The effect of individual genes on longevity in the Icelandic population is the topic of significant research released recently by experts at deCODE Genetics. In view of the healthcare revolution promised by the findings published in the respected New England Journal of Medicine, Iceland’s government has launched a statewide precision medicine effort.Â
Iceland is a strong contender for this attempt because to the massive quantity of data gathered in the fields of genomes, transcriptomics, and proteomics. Research using whole-genome sequences from 58,000 Icelanders sought “actionable genotypes,” or those associated to an elevated risk of illnesses with established preventative or treatment approaches.Â
The scientists concentrated on the 73 genes on ACMG’s list that were discovered to have direct clinical effects. Surprisingly, 4% of Icelanders were discovered to have a disease-causing genotype in at least one of these genes, placing them at risk for illnesses such as cardiovascular disease, cancer, and metabolic disorders.Â
Researchers also investigated if there was a link between changing genes and mortality. persons with cancer propensity genes had a three-year lower median survival time than persons without these genes.Â
Some of the variations studied were linked to substantial reductions in life expectancy. Carriers of a pathogenic variation in BRCA2, which has been related to breast, ovarian, and pancreatic cancer, have a seven-year reduction in life expectancy. A LDLR mutation related to high cholesterol and cardiovascular illness was also connected to a six-year drop in life expectancy.Â
According to Patrick Sulem, a researcher at deCODE Genetics, “our results suggest that the actionable genotypes identified in our study, all of which are predicted to cause serious disease, may have a drastic effect on lifespan.”Â
Diseases connected with these genes, according to the data, greatly increase mortality risk. BRCA2 mutation carriers were seven times more likely to develop breast, ovarian, or pancreatic cancer. When compared to individuals who did not have the gene, those who did had a 3.5-fold increased risk of developing prostate cancer and a 7-fold increased risk of dying from it.Â
The impact of this work extends well beyond academics. Kari Stefansson, CEO of deCODE genetics, mentioned the possible influence on clinical decision-making. Patient outcomes may improve if actionable genotypes of individuals can be discovered and communicated. Stefansson said: “As a result, this information has the potential to significantly reduce the disease burden for individuals and society.”Â
The findings of this landmark study not only shed light on the complex relationship between genetics and lifespan but also pave the way for a new age of customized care in Iceland. These discoveries have far-reaching ramifications for healthcare policy and people’s health and well-being.Â
Journal Reference Â
Jensson, B. O., Arnadottir, G. A., Katrinardottir, H., Fridriksdottir, R., Helgason, H., Oddsson, A., … Sulem, P. (2023). New England Journal of Medicine, 389(19), 1741–1752. doi:10.1056/nejmoa2300792Â
