the comparative effectiveness of these strategies on completion of cascade screening for relatives of individuals with FH, centering equitable reach. Methods We will conduct a hybrid effectiveness-implementation type III randomized controlled trial testing the comparative effectiveness of two strategies for implementing cascade screening with 220 individuals with FH (i.e., probands) per arm identified from a large northeastern health system. The primary implementation outcome is reach, or the proportion of probands with at least one first-degree biological relative (parent, sibling, child) in the USA who is screened for FH through the study. Our secondary implementation outcomes include the number of relatives screened and the number of relatives meeting the American Heart Association criteria for FH. Our secondary clinical effectiveness outcome is post-trial proband cholesterol level. We will also use mixed methods to identify implementation strategy mechanisms for implementation strategy effectiveness while centering equity. Discussion We will test two patient-facing implementation strategies harnessing insights from behavioral economics that were developed collaboratively with constituents. This trial will improve our understanding of how to implement evidence-based cascade screening for FH, which implementation strategies work, for whom, and why. Learnings from this trial can be used to equitably scale cascade screening programs for FH nationally and inform cascade screening implementation efforts for other genetic disorders. Trial registration ClinicalTrials.gov, NCT05750667. Registered 15 February 2023—retrospectively registered, https://clinicaltrials.gov/study/NCT05750667.

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Section: Discussionmentioning

confidence: 99%

Section: Research-to-practice Gapmentioning

confidence: 99%

Section: Participantsmentioning

confidence: 99%

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

Johnson,

Chen,

McGowan

et al. 2024

Implementation Sci

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Implementation science and genetic testing for familial hypercholesterolemia

Birkenhead,

Sullivan,

Watts

et al. 2024

Current Opinion in Lipidology

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Purpose of review Familial hypercholesterolemia is a treatable genetic disorder of cholesterol metabolism. Genetic testing is the most specific method for diagnosing familial hypercholesterolemia, but it remains underutilized. Implementation science aims to bridge the gap between evidence and practice and, thereby, support improved familial hypercholesterolemia care. This review presents the current evidence on the use of implementation science to improve the use of genetic testing for familial hypercholesterolemia. Recent findings Recent research has focused on developing implementation strategies to improve the use of genetic testing, particularly cascade testing of at-risk blood relatives of known familial hypercholesterolemia cases. Stakeholder informed strategies aimed at improving communication between families and detection of familial hypercholesterolemia in primary care have been developed and implemented. Findings demonstrate implementation science methods can help remove barriers and improve the uptake of cascade genetic testing. Summary Significant gaps in familial hypercholesterolemia care emphasize the importance of practical and realistic approaches to improve the detection of this preventable cause of premature heart disease, and recent efforts using implementation science have shown some promising results. More implementation science studies are needed that address the considerable gaps in familial hypercholesterolemia care, including the underutilization of genetic testing, so that all individuals receive the best clinical care.

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

Birkenhead,

Sullivan,

Trumble

et al. 2024

BMJ Open

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IntroductionFamilial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder of lipid metabolism and a preventable cause of premature cardiovascular disease. Current detection rates for this highly treatable condition are low. Early detection and management of FH can significantly reduce cardiac morbidity and mortality. This study aims to implement a primary-tertiary shared care model to improve detection rates for FH. The primary objective is to evaluate the implementation of a shared care model and support package for genetic testing of FH. This protocol describes the design and methods used to evaluate the implementation of the shared care model and support package to improve the detection of FH.Methods and analysisThis mixed methods pre-post implementation study design will be used to evaluate increased detection rates for FH in the tertiary and primary care setting. The primary-tertiary shared care model will be implemented at NSW Health Pathology and Sydney Local Health District in NSW, Australia, over a 12-month period. Implementation of the shared care model will be evaluated using a modification of the implementation outcome taxonomy and will focus on the acceptability, evidence of delivery, appropriateness, feasibility, fidelity, implementation cost and timely initiation of the intervention. Quantitative pre-post and qualitative semistructured interview data will be collected. It is anticipated that data relating to at least 62 index patients will be collected over this period and a similar number obtained for the historical group for the quantitative data. We anticipate conducting approximately 20 interviews for the qualitative data.Ethics and disseminationEthical approval has been granted by the ethics review committee (Royal Prince Alfred Hospital Zone) of the Sydney Local Health District (Protocol ID: X23-0239). Findings will be disseminated through peer-reviewed publications, conference presentations and an end-of-study research report to stakeholders.

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Barriers to and Facilitators of Implementing Guidelines for Detecting Familial Hypercholesterolaemia in Australia

Cited by 4 publications

References 35 publications

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

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

Implementation science and genetic testing for familial hypercholesterolemia

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

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