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Applying implementation science to improve care for familial hypercholesterolemia

CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2022)

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Article Cardiac & Cardiovascular Systems

Feasibility and cost of FH cascade screening in Belgium (BEL-CASCADE) including a novel rapid rule-out strategy

Olivier S. Descamps et al.

Summary: Familial hypercholesterolaemia (FH) is often underdiagnosed globally. A national pilot project in Belgium successfully implemented a cascade screening strategy for FH using collaboration between specialists and nurses, leading to the diagnosis of 127 index patients and 105 of their relatives. Newly developed MEDPED FH cut-offs showed potential for improving sensitivity in detecting FH within families.

ACTA CARDIOLOGICA (2021)

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Article Cardiac & Cardiovascular Systems

Optimising implementation of European guidelines on cardiovascular disease prevention in clinical practice: what is needed?

Izabella Uchmanowicz et al.

Summary: Cardiovascular disease is a preventable condition where practice guidelines play a crucial role. The European Society of Cardiology (ESC) established a prevention implementation committee to facilitate the implementation of the guidelines. The paper discusses potential barriers to implementation and presents new strategies to promote the use of ESC guidelines, aiming to reduce cardiovascular disease morbidity and mortality.

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (2021)

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Article Pharmacology & Pharmacy

Closing the gap: Identification and management of familial hypercholesterolemia in an integrated healthcare delivery system

Richard A. Birnbaum et al.

Summary: A novel approach was developed and evaluated for identifying and managing patients with undiagnosed FH in a large integrated health system, leading to successful diagnosis and treatment of a majority of patients. The method effectively addressed care gaps in providing appropriate lipid-lowering therapy, providing new insights for the diagnosis and management of FH patients.

JOURNAL OF CLINICAL LIPIDOLOGY (2021)

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Article Genetics & Heredity

Implementing genomic screening in diverse populations

Noura S. Abul-Husn et al.

Summary: The pilot genomic screening program found that participants of non-European ancestry showed a higher interest in receiving genomic results for medically actionable conditions. The study indicates that individuals from diverse ethnic backgrounds are interested in receiving genetic results for conditions that can be medically treated, which could help promote the wider implementation of genomic medicine in underrepresented populations.

GENOME MEDICINE (2021)

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Article Medicine, General & Internal

Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data

Fernando Sabatel-Perez et al.

Summary: This study evaluated the diagnostic yield of an active screening for familial hypercholesterolemia index cases (FH-IC) based on centralized analytical data. Results showed that a sequential, active screening strategy increased the diagnostic yield for FH and may facilitate the implementation of FH universal and family-based cascade screening strategies.

JOURNAL OF CLINICAL MEDICINE (2021)

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Article Nursing

Genetics education program to help public health nurses improve their knowledge and enhance communities' genetic literacy: a pilot study

Hiromi Kawasaki et al.

Summary: This study aimed to evaluate the effectiveness of a short-term education program in improving genetic literacy among public health nurses in Japan. The program significantly increased nurses' scores in cognition, affect, and psychomotor characteristics related to genetic knowledge, enhancing their understanding and interest in human genetic disorders and ability to provide genetic consultation.

BMC NURSING (2021)

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Article Cardiac & Cardiovascular Systems

Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan

Lorna Ingoe et al.

Summary: The study validated a nurse-led process using electronic health records to identify individuals at risk of FH for genetic diagnosis in primary care settings. The optimized FH identification pathway successfully identified high-risk FH patients and provided genetic testing for them, leading to better diagnosis and management.

ATHEROSCLEROSIS (2021)

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Article Genetics & Heredity

Development of an Implementation Framework for Overcoming Underdiagnoses of Familial Hypercholesterolemia in the USA

Dana M. Miller et al.

