Thursday, April 16, 2015

Iceland: a sequenced nation

An Icelandic company (deCODE) has sequenced the genome of more than 100,000 Icelanders, according to papers in the renowned scientific journal Nature Genetics. Why Icelanders? Well, it appears that Iceland offers optimal conditions for population genetics as it is a relatively isolated island with a relative small population (around 320,000 inhabitants) that has been isolated for a fairly long time.

The four published papers present highly detailed DNA-based population studies and contain the largest set of human genomes obtained from a single population to date.

In fact, the papers report interesting insights into the evolution, gene function, mutation and disease predisposition that could prompt a new approach to population-based analyses of genetic variations. In particular, human knockouts, increased Alzheimer’s disease risk caused by a loss of function, mutation and Y-chromosome point mutation rate were identified in the Icelandic population.

The four papers are linked here:

Although groundbreaking, this approach carries some ethical issues. The biggest question is whether Icelanders carrying health-threatening mutations should be contacted by the researchers or their physicians in order to check their health status and hopefully increase their life expectancy and outcomes. On one hand this approach will violate their privacy. On the other, to do nothing despite knowing that a patient is at high risk for a specific disease would also be ethically dubious.

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