Researchers have discovered a link between “actionable” genotypes, which can increase the risks of certain pathologies, and a reduction in life expectancy.
- Actionable genotypes may increase the risk of certain diseases.
- In one study, researchers observed that 4% of Icelanders carried an actionable genotype in one or more of these genes.
- A pathogenic variant of the BRCA2 gene, which predisposes to breast, ovarian and pancreatic cancer, has been linked to a reduction in life expectancy of seven years.
A recent study published in the New England Journal of Medicine, observed the relationship between “actionable” genotypes, which can increase the risks of certain diseases for which preventive or therapeutic measures have been established, and the lifespan of their carriers. The genotype represents all of a person’s genes, which are transmitted to them by their parents. It therefore describes the genetic heritage of an organism and the specific alleles of a particular gene.
Cancers, cardiovascular diseases… Actionable genotypes can cause certain pathologies
For this research, scientists at deCODE genetics, a biopharmaceutical company, examined a dataset of 58,000 Icelanders whose entire genomes were sequenced to assess the fraction of individuals carrying actionable genotypes. .
During this work, the researchers determined that 4% of Icelanders carried an actionable genotype in one or more of these genes. Different pathologies can be caused by these genotypes, including cancers, cardiovascular and metabolic diseases.
A reduction in lifespan among carriers of certain genetic variants
According to the results, a pathogenic variant of the BRCA2 gene, which predisposes to breast, ovarian and pancreatic cancer, reduced lifespan by seven years, and a variant of the LDLR gene, which causes high cholesterol and cardiovascular diseases, reduced the life expectancy of carriers by six years. As the scientists noted, people with a pathogenic variant of the BRCA2 gene are seven times more likely to die from breast, ovarian or pancreatic cancer.
This work also concluded that one in 25 individuals carried an exploitable genotype and had, on average, a shorter lifespan. “Identifying and disclosing actionable genotypes to participants can guide clinical decision-making, which can improve patient outcomes”emphasized Kari Stefansson, author of the article and CEO of deCODE genetics.
