New Study Reveals 1 in 25 Individuals Have Genotype Linked to Shortened Lifespan

deCODE genetics researchers have published a study on actionable genotypes identified in the Icelandic population and their correlation with lifespan. The findings from this research have prompted the Icelandic government to initiate a comprehensive precision medicine initiative.

As precision medicine delivery to a population necessitates extensive genomic, transcriptomic, and proteomic data, Icelanders are uniquely positioned due to the unparalleled abundance of such data.

The study, featured in the New England Journal of Medicine, delves into genotypes that elevate the risk of preventable or treatable diseases, commonly referred to as actionable genotypes. Scientists leveraged genome sequencing data from 58,000 Icelanders to identify the prevalence of such genotypes in the population.

Based on the study’s analysis using guidelines from the American College of Medical Genetics and Genomics (ACMG), researchers found that 4% of Icelanders carry actionable genotypes related to cardiovascular, cancer, and metabolic diseases.

The research also explored the influence of actionable genotypes on lifespan. Individuals with cancer-susceptible genotypes exhibited a median survival three years shorter than non-carriers. For instance, a variant in BRCA2, linked to breast, ovarian, and pancreatic cancer, reduced lifespan by seven years, while an LDLR variant, contributing to high cholesterol and cardiovascular disease, curtailed lifespan by six years.

Patrick Sulem, a scientist at deCODE genetics and co-author of the paper, remarked, “Our study indicates that the actionable genotypes we identified, all associated with severe diseases, may significantly impact lifespan.”

Further insights revealed that carriers of specific actionable genotypes were more susceptible to diseases caused by these genotypes. Individuals with a pathogenic BRCA2 variant had a sevenfold risk of dying from breast, ovarian, or pancreatic cancer, along with a 3.5 times higher likelihood of developing prostate cancer and a sevenfold increased risk of succumbing to the disease.

Researchers concluded that 1 in 25 individuals possess an actionable genotype, resulting in an average reduction in lifespan. Kari Stefansson, the CEO of deCODE genetics and lead author of the paper, stated, “The identification and disclosure of actionable genotypes to participants can guide clinical decision-making, potentially leading to better patient outcomes. This knowledge holds significant potential to alleviate disease burden for individuals and society.”

Provided by deCODE genetics

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