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European Advanced infraStructure for Innovative Genomics

Periodic Reporting for period 1 - EASI-Genomics (European Advanced infraStructure for Innovative Genomics)

Reporting period: 2019-02-01 to 2020-07-31

Over the past 20 years, few other scientific fields have witnessed an innovation spree comparable to that of genomics. The field of genomics is characterized by rapid technological and methodological developments, high cost of equipment, and a highly specialized level of expertise required in sample preparation as well as analysis of results. Due to these multiple constrains, researchers often lack access to cutting-edge sequencing technologies while genomics infrastructures concentrate the technological capacity and high level of expertise in this domain.

In the context of the generalization of genomics in healthcare and the imminent advent of personalized/precision medicine in Europe, the scientific community will tremendously benefit from leveraging the expertise and capacity of national genomics facilities. Access to the latest genomics technologies and analytical expertise will certainly accelerate scientific discoveries and improve the competitiveness of the research community.

The mission of EASI-Genomics is to provide easy and seamless access to cutting-edge DNA sequencing technologies to researchers from academia and industry covering the entire experimental cycle from study design to the interpretation of results. To achieve this goal, 11 state-of-the-art European genomics platforms regularly organise calls for proposals to offer transnational access to the research community and provide comprehensive support to access projects. Moreover, altogether the 16 partners of EASI-Genomics collaborate on research and networking activities to define new genomics standards, develop and integrate new laboratory and computational methodologies and develop a framework for ensuring ethical, legal, and societal highest standards. Eventually, EASI-Genomics is developing a powerful collaborative European infrastructure in genomics available to the research and industry community.
During the first reporting period, EASI-Genomics launched two transnational access calls and one extraordinary call in response to the COVID-19 pandemic. Through these calls, EASI-Genomics received 159 applications and awarded access to 72 research projects for a total budget of 3.8 million Euros. Twenty-six projects are currently being analyzed by facilities and 3 projects are completed. In parallel, EASI-Genomics has developed and set up a comprehensive legal and ethical framework of access to genomics services for these calls. Meanwhile, networking activities have focused on the regulatory processes for acquiring biological material that will be used for interlaboratory comparison and definition of genomics standards for cancer mutations. EASI-Genomics set up a procedure for technology watch and analysed the answers of more than 220 users to a questionnaire on the needs and interests of the research community. EASI-Genomics also developed several new laboratory methods and computational frameworks for data analysis. Finally, a full training programme was defined for EASI-Genomics to equip researchers with basic as well as specialized knowledge on genomics to empower users in their approach to producing and handling genomics data.
The EASI-Genomics consortium provides first-in-class access to state-of-the-art analysis for projects requiring genomics, starting from study design, over sequencing to bioinformatics analysis. It established and consolidated procedures for transnational access calls, covering the publication of calls, reception of proposals, reviews, consolidation of reviews, notification, ethics checks, MoUs, and MTAs. During the first reporting period, EASI-Genomics launched 2 TA calls granting access to 65 researchers from all across Europe and beyond. More than 50% of the projects from the 1st TA call are at or beyond the sequencing stage, and data analysis is ongoing for several of them. We expect results and scientific publications in the coming months despite COVID-19 related delays. Besides, in response to the COVID-19 pandemic and to contribute to the societal collective effort, EASI-Genomics launched an Extraordinary call for research projects related to COVID-19 in May 2020. It awarded 7 projects that will be key in deciphering the genetic predisposition behind severe forms of COVID-19 among a relatively young population with no or few pre-conditions and co-morbidities. Furthermore, harmonization and benchmarking activities for developing cancer genomics standards are currently ongoing as well as the development of several new laboratory methodologies. Active efforts in technology watch, education of the research community, wide dissemination of the TA calls, and stakeholder engagement are geared toward the evolution of EASI-Genomics into a European Research Infrastructure.