Moving Beyond Clinical Risk Scores with a Mobile App for the Genomic Risk of Coronary Artery Disease

Abstract

SUMMARYPrimary prevention of coronary artery disease (CAD) is important for individuals at increased risk, and largely consists of healthy lifestyle modifications and initiation of medications when appropriate – including statins. Defining the inherent risk for any given individual typically relies on traditional risk factors established decades ago by the Framingham Heart Study. Unfortunately, recent studies have indicated that these traditional clinical risk factors systematically overestimate the risk of CAD across all major ancestries. This has increased the number of patients that would be eligible for statin therapy for the primary prevention of CAD but would likely receive little benefit and potentially incur negative consequences. On the other hand, researchers have demonstrated that genetic factors can effectively identify a subset of high risk individuals, and that the benefit from statin therapy is greatest among individuals with the highest genetic risk score (GRS). These individuals also receive the greatest absolute benefit from healthy lifestyle choices, being able to titrate their risk to normal levels despite high genetic predisposition. However, it is not yet possible for the average individual to discover their genetic risk because no tools are currently available to make such a determination. Here, we present a free mobile app – MyGeneRank – that can provide this information. Individuals may choose to use this knowledge to complement traditional risk assessments, and make critical decisions regarding lifelong statin therapy and lifestyle changes. As of 1/25/2017, MyGeneRank is currently in closed beta and will soon be available to the public.

Predicting Polygenic Risk of Psychiatric Disorders

“…The future of genetic risk prediction is anticipated to benefit several areas of research and clinical practice, and democratize the interpretation of personalized medicine. For example, user interfaces such as KardioKompassi in Finland and a mobile app, MyGeneRank, have recently been developed to provide personalized polygenic risk scores for coronary artery disease (101). Contrasting these tools, however, highlights the differences in predictive power; the former tool integrates a risk score computed from the largest genetic scan of cardiovascular disease using genome-wide clumped SNPs (N ~ 50,000) and integrates measured clinical and environmental risk factors.…”

Response to Polygenic Risk: Results of the MyGeneRank Mobile Application-Based Coronary Artery Disease Study

“…The MyGeneRank study was launched in August of 2017 as solely an iOS application. The initial development and basic design is described previously (31). The first version of the study app calculated and returned a 57-SNP CAD PRS based upon the latest CAD GWAS meta-analysis at the time (32).…”

Genetic counseling, 2030: An on‐demand service tailored to the needs of a price conscious, genetically literate, and busy world

“…It is indeed possible that by 2030, many major medical conditions will have a predictive polygenic score used to estimate risk for anyone. PGS for CAD, for example, have been shown to improve the positive predictive value when combined with established measures of risk, such as age, sex, and smoking history (Muse et al, ). Evidence indicates that people change their lifestyle and have improved medication adherence when presented with their PGS risk for CAD (Muse et al, ).…”

“…PGS for CAD, for example, have been shown to improve the positive predictive value when combined with established measures of risk, such as age, sex, and smoking history (Muse et al, ). Evidence indicates that people change their lifestyle and have improved medication adherence when presented with their PGS risk for CAD (Muse et al, ). Recent studies have shown that much of the missing heritability of human traits and disease can be explained by PGS (Maher, ).…”

“…Evidence indicates that people change their lifestyle and have improved medication adherence when presented with their PGS risk for CAD (Muse et al, 2017). Recent studies have shown that much of the missing heritability of human traits and disease can be explained by PGS (Maher, 2008).…”