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Beyond 1M Genomes Project Releases Recommendations to Guide European Genomic Data Initiative


NEW YORK – The Beyond 1 Million Genomes Project has developed an assessment tool and guidelines to support European efforts to make at least a million human genomes available across the region in a secure way to researchers and specialized healthcare professionals.

B1MG is an EU-funded effort that commenced in June 2020 and will run through May 2023. With a budget of €4 million ($4 million), the project coordinates the European 1+ Million Genomes Initiative (1+MG), which aims to connect genomic data resources in various European countries and set guidelines and best practices to harmonize data access and use in research and healthcare.

The 1+MG initiative was announced in 2018, when more than a dozen European countries signed a declaration to have a million genomes sequenced and accessible by 2022. Since that time, 24 countries, including 22 EU member states as well as Norway and the UK, have signed. It is unclear, however, how many genomes that will be part of the initiative have been sequenced so far.

B1MG has been working on solving legal challenges, standardizing and harmonizing sequencing and clinical data, and working around language issues, considering the dozens of languages contained in electronic health records in the EU, all to achieve the goal of 1+MG: genomic data accessibility and interoperability across Europe.

It recently introduced an assessment tool, called Maturity Level Model (MLM), which healthcare systems can use to evaluate the way they practice genomic medicine according to common parameters.

According to B1MG, the creation of the model involved a literature review, interviews with various 1+MG and B1MG working groups, and a survey of experts with a background in genomic medicine. Since March, the MLM has been piloted in several national and regional healthcare systems in 10 EU member states since March, with results expected later this year.

According to Astrid Vicente, a senior researcher at the Instituto Nacional de Saúde Doutor Ricardo Jorge in Portugal taking part in B1MG, the plan is to publish on the development of MLM and the pilot results, and to issue recommendations for adoption of the tool.

Vicente described the model as a framework for countries to assess their use of genomics in their healthcare systems across standards in multiple domains: governance, ethics and legislation, investment, communication with the public, training of health professionals, following of technical guidelines, and implementing standards for genomic data, sequencing, and clinical data.

Vicente said that participating countries are expected to make use of the MLM and that different stakeholders in healthcare systems are supposed to assess how far they have come and how to connect their national efforts to those of other countries.

"Our long-term goal here is to fill the gaps across European countries in terms of generation and use of genomic data for healthcare," she said. "A common matrix to support the adoption of genomic medicine in European healthcare systems, according to the same standards, is therefore fundamental to achieve a homogeneous result," she said.

B1MG also recently released recommendations based on the examples of three countries with established genomic medicine programs taking part in the 1+MG project: the UK, Estonia, and Finland. These revolve around patient and citizen engagement, infrastructure and regulation, training and capacity building, and sustainability and industry involvement.

The document highlighted Estonia's patient and citizenship engagement activities, noting that the country has developed its strategy during decades of communication campaigns, which have involved domestic opinion leaders, advertising, and even referencing genomics in TV shows. The country maintains a national biobank, genomic data from which has been used to inform personalized medicine projects.

B1MG recommended in the brief that countries establish similar communication campaigns to inform and engage citizens, and that patient trust should be won early and maintained throughout the implementation of a genomic medicine strategy. Patient groups should also be represented in governance of such a strategy and compensation factored into associated budgets.

B1MG also drew attention to the work of Genomics England and the UK National Health Service in setting data access and sharing policies. They noted that the Genomics England Data Center is a secure facility located within the NHS firewall that stores genomic and other patient-related data.

The project recommended that national genomic medicine strategies support an infrastructure with centralized governance and an ethical and legal framework for data collection and use, and that they invest in digital technologies and services.

B1MG also singled out the UK as an example of training and capacity building, noting its Genomics Education Program for healthcare professionals, and recommended training the existing workforce while cultivating new professionals.

For building a sustainable ecosystem for genomics in healthcare, B1MG cited the experience of FinnGen, a public-private project, where Finnish biobanks have been cooperating with 12 pharma companies. Part of that study, which commenced in 2017 with an initial budget of €59 million, involves the genotyping of half a million Finns.

According to Niklas Blomberg, director of ELIXIR and an investigator taking part in the B1MG project, the new MLM tool and policy brief should help to achieve efforts to harmonize genomic medicine efforts across the region, in line with the aims of the 1+MG initiative. ELIXIR, the European Life Sciences Infrastructure for Biological Information, is an intergovernmental organization that supports European life sciences resources.

"If you look at Europe, there is diversity," said Blomberg. "Some countries are really advanced when it comes to genomic medicine and have national strategies and everything in place, and others have a lot of work to do," he said. "This is why this maturity model is so important. It will allow countries and institutes to assess how far they have come."

The policy recommendations also aim to help decision makers set a roadmap for the development of genomic medicine in their countries, making sure investments happen and in the right areas. "These policy briefings are really important," said Blomberg. "Otherwise, we will have 27 different silos for genomic medicine in Europe."

Rather than creating a single data lake, where all the data will be consolidated and searchable from one resource, Blomberg said the goal in Europe is to create a federated infrastructure where data is maintained at the country level but can be accessed and queried from anywhere in the region once permission is granted to the authorized user.

"It is not meant to be a central lake, where all data is available," underscored Juan Arenas Márquez, head of the project management unit at ELIXIR. "It is meant to be a fully federated infrastructure where you will be able to ask for access via one click and then be able to get your results back, or if the data is public access, then you can download it."

Blomberg said that the new MLM and recommendations are another step toward realizing the goals of the initiative. "These things are starting to come together," said Blomberg. "The policy brief and maturity model are part of the steps to scale up the current efforts and make them sustainable in the upcoming years."