A new genetic sequence which seems to pose a major risk of developing Alzheimer’s is among the findings of a landmark, population-wide genomics study in Iceland.
The finding is described in one of four scientific papers published in Nature Medicine which provide some of the first indications of the power of the initiative, which is being spearheaded by Amgen subsidiary deCODE Genetics.
The project has been ongoing for years and has now collated whole-genome sequence data from more than 100,000 people – out of Iceland’s total population of about 323,000 – which can be linked to family trees to see how genes behave across generations.
The work provides invaluable insights into “the history of our species and for contributing to new means of diagnosing, treating and preventing disease,” said deCODE founder Kari Stefansson, who told the BBC that the company now has the ability to find all the women in Iceland with the BRCA breast cancer mutation “at the touch of a button.”
The data is currently anonymised, so moving to that next step will require considerable debate about how this sort of data can be used – something that is also a major consideration of other national genomics programmes such as the UK’s 100,000 genomes project and the recently-started Precision Medicine Initiative in the US.
“This is very much more than a molecular national selfie,” he stressed, pointing out that the research is already helping to find more accurate diagnostics for rare diseases and identifying new risk factors and drug targets.
Among the other findings of the programme is the identification of more than a thousand human ‘knockout’ cases – in which genes have been switched off due to rare mutations – which can be used to study their role in health and other traits.
A study of the Y chromosome has also provided an estimate of the last common ancestor of all humans by looking at the rate of mutation in the male Y-chromosome, while other findings include mutations that seem to predispose people to develop atrial fibrillation as well as liver and thyroid disease.
“These results provide a strategy for the analysis of the full spectrum of genetic variation in any population and raise questions about how society should implement the knowledge gained,” says a lead editorial in Nature Genetics.