Application of Single-Nucleotide Polymorphism-Related Risk Estimates in Identification of Increased Genetic Susceptibility to Cardiovascular Diseases: A Literature Review.

Background: Although largely preventable, cardiovascular diseases (CVDs) are the biggest cause of death worldwide. Common complex cardiovascular disorders (e.g., coronary heart disease, hypertonia, or thrombophilia) result from a combination of genetic alterations and environmental factors. Recent advances in the genomics of CVDs have fostered huge expectations about future use of susceptibility variants for prevention, diagnosis, and treatment. Our aim was to summarize the latest developments in the field from a public health perspective focusing on the applicability of data on single-nucleotide polymorphisms (SNPs), through a systematic review of studies from the last decade on genetic risk estimating for common CVDs.

Methods: Several keywords were used for searching the PubMed, Embase, CINAHL, and Web of Science databases. Recent advances were summarized and structured according to the main public health domains (prevention, early detection, and treatment) using a framework suggested recently for translational research. This framework includes four recommended phases: "T1. From gene discovery to candidate health applications; T2. From health application to evidence-based practice guidelines; T3. From evidence-based practice guidelines to health practice; and T4. From practice to population health impacts."

Results: The majority of translation research belongs to the T1 phase "translation of basic genetic/genomic research into health application"; there are only a few population-based impacts estimated. The studies suggest that an SNP is a poor estimator of individual risk, whereas an individual's genetic profile combined with non-genetic risk factors may better predict CVD risk among certain patient subgroups. Further research is needed to validate whether these genomic profiles can prospectively identify individuals at risk to develop CVDs. Several research gaps were identified: little information is available on studies suggesting "Health application to evidence-based practice guidelines"; no study is available on "Guidelines to health practice." It was not possible to identify studies that incorporate environmental or lifestyle factors in the risk estimation.

Conclusion: Currently, identifying populations having a larger risk of developing common CVDs may result in personalized prevention programs by reducing people's risk of onset or disease progression. However, limited evidence is available on the application of genomic results in health and public health practice.