Summary: Barriers to the implementation of familial hypercholesterolemia (FH) screening include patient recruitment and participation, equitable access to healthcare, provider discomfort with screening and treating FH, provider burden, lack of public health and legislative support, FH awareness, guideline complexity, facilitation of genetic testing and cascade screening, and lack of coordination between stakeholders. Awareness, engagement, communication, and collaboration between stakeholders are essential for successful FH screening. Individualized plans at national, regional, and institutional levels are necessary, along with practice facilitation, streamlined screening approaches, electronic medical record tools, and consensus guidelines to increase screening adoption and consistent delivery. Reliable funding and established lines of communication between stakeholders are crucial to maintaining efforts as FH screening progresses.

PUBLIC HEALTH GENOMICS (2021)

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Article Cardiac & Cardiovascular Systems

Perceptions and Barriers on the Use of Proprotein Subtilisin/Kexin Type 9 Inhibitors in Heterozygous Familial Hypercholesterolemia (From a Survey of Primary Care Physicians and Cardiologists)

Nathan D. Wong et al.

Summary: This study examined physician attitudes, use, and barriers for PCSK9i treatment in HeFH patients. Cardiologists were more likely to consider PCSK9i as the most important drug for HeFH patients needing additional LDL-C lowering, but greater physician education and assistance are needed to address the gaps in understanding and treatment regarding PCSK9is.

AMERICAN JOURNAL OF CARDIOLOGY (2021)

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Article Primary Health Care

Implementing Primary Care Mediated Population Genetic Screening Within an Integrated Health System

Sean P. David et al.

Summary: This study highlighted the importance of genetic screenings in preventive healthcare through analyzing the data of PCP participation and patient genetic screening in the DNA10K program. The results showed that over 8% of nearly 10,000 patients had at least one actionable genetic risk variant, with an average age of 49.6 years.

JOURNAL OF THE AMERICAN BOARD OF FAMILY MEDICINE (2021)

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Article Cardiac & Cardiovascular Systems

The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia

Antonio Gallo et al.

Summary: The study demonstrated the additional contribution of coronary artery calcium (CAC) score in improving cardiovascular risk stratification and ASCVD prediction in patients with statin-treated HeFH.

JACC-CARDIOVASCULAR IMAGING (2021)

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Article Health Care Sciences & Services

Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study

Laney K. Jones et al.

Summary: Implementing automated health data screening, chatbots, and direct contact approaches to improve familial hypercholesterolemia (FH) diagnosis and cascade screening was found to be acceptable, appropriate, and feasible according to stakeholders in focus group discussions. Stakeholders also identified potential obstacles, such as lack of familiarity with FH, and proposed solutions to improve systematic uptake of these initiatives.

JOURNAL OF PERSONALIZED MEDICINE (2021)

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Article Cardiac & Cardiovascular Systems

A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model

Mary P. McGowan et al.

Summary: The Dutch cascade screening model for FH has been successful, but its feasibility in the US is uncertain. A proof-of-concept study by the US-based FH Foundation showed that engaging with FH probands and their relatives outside usual healthcare settings can significantly increase screening rates for FH in the US. The study found that only 18% of families had been previously screened, but after engaging with the FH Foundation, 55% of families were willing to participate in cascade screening.

AMERICAN JOURNAL OF PREVENTIVE CARDIOLOGY (2021)

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Article Public, Environmental & Occupational Health

Self-Efficacy, Perceived Barriers to Care, and Health-Promoting Behaviors Among Franco-Americans Across Cardiovascular Risk Factors: A Cross-Sectional Study

Reed Mszar et al.

Summary: Franco-Americans face significant barriers in accessing healthcare services, particularly in terms of self-efficacy and health-promoting behaviors. This highlights the need for targeted public health strategies to raise awareness about FH, especially among high-risk subpopulations with unmet cardiovascular needs.

AMERICAN JOURNAL OF HEALTH PROMOTION (2021)

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Review Psychiatry

Implementation science: What is it and why should I care?

Mark S. Bauer et al.

PSYCHIATRY RESEARCH (2020)

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Article Genetics & Heredity

A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment

Katrina L. Ellis et al.

CLINICAL GENETICS (2020)

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Letter Health Care Sciences & Services

Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices

Joan Neuner et al.

