Implementation of genetic testing for heritable cardiac conditions: A scoping review

Figures

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  Figure 1. PRISMA diagram. The chart illustrates the identification, screening, evaluation, and selection of articles for the scoping review. The diagram illustrates the number of studies that were considered during each step of the process. PRISMA, Preferred Reporting Items for Systematic Reviews and Meta-Analyses.

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  Figure 2. Representation of cardiogenetic conditions in the selected literature. The selected articles cover the following specialties: familial hypercholesterolemia (FH; n = 10), cardiovascular pharmacogenomics (CVPGx; n = 10), cardiomyopathy/arrhythmia (CM/ARRH; n = 5), congenital heart disease (CHD; n = 1), and other (n = 6).

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  Figure 3. Year of publication of the selected literature. Specialties covered are illustrated in stacked bars. The reviewed literature spans 18 years (2005-2023). Most articles were published after 2018, a period coinciding with the emergence of the CVPGx literature. CHD, congenital heart disease; CM/ARRH, cardiomyopathy/arrhythmia; CVPGx, cardiovascular pharmacogenomics; FH, familial hypercholesterolemia.

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  Figure 4. Geographical representation of the selected literature. Specialties covered are illustrated in stacked bars. Reported author affiliations are shown in alphabetical order. The majority of the selected literature originated from the United States. CHD, congenital heart disease; CM, cardiomyopathy; CVPGx, cardiovascular pharmacogenomics; FH, familial hypercholesterolemia.

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  Figure 5. Stakeholder network analysis. The number of articles per stakeholder type is shown inside each node. The physicians group includes representation from cardiology, sports medicine, lipids specialty, physician trainees, and other clinicians, including 1 count of a stakeholder denominated as “direct health care” in Miller et al.77 The allied health professionals group includes pharmacists, genetic counselors, and nurses. The node size approximates the number of paths connecting each stakeholder type in the literature. Solid arrows represent relationships found in the reviewed literature. Dashed arrows represent relationships that should be prioritized in future research. Cost and reimbursement were recurring barriers reported in this review. It is inferred that payers are part of the system; however, the reviewed literature did not include the payer perspective. Superscripts indicate the citation validating the stakeholder involvement in the system (see References).51,54, 55, 56, 57, 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, 76, 77, 78, 79, 80, 81,83