Genetic risk assessment delivers measurable value to consumers

Thursday, February 14, 2019

Determining the genetic component of health risks is increasingly a part of healthcare services[1]. Lactose intolerance, for example, was earlier diagnosed using a lactose tolerance test, which involved drinking a lactose solution. This method has been replaced by a more accurate genetic test investigating a single gene. Determining the inherited variant of single genes is also used to measure individual response to many medications.

The range of health risks whose genetic component can be measured has greatly increased in recent years.

It is now possible to measure the genetic component of risk for diseases that are not determined by only a single gene, but by the interaction of as many as hundreds of genes.

Genomic testing has been the subject of much media attention, and for good reason. The tenor of public discussion is characterised by hopefulness and uncertainty. Can currently available tests be trusted? And can they deliver meaningful value to the individual?

The former question demands a closer look. Most human diseases are polygenic, meaning that their risk estimation requires the analysis of hundreds or thousands of gene variants. For a genetic risk assessment to be accurate, it needs to encompass a sufficient amount of gene variants with a significant association to the health risk analysed, for example cardiovascular disease. Only a small number of businesses in the market openly state the number of genetic variants linked to risk that their tests encompass. The consumer is thus left with uncertainty about the accuracy of their test results.

The association also needs to be validated and specific to the population studied; in other words, it is necessary to confirm that the test accurately predicts risk in the population to which the individual belongs. An assessment of accuracy should also take into account the individual’s genetic distance from the population in which the genetic variants have been shown to associate with risk. Finnish Carelians carry a different combination of risk variants than do Cameroonians.

Quality and trust are at the core of how we do business at Negen. We only offer tests that are based on strong scientific evidence with findings of very high certainty in light of current knowledge. Our analyses encompass a wide swathe of genetic risk variants that have, combined as a genetic risk score, been proven to associate with incident risk of the disease in question in Finnish population samples. In the case of cardiovascular disease, for example, this means almost 50 thousand variants at the time of writing. Our test panels are under constant development and evaluation as medical research further clarifies the genetic bases of disease risks.

What about the latter question, can genomic tests deliver real value? The answer can be found in the interim report published by the GeneRISK research group[2][3]. Perhaps the most important finding is that, of those participants who were given a comprehensive disease risk assessment involving both genetic risk and lifestyle factors, 26 percent took concrete action to reduce their risk. Eighteen months later an astonishing number of smokers had managed to quit (14 percent), achieved their weight-loss goal (13 percent), or sought medical advice from a doctor on reducing risk.

In other words, more than a quarter of the group took sustained and meaningful action. This is exactly what the Negen mission is about — a reliable risk assessment delivered in time creates lasting motivation for healthier life choices. And that means a longer and healthier life.

What’s more, when the genetic component of risk was added to results of an established lifestyle risk questionnaire, the greater accuracy led to a significant change in overall risk score for many participants[2][3]. Some received a higher relative risk score, and now know to take greater care. Over a quarter of participants originally ranked as having higher relative risk were downgraded to average risk. Preventive measures among the study population can now be directed more efficiently and accurately.

In summary, identifying the genetic component of disease risk is a valuable tool to augment personal health choices. The work of healthcare as a whole would greatly benefit from the ability to accurately assess risk before disease onset. Of diseases affecting the Finnish population, cardiovascular disease and type 2 diabetes in particular are largely preventable[4][5]. Early and accurate assessment of disease risk helps to focus healthcare resources and creates lasting motivation for healthier life choices.


  1. Porkka et al. Genomilääketieteen sovelluksia sairauksien hoidossa. Duodecim 2017;133:782–90
  2. Widen et al a. Individual access to genomic disease risk factors has a beneficial impact on lifestyles. ESHG 2018, Abstract C01.2
  3. Widen et al. b High Polygenic Risk Score for Heart Disease Motivates Patients to Make Lifestyle Changes. ASHG 2018 poster 270.
  4. World Health Organisation: Global report on diabetes (2016). Cited 01.02.2019
  5. Terveyden ja hyvinvoinnin laitos: Tyypin 2 diabeteksen ehkäisy. Cited 01.02.2019
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