Scientists at the Scripps Translational Science Institute and the Scripps Research Institute in the US have launched a study to understand how receiving personal genetic risk information impacts health decisions.

To conduct the study, the scientists developed the MyGeneRank app using Apple’s ResearchKit platform that, with the user’s permission, connects with the 23andMe app to automatically calculate an estimated genetic risk score for coronary artery disease (CAD), the first focus of the study.

The app calculates a 10-year absolute risk estimate for an adverse coronary event, such as heart attack, using a combination of genetic and clinical factors. Users are then able to adjust behavioural risk factors to see the impact of lifestyle habits on their overall risk.

Study participants are required to complete a survey immediately upon receipt of their score, as well as six months later to determine whether knowledge of their genetic risk influenced their health decisions. Through its integration with the Health app on iPhone, users can choose to share their health, activity and nutrition data with researchers to further assess changes in behaviour.

“We want to determine whether or not knowledge of genetic risk impacts decision-making when it comes to health behaviours or statin therapy,” said Director of Genomics at the Scripps Translational Science Institute, and Associate Professor of Integrative Structural and Computational Biology at The Scripps Research Institute, Ali Torkamani, who’s leading the study.

“Using ResearchKit, we can reach more participants via iPhone, expanding this study far beyond geographic barriers,” continued Torkamani.

Many health conditions, including CAD, are caused by a combination of the environment, behaviour and genes. While patients can control some factors that may impact their chances of developing disease, the contribution of their genes remains encoded in their DNA throughout their lives.

Research has shown that a genetic risk score can be used to identify people with low, intermediate and high risk for CAD. Research has also indicated that the use of cholesterol-lowering drugs provides greater protection for people with a high genetic risk for CAD. Those at risk of CAD are also able to offset much of their genetic risk by maintaining healthy lifestyle habits.

“We are excited to launch a unique study that combines an iOS app and genomics to help guide important health decisions,” said Founder and Director of the Scripps Translational Science Institute and Professor of Molecular Medicine at the Scripps Research Institute, Dr Eric Topol.

“Not only does participating in the study arm individuals with their own data, but it also gives them the opportunity to participate in new type of research – one that is driven by and for patients,” continued Dr Topol.

In the future the scientists plan on expanding the app’s offering of genetic risk scores to other diseases, as well developing an app for Android devices.

The MyGeneRank app is available for free via the Apple App Store.

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