New gene map revealed

The deciphering of the human genetic map continued to gather pace last night as an international team published a "map" of genetic variations.

The map, based on more than 1,000 healthy people, seeks to identify systematic differences in individual human genes.

It has been drawn from the genes of people from Europe, the Americas and East Asia.

Its authors, based in Europe and the USA, say it could have a range of uses.

These include helping to identify genetic variations which help keep people healthy as well as making them vulnerable to disease.

It is also likely to be used to study how human migration has led to the mingling of genes.

Known as the 1,000 Genomes Project, a summary of findings was published in Nature last night.

The map shows that most people carry a handful of rare genetic variants that could cause disease if combined with a second copy.

Researcher Jan Korbel, of the European Molecular Biology Laboratory, Heidelberg, Germany, said: "This integrated view of genome variation will be extremely useful for understanding cause and consequence, and hence provide an invaluable context for future medical studies.

"When people find a SNP – a single letter change – that’s associated with a disease, they can now see if there’s a change in a larger chunk of the genome that’s always inherited alongside that SNP, and could cause the disease."

Dr David Altshuler, an endocrinologist at Massachusetts General Hospital, Boston, USA, said: "With this project, we have succeeded in making sure that information about our shared genetic heritage, and the common DNA variants we carry, are freely available for researchers to use to benefit patients around the world.

"Moreover, the tools and methods that this project has helped foster are being used now in disease-oriented genetics research and will be used increasingly in clinical care."

Professor Gilean McVean, of Oxford University, UK, said: "Project researchers discovered that each person carries a handful of rare variants that would currently be recognised as disease-causing and a few hundred more rare variants that are likely to have a detrimental effect on how genes work.

"It’s fortunate that most of us usually carry only one copy of these variants since two copies might lead to disease."

* Meanwhile a row erupted in the European Journal of Human Genetics over claims that private companies are amassing "vast quantities" of clinical data without sharing it.

Dr Robert Cook-Degan, a former member of the US Office of Technology Assessment, names Myriad Genetics, providers of the BRCA1/2 genetic test in the USA.

Professor Martina Cornel, of the European Society of Human Genetics, said she was "very concerned" about the report.

She said: "It is vital that progress towards personalised medicine, which holds out so much promise, is not hindered by companies maintaining private genomic databases."

The 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature, 1 November 2012.

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