New study: genome data helps prevent most common cause of death among Finns

A genetic test for heart disease shows great promise in the fight against Finland's biggest killer.
kuvaaja: Patrik Rastenberg

Writer

Jukka Vahti

Leading Specialist, Communication and Public Affairs, Sitra

Published

According to a joint research project by the Finnish Innovation Fund Sitra, the Institute of Molecular Medicine Finland (FIMM) and the Finnish Red Cross Blood Service, a genome-based health-risk assessment would be worth exploiting in the prevention of cardiovascular diseases. A clear majority of the study participants intended to take better care of their health due to their health-risk assessment. Only around 15% were concerned about their results. The research project included the development of CardioCompass, a tool for the self-assessment of a person’s risk of developing a disease.

Atherosclerosis – coronary artery disease – is one of the most common cardiovascular diseases and the most common cause of death among Finns. Every year, some 10,000 people die from atherosclerosis in Finland; half die suddenly, often due to heart failure. In light of the new research information, many such cases of atherosclerosis could be prevented if persons with a hereditary risk were more effectively identified and made aware of their elevated health risk.

A digital CardioCompass tool was developed in a research project carried out by the University of Helsinki’s Institute of Molecular Medicine Finland (FIMM) and Finnish Red Cross Blood Service, funded by the Finnish Innovation Fund Sitra. CardioCompass provides an analysis of the risk of developing a cardiovascular disease, by combining genetic testing results with conventional human health risk factors. Such risk factors include the person’s blood cholesterol level, high blood pressure, smoking and excess weight. The results of the projects were introduced at a breakfast meeting organised by Sitra in Helsinki on Thursday 3 December.

“CardioCompass, a tool of international importance, is based on researched information available to citizens, researchers and doctors. It clearly demonstrates how the risk of developing a disease rises or falls as individual risk factors change,” Senior Researcher Elisabeth Widén from FIMM explains.

Genetic testing makes risk assessment more accurate

To benefit both individuals and the nation, the CardioCompass tool should be incorporated in preventive healthcare. Most participants in the study were in favour of wider use of genetic testing within healthcare.

“Using genetic testing to prevent cardiovascular diseases would also support the goals of the national genome strategy,” says Sitra’s Senior Lead Tuula Tiihonen.

Since lifestyle changes can reduce the risk of certain diseases, the CardioCompass tool illustrates the impact lifestyle changes would have on the risk assessment. However, genetic testing can now render risk assessments much more accurate, since half of the risk is based on hereditary factors.

Being aware of a hereditary risk is also important when prescribing preventive medication. This is confirmed by a recent international research finding, according to which statins – cholestorol lowering drugs – are most beneficial to those with a hereditary high disease risk.

“This is a major finding. We can use genome data for the better targeting of treatment,” says Elisabeth Widén.

Welcome information

A total of 176 volunteers aged between 40 and 49 took part in the study. Assessment of their hereditary risk of developing atherosclerosis was based on 42 genomic variants. The participants were given access to a risk profile, the opportunity to self-manage the information it contained and to make use of the information later if they wished.

Some 80% of the respondents to the questionnaire felt that it would be important to understand their personal health risk and hoped that the service would be incorporated in general healthcare services. In addition, after receiving their personal health risk data, 64% felt motivated to take better care of their health. Sitra has previously obtained similar results from its citizen attitude survey.

As part of the study, the suitability of blood donations for research use and the transfer of genetic information from a laboratory to a test person’s personal online health account were also tested for the first time in Finland.

“Our perception that, with a little bit of extra work, blood donations could be used in the collection of biological datasets, was confirmed,” says Research Director Jukka Partanen from the Finnish Red Cross Blood Service.

CardioCompass has also been used at the University of Helsinki Faculty of Medicine, where future doctors had the opportunity to unfold the secrets of their personal genome sequences in a personalised medicine course. The use and development of CardioCompass, which analyses the risk of developing a cardiovascular disease, will be continued in the GeneRISK research project launched last spring; 10,000 volunteers are participating in this through the Kymenlaakso Hospital District, the occupational health services of Mehiläinen, and the Finnish Red Cross Blood Services. The goal is to determine the participants’ risk of developing a cardiovascular disease. Volunteers were eager to participate, particularly in the Kymenlaakso region.

“In Kymenlaakso, appointments have been booked well into the summer of 2016,” confirms Professor Samuli Ripatti from the University of Helsinki.

For further information, please contact:

Elisabeth Widén, Senior Researcher, Institute for Molecular Medicine Finland (FIMM) and University of Helsinki, tel. +350 50 381 2738
Samuli Ripatti, Professor, FIMM and University of Helsinki, +358 40 567 0826
Jukka Partanen, Research Director, Finnish Red Cross Blood Service, +358 50 370 7383
Tuula Tiihonen, Senior Lead, Sitra, +358 40 160 9070
Marja Pirttivaara, Senior Lead, Sitra, tel. +358 40 766 2475

Topic

Self-care

Self-care services are a way to increase the well-being of Finns and to target healthcare more effectively.

Writer

Jukka Vahti

Leading Specialist, Communication and Public Affairs, Sitra

Published

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