APA 7: TWs Editor & ChatGPT. (2023, November 9). Scientists Find 1 in 25 Individuals Possess a Genotype Linked to Reduced Lifespan. PerEXP Teamworks. [News Link]
The successful implementation of precision medicine for a population necessitates an extensive dataset encompassing genomics, transcriptomics, and proteomics information. Icelanders are uniquely positioned to spearhead this initiative, as they possess an unparalleled wealth of such data, making them exceptionally well-equipped for this endeavor.
The research, featured in the New England Journal of Medicine, delves into specific genotypes that elevate the risk of diseases for which preventative or treatment strategies are well-documented. These genotypes, referred to as actionable genotypes, were investigated using a comprehensive dataset derived from a population of 58,000 Icelanders who underwent whole-genome sequencing. The aim was to determine the proportion of individuals carrying these actionable genotypes.
By employing a roster of 73 actionable genes in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines, the researchers made a noteworthy discovery: Approximately 4% of Icelanders possess an actionable genotype within one or more of these genes. The resultant diseases linked to these genotypes encompass a spectrum of health issues, including cardiovascular ailments, cancer, and metabolic disorders.
In examining the connection between actionable genotypes and the lifespan of individuals carrying them, the study revealed a significant impact. The most pronounced effect was observed in those bearing genotypes predisposing them to cancer, with carriers experiencing a median survival approximately three years shorter than their non-carrier counterparts.
A pathogenic variant within BRCA2, which increases the susceptibility to breast, ovarian, and pancreatic cancer, was associated with a remarkable reduction in lifespan, shortening it by seven years. Likewise, a variant in LDLR, responsible for elevated cholesterol levels and cardiovascular disease, was linked to a significant six-year reduction in lifespan.
The paper’s author, Patrick Sulem, a scientist at deCODE genetics, pointed out that the outcomes of their research indicate that the actionable genotypes they identified, all of which are predicted to lead to severe diseases, could exert a profound impact on an individual’s lifespan.
The findings revealed a heightened risk of mortality among individuals carrying specific actionable genotypes, particularly from diseases associated with these genotypes. For instance, individuals with a pathogenic variant in BRCA2 faced a seven-fold higher likelihood of succumbing to breast, ovarian, or pancreatic cancer. Moreover, these individuals are 3.5 times more prone to prostate cancer development and face a seven-fold increased risk of prostate cancer-related mortality compared to those lacking the mentioned genetic variant.
According to the researchers, the study revealed that one in 25 individuals carries an actionable genotype, which is associated with, on average, a reduced lifespan. Kari Stefansson, the CEO of deCODE genetics and an author of the paper, emphasized that recognizing and sharing actionable genotypes with participants can serve as a valuable tool in clinical decision-making. This, in turn, has the potential to lead to better patient outcomes and a significant reduction in the overall disease burden for both individuals and society.
Resources
- NEWSPAPER deCODE genetics. (2023, November 8). 1 in 25 carries a genotype that is associated with a shortened lifespan, according to scientists. Medical Xpress. [Medical Xpress]
- JOURNAL Jensson, B. O., Arnadottir, G. A., Katrinardottir, H., Fridriksdottir, R., Helgason, H., Oddsson, A., Sveinbjornsson, G., Eggertsson, H. P., Halldorsson, G. H., Atlason, B. A., Jonsson, H., Oskarsson, G. R., Sturluson, A., Gudjonsson, S. A., Thorisson, G. A., Zink, F., Moore, K. H. S., Palsson, G., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., Magnusson, M. K., Helgadottir, A., Steinthorsdottir, V., Gudmundsson, J., Stacey, S. N., Hilmarsson, R., Olafsson, I., Johannsson, O. T., Arnar, D. O., Saemundsdottir, J., Magnusson, O. T., Masson, G., Halldorsson, B. V., Helgason, A., Stefansson, H., Jonsdottir, I., Holm, H., Rafnar, T., Thorsteinsdottir, U., Gudbjartsson, D. F., Stefansson, K., & Sulem, P. (2023). Actionable Genotypes and Their Association with Life Span in Iceland. New England Journal of Medicine, 389(17), 1741-1752. [New England Journal of Medicine]
