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Disease prevention and cancer screening would benefit from genomic risk assessment

Aarno Palotie

A new Finnish study has demonstrated the benefits of large-scale genomic information in estimating the risk of onset for cardiac diseases, diabetes and common cancers.

The findings, based on the FinnGen research dataset encompassing more than 135,000 Finns, show that new tools based on genomic data are helpful in identifying high-risk individuals not identified by the current system. The findings has been published the Nature Medicine journal.

“A study that combines genomic and health data in such an extensive dataset is exceptional even on the global scale. From the perspective of our healthcare system, it’s great to have been able to study Finnish individuals, making the results also directly applicable to Finns,” says Aarno Palotie, scientific director of the FinnGen research project.

Genome-wide polygenic risk scores

The study focused on five common diseases: coronary heart disease, type 2 diabetes, atrial fibrillation, breast cancer and prostate cancer. Previous studies have identified numerous genetic risk factors for each of these diseases. In this study, the data pertaining to all of these individual risk factors was combined into what are known as genome-wide polygenic risk scores. These scores were calculated for all the 135,000 study subjects, for each of the five diseases.

“In terms of cardiovascular diseases and diabetes, genomic information alone can identify individuals who have a lifetime risk of more than 60% of developing these diseases, which means that most of them will develop these diseases at some point of their lives,” says the principal investigator of the study, Professor Samuli Ripatti from the University of Helsinki.

Personalized risk calculation engenders opportunities

The research group also combined genetic risk data with currently known risk factors and clinical risk calculators. Adding genomic information improved the accuracy of current risk estimation approaches.

“Our findings show that the genetic risk profile was a significant factor in predicting the onset of all five diseases studied. A particular benefit was seen in the identification of individuals who develop diseases at a younger age than on average,” says Nina Mars, doctor of medical science at the Institute for Molecular Medicine Finland (FIMM) of the University of Helsinki, who carried out the study. “Personalized risk calculation engenders opportunities that are important to healthcare. Risk assessment that utilizes genomic information could be employed in, for example, determining the age when breast and prostate cancer screening begins. One option is to have those with a elevated genetic risk already undergo screening earlier than instructed in the current screening recommendations.”

Source: Mari Kaunisto/FIMM

Photo of Aarno Palotie: Linda Tammisto