A new study has revealed that a significant percentage of Icelanders carry genotypes linked to serious diseases, impacting their lifespan. The study, which analyzed 58,000 whole-genome sequenced Icelanders, found that actionable genotypes, particularly those predisposing individuals to cancer and cardiovascular diseases, significantly shorten life expectancy. These findings have led to a national precision medicine initiative in Iceland, underscoring the potential of genomic data in improving healthcare and patient outcomes.
Scientists at deCODE genetics, a subsidiary of Amgen, have published a study exploring the relationship between specific genotypes found in the Icelandic population and their impact on lifespan. This study has inspired the Icelandic government to initiate a comprehensive precision medicine program. Precision medicine delivery relies heavily on extensive data in genomics, transcriptomics, and proteomics, areas where Icelanders have a unique advantage because they behold an unprecedented amount of such data.
The study, recently published in the New England Journal of Medicine, focuses on genotypes that increase the risk of a disease for which preventive or therapeutic measures have been established. These genotypes are termed actionable genotypes. The scientists used a population-based data set, consisting of 58,000 whole-genome sequenced Icelanders, to assess the fraction of individuals carrying actionable genotypes.
Utilizing a list of 73 actionable genes from the guidelines from the American College of Medical Genetics and Genomics (ACMG), the scientists found that 4% of Icelanders carry an actionable genotype in one or more of these genes. The diseases caused by these genotypes include cardiovascular, cancer, and metabolic diseases.
Impact of Actionable Genotypes on Lifespan
The study assessed the relationship between actionable genotypes and the lifespan of their carriers. The largest effect was observed among carriers of cancer-predisposing genotypes, which had three years shorter median survival than non-carriers. A pathogenic variant in BRCA2, predisposing to breast, ovarian, and pancreatic cancer, shortened lifespan by seven years, and a variant in
