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.

Friday, April 10, 2015

Nature journals go for double-blind review option – only science should count

The international highly recognized Nature journal (impact factor of 42 in 2013) has announced to offer double-blind reviews. The situation so far is that authors submit their paper, an editor rates the content and either rejects the paper or will forward it to a reviewer. The reviewer will comment to the paper anonymously whilst knowing the author’s identity.

With the double-blind approach the authors can demand that their names and institutions will not beshown to the reviewer. The aim behind offering this possibility is a good one. Without knowing the author’s identity prejudices and discrimination should be circumvented – only science should count.

While the pursuit of a more fair review process is welcomed by the research community, skepticism arises with regard to the question if the double-blind approach is the best solution. Some people argue that double-blind can only work if it is mandatory and not optional. They say that “big fishes” will always show their name while authors that are not working in well-known institutes are suspected to hide something then they go for the double-blind option. Other people are of the opinion that double-blind is the wrong way. In fact, fully open reviews are the method of choice in their eyes.

However, Nature will start with this project in March 2015 and we from BMG LABTECH think that it is worth a try and should be tested for a couple of months. Like in every research experiment a certain number of tests need to be done to have a statistically approved result.