Genomic testing provides the earliest indication of elevated disease risk

Wednesday, March 27, 2019

Coronary artery disease and type 2 diabetes are currently a huge burden on population health, despite already available, very cost-efficient preventive measures. A total risk assessment that encompasses both genetic risk factors and lifestyle factors is a proven method for creating lasting motivation for lifestyle changes, which then reduce disease risk significantly. Other risk estimation tools signal heightened risk only once physiological indicators of risk are already elevated.

Circulatory diseases still account for too many deaths in Finland every year. Determined public health efforts have reduced their proportion of total deaths, and yet they still account for approximately 36 percent.[1]

Another significant burden on population health, type 2 diabetes, is surging globally, in Finland also.[2] The costs of treating type 2 diabetes already account for 15 percent of total healthcare expenditure in Finland.[3] Significantly, this estimate does not include indirect costs incurred by the disease.

Significant prevention of illness is entirely realistic

Coronary artery disease (the most common cause of death among circulatory diseases) and type 2 diabetes can, in most cases, be prevented very effectively. In most cases, disease onset can be delayed by many years or prevented altogether, if preventive measures are undertaken early[4][5]. At the heart of healthcare efforts, then, is accurate and early detection of elevated risk in individuals.

Many tools are available for assessing risk, some of which have only become available recently. Risk for coronary artery disease, for example, has conventionally been estimated using blood cholesterol levels as an indicator. The study of metabolic products in the blood, metabolomics, promises more accurate tools in future. The method has a weakness, however, in that measuring metabolic products does not provide useful information about disease risk until the measures of interest are already elevated.

The genome is one of the factors determining individual disease risk. One’s genome is unchanging, so the genetic component of disease risk can be measured at any age. One assessment in a lifetime will suffice.

The advantage of genomic testing as a risk management tool is that genetic risk can be determined long before elevated risk brought on by lifestyle factors is detectable. If genetic risk is high, one can then get an early start on preventive measures. From the point of view of the individual (and of the healthcare system bearing the costs) it is preferable that blood cholesterol levels, for example, never rise in the first place to a level where medication is needed.

Public health efforts need more genuinely effective tools

The undeniably most cost effective prevention measure for coronary artery disease and type 2 diabetes is a reasonably active lifestyle combined with a balanced diet. The benefits of exercise and clean eating are already known to all, but people are not machines — it is not enough to simply publish new instructions and wait for the public to change their lives. If that were the case, we would never again have to see magazine covers promising this week’s top tips for washboard abs. We need genuinely effective tools to empower people to take control of their own lifelong health.

Genomic testing is an effective tool: knowing one’s genetic risk delivers tangible benefits. The genome is personal, and knowing it makes one’s total risk estimate more tangible and easier to grasp. Knowing one’s total risk for illness, including the genetic component of risk, has been shown to create lasting motivation for lifestyle changes.[6][7]

For those interested in knowing and managing their risk for coronary artery disease or type 2 disease, the first action we recommend is consulting a physician. Before you do so, however, you can already try our free risk estimation tool, which includes both genetic and lifestyle risk factors. Without a genomic analysis we cannot tell you anything about your genome, but the tool gives you estimates of total risk assuming your genetic risk is in the low, intermediate or high tier.

By knowing your risk you gain better control over your health. Make a lifelong positive health choice today by finding out your risk of illness.

Read more about our Negen 360 genomic analysis


  1. Official Statistics of Finland (OSF): Causes of death [e-publication].
    ISSN=1799-5078. 2017, Appendix figure 1. Age-standardised mortality from diseases of the circulatory system in 1971 to 2017. Helsinki: Statistics Finland [referred: 26.3.2019].
    Access method:
  2. National Institute for Health and Welfare. Diabetes. Referred 5.3.2019
  3. Type 3 diabetes. Current care guidelines. Working group convened by The Finnish Medical Society Duodecim, the Association of Internal Medicine Finland, and the Council of Physicians of The Finnish Diabetes Association. Helsinki: The Finnish Medical Society Duodecim, 2018 (cited 05.03.2019). Available online:
  4. Duodecim Terveyskirjasto, Sepelvaltimotauti., cited 4.3.2019
  5. World Health Organisation: Global report on diabetes (2016). Cited 01.02.2019
  6. Widen et al a. Individual access to genomic disease risk factors has a beneficial impact on lifestyles. ESHG 2018, Abstract C01.2
  7. Widen et al. b High Polygenic Risk Score for Heart Disease Motivates Patients to Make Lifestyle Changes. ASHG 2018 poster 270.
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