JOURNAL OF GENERAL INTERNAL MEDICINE (2020)

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Article Genetics & Heredity

Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia

Hannah Wand et al.

JOURNAL OF GENETIC COUNSELING (2020)

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Article Cardiac & Cardiovascular Systems

Derivation and validation of SIDIAP-FHP score: A new risk model predicting cardiovascular disease in familial hypercholesterolemia phenotype

Rafel Ramos et al.

ATHEROSCLEROSIS (2020)

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Article Health Care Sciences & Services

The development of a theory informed behaviour change intervention to improve adherence to dietary and physical activity treatment guidelines in individuals with familial hypercholesterolaemia (FH)

F. J. Kinnear et al.

BMC HEALTH SERVICES RESEARCH (2020)

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Article Pharmacology & Pharmacy

Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry

Samuel S. Gidding et al.

JOURNAL OF CLINICAL LIPIDOLOGY (2020)

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Article Cardiac & Cardiovascular Systems

Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning

Ana Pina et al.

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (2020)

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Article Genetics & Heredity

The Provision of Genetic Testing and Related Services in Quebec, Canada

Brigid Unim et al.

FRONTIERS IN GENETICS (2020)

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Article Genetics & Heredity

Perspectives from individuals with familial hypercholesterolemia on direct contact in cascade screening

Rachel Schwiter et al.

JOURNAL OF GENETIC COUNSELING (2020)

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Article Cardiac & Cardiovascular Systems

Electronic health records to facilitate continuous detection of familial hypercholesterolemia

Shari Pepplinkhuizen et al.

ATHEROSCLEROSIS (2020)

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Article Health Care Sciences & Services

An Implementation Science Framework to Develop a Clinical Decision Support Tool for Familial Hypercholesterolemia

Hana Bangash et al.

JOURNAL OF PERSONALIZED MEDICINE (2020)

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Article Biochemistry & Molecular Biology

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

J. J. Grzymski et al.

NATURE MEDICINE (2020)

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Article Multidisciplinary Sciences

Barriers, facilitators, and solutions to familial hypercholesterolemia treatment

Laney K. Jones et al.

PLOS ONE (2020)

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Article Medicine, General & Internal

Reducing cardiovascular disease risk among families with familial hypercholesterolaemia by improving diet and physical activity: a randomised controlled feasibility trial

Fiona Jane Kinnear et al.

BMJ OPEN (2020)

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Article Health Care Sciences & Services

Performance and clinical utility of supervised machine-learning approaches in detecting familial hypercholesterolaemia in primary care

Ralph K. Akyea et al.

NPJ DIGITAL MEDICINE (2020)

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Article Cardiac & Cardiovascular Systems

2019 ESC/EAS guidelines for the management of dyslipidaemias: Lipid modification to reduce cardiovascular risk

Francois Mach et al.

ATHEROSCLEROSIS (2019)

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Editorial Material Cardiac & Cardiovascular Systems

The Agenda for Familial Hypercholesterolemia A Scientific Statement From the American Heart Association

Samuel S. Gidding et al.

CIRCULATION (2015)

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Article Health Care Sciences & Services

A refined compilation of implementation strategies: results from the Expert Recommendations for Implementing Change (ERIC) project

Byron J. Powell et al.

IMPLEMENTATION SCIENCE (2015)

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Article Health Care Sciences & Services

Guidance for conducting systematic scoping reviews

Micah D. J. Peters et al.

INTERNATIONAL JOURNAL OF EVIDENCE-BASED HEALTHCARE (2015)

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Article Health Care Sciences & Services

Implementation strategies: recommendations for specifying and reporting

Enola K. Proctor et al.

IMPLEMENTATION SCIENCE (2013)

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Article Medicine, General & Internal

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

MAW Umans-Eckenhausen et al.

LANCET (2001)

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Article Genetics & Heredity

Clinical outcomes of a genomic screening program for actionable genetic conditions

Adam H. Buchanan et al.

GENETICS IN MEDICINE

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