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Clinical Pilots

Complex genetic diseases, such as cardiovascular diseases (CVDs) and breast cancers are prevalent causes of mortality worldwide. Polygenic risk scores (PRS) for CVD and breast cancer can therefore improve risk prediction, but there is limited information on their utility in various clinical situations, and assessment of polygenic risk for CVD is not used in a regular clinical practice yet. INTERVENE is carrying out two clinical pilot studies to assess whether awareness of high genetic risk leads people to make healthier choices to prevent the related illness.

Assessing the impact of polygenic risk awareness on cardiovascular risk prevention

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To assess the health impacts of learning of one's high polygenic risk for CVD, INTERVENE is conducting a randomized controlled trial  in a primary care setting, under real-life conditions. The trial is underway in Estonia and led by Mikk Jürisson, MD, PhD, from the University of Tartu

The goal of this clinical trial is to evaluate the impact of awareness of high polygenic risk for CVD on health behavior among young overweight adults. The goal is to assess the impact of awareness of high polygenic risk for CVD on body mass index within 12 months, the impact of awareness of high polygenic risk for CVD on other health indicators (e.g., physical activity, blood pressure, cholesterol and triglyceride levels), and assess the cost-effectiveness of informing people about the high polygenic risk for CVD.

The trial is conducted in a primary care setting,  where the subjects with a high genetic risk for CVD will be invited to visit their family physician. In the course of the first visit, the family physician will assess the participant's health status and counsel the participant on healthy choices for increasing their level of physical activity and losing weight. If necessary, the family physician will start treatment to lower the participant's blood pressure or cholesterol following current treatment guidelines. The participants in the intervention group will be informed of their high polygenic risk for CVD at the start of the study, while the control subjects will learn about their risk at the end of the study. There will be three study visits at 6-month intervals. Between visits, the participants will receive reminders via a mobile health application to change their health behavior. At the end of the trial (month 12), the health indicators of the participants will be assessed and compared between the three trial groups.

Evaluating the clinical and economic impact of using polygenic risk information for decision support and primary prevention of breast cancer

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In women, breast cancer is the most commonly diagnosed cancer and the leading cause of cancer-related deaths. 


While approximately 5–10% of all breast cancers are estimated to develop due to high-impact germline mutations in breast cancer susceptibility genes, it is known that breast cancer has a highly polygenic mode of inheritance, with large-scale genetic screens having identified over a hundred loci associated with risk of breast cancer.

The overall aim of the pilot is to measure both high-impact mutations and polygenic risk in ~1,600 cases and their first-degree relatives, assess the impact of polygenic risk on breast cancer stage and prognosis, and test the impact of polygenic risk information for decision support and primary prevention in first-degree relatives. 

The pilot will be conducted in Finland and Italy in partnership between the Institute of Molecular Medicine, University of Helsinki, HUS, University of Turin, and University of Siena. 

A shared protocol for recruiting index cases and relatives is currently awaiting approval. 

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