Genomic Information Can Identify Individuals at High Risk for Cancer, Heart Disease, and Diabetes

Genomic information can be used to identify individuals at high risk for heart disease, diabetes, and cancer screening, according to the findings of a study published in the journal Nature Medicine.

In this study, researchers focused on five common diseases: coronary heart disease, type 2 diabetes, atrial fibrillation, breast cancer and prostate cancer. Subsequently, data pertaining to all individual risk factors was combined into a genome-wide polygenic risk scores. These scores were calculated for more than of 135,000 study subjects, for each of the five diseases.

“Our findings show that the genetic risk profile was a significant factor in predicting the onset of all five diseases studied,” said Nina Mars, doctor of medical science at the Institute for Molecular Medicine Finland (FIMM) of the University of Helsinki, who carried out the study, in a press release. “A particular benefit was seen in the identification of individuals who develop diseases at a younger age than on average.”


Dr. Mars added that “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.”

Aarno Palotie, scientific director of the FinnGen research project said that 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.”