New tools are needed to communicate information about inherited risks

Published 09.12.2015


New tools are needed to
communicate information
about inherited risks

In the future, it will be possible to screen patients for tens of thousands of genomic variants – or even more – in order to find out information on the inherited risks of national diseases.

– The current procedure where a physician orders the genetic test and receives printed results will no longer be feasible, says Senior Researcher Elisabeth Widén of the Institute for Molecular Medicine Finland (IMMF).

Widén participated in development of the CardioCompass web service that provides patients with an analysis of their risk of developing a cardiovascular disease. The results can be used to explain the hereditary risk of developing heart disease both to the patient and to his or her physician.

CardioCompass was piloted by 176 people whose hereditary risk of developing atherosclerosis was assessed based on 42 of the most significant genomic variants prone to cardiovascular disease. In addition, participants could enter further risk factors, such as blood cholesterol level, high blood pressure and smoking in the system themselves.

The risk curve presented participants with their probability of developing cardiovascular disease in the years to come and gave them an opportunity to compare their own risk with the average throughout the population.

Users could also observe how lifestyle changes would affect their risk. What would happen to the curve, if I stop smoking? What if I lowered my elevated cholesterol level?

– Participants found the web service to be beneficial and easy to use and the information on hereditary risk increased their motivation to take better care of their health.

According to Widén, this does not mean that people would actually change their habits as such, but this would be an excellent moment to give lifestyle coaching because people are receptive.

GeneRISK appointments are already booked for a year

CardioCompass is currently being tested as part of the more extensive GeneRISK research project led by Widén. The GeneRISK research project launched last spring will recruit 10,000 healthy volunteers through the Kymenlaakso Hospital District, the occupational health services of Mehiläinen – a leading private provider of health care – and the Finnish Red Cross Blood Services.

– The goal is to determine participants’ risk of developing cardiovascular diseases and to communicate the risk to physicians, participants and researchers.

Volunteers will be given a health checkup and the most significant genetic variants that convey a risk of cardiovascular disease will be analyzed from participants’ blood samples. Results will be communicated using the CardioCompass web service.

– Volunteers are so eager to participate that we have a year-long queue for the health checkups, Widén says.

– Naturally, we only see those people who are excited about this opportunity. Those who have doubts and concerns do not necessarily want to know, Widén continues.

The results will be available immediately for physicians in their clinical work and the CardioCompass system will be integrated into the electronic decision-making support system of Duodecim, the Finnish Medical Society.

Text and photo: Virpi Ekholm

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