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European Initiative: transnational access to at least one million human genomes

Human genomics is undergoing a step change from being a predominantly research driven activity to one driven through health care organizations. It is predicted that in the near future the healthcare industry will be the main producer of such data.

Our understanding of the human genome is recognized as a primary factor for improvement in health care. To maximize the value of the genomic data generated, it will need to be shared between institutions and across countries.

ELIXIR published a paper in highly appreciated Nature Reviews Genetics last week that explores how European research infrastructures can be leveraged to facilitate transnational access to at least one million human genomes. This is building on the recently declared European ‘1+ Million Genomes' initiative signed by 21 European countries, which is targeted for completion by 2022. 

Finland is one of the signed counties and CSC as ELIXIR Finland node participates to this project.

– We are casting CSC as the Finnish ELIXIR node to be a genome data management infrastructure. The CSC´s forthcoming sensitive data services are a response to this challenge and in this paper they are presented as part of the European service, said Ilkka Lappalainen, one of the authors of Nature Reviews Genetics article. Lappalainen is a development manager at CSC.

In the paper Leveraging European infrastructures to access 1 million human genomes by 2022 the authors detail challenges, opportunities, and recommendations around accessing whole-genome level sequencing data, as well as phenotypic and biomolecular data across country borders, without compromising on data security.

– Thanks to technological advancements in recent years, DNA sequencing is now affordable and has many applications, said Gary Saunders, Human Data Coordinator at the ELIXIR Hub, and lead author of the article.

– Our paper describes the challenges in storing and accessing human genomic data across national boundaries and promotes recommendations to support the application of these data to routine clinical practice.

Photo: Adobe Stock

Further links:

Nature Reviews Genetics: Leveraging European infrastructures to access 1 million human genomes by 2022

ELIXIR: European infrastructures lay the foundation for secure access to genomics data

ELIXIR Finland pages

ELIXIR www-pages

European ‘1+ Million Genomes' initiative