Scientists at deCODE genetics, a subsidiary of Amgen, have published a study on actionable genotypes detected in the Icelandic population and their association with life expectancy. The results of this study are among the things that have motivated the Icelandic government to announce a national effort on precision medicine. Since delivering precision medicine to a population requires a considerable amount of data on population genomics, transcriptomics, and proteomics, Icelanders are currently exceptionally well prepared for this effort because they are looking at an unprecedented amount of such data.
REYKJAVIK, Iceland, Nov. 15, 2023 /PRNewswire/ -- The study, published today in the New England Journal of Medicine, focuses on genotypes that increase the risk of developing a disease for which preventive or therapeutic measures have been established. These genotypes are called actionable genotypes. The scientists used a population data set, consisting of 58,000 Icelanders with complete genome sequences, to assess the fraction of individuals carrying actionable genotypes.
Using a list of 73 actionable genes from the American College of Medical Genetics and Genomics (ACMG) guidelines, the scientists found that 4% of Icelanders carry an actionable genotype in one or more of these genes. Among the diseases caused by these genotypes are cardiovascular diseases, cancer and metabolic diseases.
The study evaluated the relationship between actionable genotypes and the life expectancy of their carriers. The greatest effect was observed among carriers of cancer-predisposing genotypes, whose median survival was three years shorter than that of non-carriers. A pathogenic variant in BRCA2, which predisposes to breast, ovarian and pancreatic cancer, shortened life expectancy by seven years, and a variant in LDLR, which causes high cholesterol levels and cardiovascular disease, shortened life expectancy by six years . According to Patrick Sulem, author of the article and scientist at deCODE genetics, "our results suggest that the actionable genotypes identified in our study, all of which cause serious diseases, can have a dramatic effect on life expectancy."
The results showed that carriers of certain actionable genotypes were more likely to have died from the disease caused by these genotypes. Individuals with a pathogenic variant in BRCA2 have a seven-fold increased risk of dying from breast, ovarian or pancreatic cancer.
In addition, they are 3.5 times more likely to develop prostate cancer and 7 times more likely to die from this cause than those who do not carry the variant.
The researchers determined that 1 in 25 individuals carried an actionable genotype and had, on average, a shorter life expectancy. "Identifying and revealing actionable genotypes to participants can guide clinical decision-making, which can result in better outcomes for patients. Therefore, this knowledge has significant potential to mitigate the burden of disease for individuals and society as a whole," said Kari Stefansson, author of the paper and CEO of deCODE genetics.
Headquartered in Reykjavik, Iceland, deCODE is a world leader in the analysis and understanding of the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases. The goal of understanding the genetics of diseases is to use that information to create new means of diagnosing, treating and preventing diseases. deCODE is a wholly owned subsidiary of Amgen (NASDAQ: AMGN).
Three authors of the article, Kari Stefansson, Patrick Sulem and Brynjar O Jensson.
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