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Iceland genome study predicts DNA of entire nation

30 March 2015

By Meghna Kataria

Appeared in BioNews 796

Scientists in Iceland have produced a comprehensive portrait of the nation's genetic makeup.

In the process, the team have uncovered several new gene mutations linked to disease as well as revised the estimated age of the most recent male ancestor of all humans.

Researchers from the Icelandic company deCODE Genetics, which is owned by Amgen (see BioNews 686), completed whole-genome sequencing of 2,636 volunteers.

They were able to extrapolate, or 'impute', the genomes of a further 104,220 individuals - a third of Iceland's population - by cross-referencing partial sequence information with the country's impeccable genealogical records. The results, published across four papers in Nature Genetics, have revealed genetic contributors to Alzheimer's, liver, thyroid and heart disease.

'By using these tricks we can predict, with substantial accuracy, the genome of the entire nation,' lead author and deCODE CEO, Dr Kari Stefansson told BBC News.

Iceland's near-perfect, centuries-long records on genealogy, coupled with a near lack of immigration and ability to access the national medical records of the volunteers made it a treasure trove of information for the geneticists. In particular, this homogeneity of population - free from background 'noise' - made it much easier to discover rare disease-causing genetic mutations.

For example, by combining hospital records with genome sequencing data, the team found that a mutation in a gene MYL4 strongly correlated with early-onset atrial fibrillation, a heart condition that causes an irregularly fast heart rate.

'It's really the completeness of the information - the sequencing data, the clinical information, the phenotypical data, the drug reaction data - that lets you tie it together,' Dr Lisa Brooks of the US National Human Genome Research Institute told Wired.

Among the group's findings was the increased prevalence of a BRCA2 gene mutation in Iceland, which confers a sharp rise in the risk of developing breast and ovarian cancers. The researchers estimate that about 2,000 men and women in the country carry the mutation.

Since current laws governing research instruct complete anonymity and prohibit the company from alerting the affected individuals, a debate about the ethical implications of the findings has ensued.

'We could, in Iceland, at the push of a button find all women who carry mutations in the BRCA2 gene,' Dr Stefansson told the BBC. 'It would be criminal not to take advantage of it and I am convinced that my fellow countrymen will begin to use it pretty soon.'

He added that he is now in discussions with Icelandic officials about what steps to take next.

BBC News | 26 March 2015
Mail Online | 25 March 2015
Nature Genetics | 25 March 2015
deCODE (press release) | 25 March 2015
New Scientist | 25 March 2015


22 February 2016 - by Dr Ashley Cartwright 
A new blood test has been developed that can accurately detect all genes known to cause inherited heart conditions, say scientists...
21 September 2015 - by Dr Lanay Griessner 
Decades of advice on the protective effects of omega-3 fatty acids are being challenged by a study of the genomes of the Inuit population in Greenland...
27 July 2015 - by Isobel Steer 
In a rare and high-profile scientific dispute, two recent genetic studies have reached opposing conclusions on the origins of Native Americans...
15 June 2015 - by Paul Waldron 
The modern European and Central Asian gene pools are the result of mass migrations during the Bronze Age, according to a new analysis of ancient human remains...
20 April 2015 - by Meghna Kataria 
This podcast by the Guardian's Science Weekly features an interview with Professor Peter Donnelly from the University of Oxford. As a part of the People of the British Isles project, his team has just mapped the DNA of 2,039 Caucasian Britons from all over rural UK revealing new insights into what it means to be British...

16 March 2015 - by Hannah Somers 
Three British men have been diagnosed with rare diseases after having their complete genomes sequenced as part of the UK-based 100,000 Genomes Project...
16 March 2015 - by Kirsty Oswald 
Scientists plan to study the genetics of 100,000 people living in East London to try and uncover why south Asian people are more vulnerable to certain health problems...
17 December 2012 - by Holly Rogers 
The US biotechnology company Amgen will buy deCODE Genetics, which provides products and services for genome analysis, for $415 million...
25 January 2010 - by Nishat Hyder 
The pioneering genetics research company, deCODE, reemerged last week as a private company with new financial backing. Based in Reykjavik, Iceland, the original company deCODE Genetics, Inc led the way internationally in genetic testing and diagnostics for over a decade. With unique access to genetic information from Iceland's isolated population, the biotech firm has made important discoveries, such as identifying gene variants associated with common conditions ...

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