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Shining a light on international collaboration in genomics: 1+ Million Genomics Initiative

As the 1+ Million Genomes enters a new phase, it serves as a key example of how countries can collaborate to share their experiences and challenges in rolling out genomics within their healthcare systems.
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– By  Ísla O’Connor  –

The 1+ Million Genomes (1+MG) Initiative is a Europe-based endeavour to ensure secure access to genomic and clinical data across Europe to boost personalised medicine and innovation. 24 countries across Europe became signatories of this initiative, pledging their involvement and signing up to a set of objectives, including:

  • Making appropriate technical infrastructure available across the EU, to ensure secure, federated access to genomic data
  • Clarifying the ethical and legal implications of the cross-border availability of genomes and ensuring their consideration in an implementation
  • Ensuring the general public and policy makers in Member States and signatory countries are well informed about genomics in order to ensure its uptake by healthcare systems

The year 2022 marks the point at which the initial design and testing phase of this initiative ends and the scale-up and sustainability phase commences and continues until 2027.

Entering a new phase in genomics

As a horizon project of 1+MG, the Beyond 1 Million Genomes (B1MG) project was set up to co-ordinate and support 1+MG in addition to creating prerequisites for a virtual cohort of genetic and clinical data across Europe and a long-term data infrastructure for providing access to data, on more than 1 million sequenced genomes (whole, exome and panel).

The three primary objectives of B1MG are as follows:

  1. To work with regional, national and European stakeholders to define the requirements for cross-border access to genomics and personalised medicine data
  2. To translate requirements for data quality, standards, technical infrastructure, and Ethical Legal and Social Issues (ELSI) into technical specifications and implementation guidelines
  3. To drive adoption of new infrastructure, provide guidance on development and economic impact in order to support long-term implementation

1+MG and B1MG have, to date, fostered collaboration between nations at speed and scale, allowing countries with established genomics infrastructure to participate in the scaling up of genomics infrastructure around Europe, promoting the exchange of ideas and expertise while continually engaging with policy and ethics. B1MG has developed a Maturity Level Model (MLM), which serves as a framework for countries to understand their level of maturity and align their progress in adopting genomic data within their healthcare systems.

To create an effective MLM, input from expert policy makers, legal aids, health professionals and managers from signatory countries was considered regarding best practice standards for genomics in healthcare. This allowed the development of a review framework for healthcare systems to evaluate effectiveness against these standards, to identify areas of improvement and to devise strategies for implementation.

To learn about challenges and solutions for implementation of genomics in healthcare, B1MG organised a series of Country Exchange Visits to the United Kingdom, Finland and Estonia to learn how they have implemented personalised medicine to date. These countries were chosen as hosts due to their highly developed genomics infrastructure and provide best practice examples to other participating nations. At these visits, flash talks were given by representatives from other signatory countries including Belgium, Bulgaria, Denmark, Hungary, Latvia, Lithuania, Portugal, Spain and Sweden.

Reducing barriers to action

These visits shed light on the primary barriers to achieving collaborative data sharing between nations, allowing this working group to focus their efforts on addressing barriers that are applicable to many, if not all, participating nations as they attempt to realise the goals of 1+MG. A policy brief was drawn up summarising these barriers as described over the course of the country visits, citing the below as the key issues for implementation:

Patient and citizen engagement: trust and understanding are essential to facilitate engagement with genomic medicine, to procure informed consent for data sharing and to accept genomic medicine as a component of the healthcare system. The following was recommended:

  • Information programmes and communication campaigns to engage and inform citizens
  • Patient trust and willingness to participate should be monitored
  • Involve patient groups in all decisions and steps of strategy implementation
  • Ensure patient representation at the governance level of genomic efforts

Infrastructure and regulation in healthcare systems: not only is high-quality data essential to the success of genomics within healthcare, but safe and secure access to this data is essential and requires secure infrastructure to do so. The following was recommended:

  • Infrastructure with centralised governance and a robust ethical and legal framework must be created
  • Adequate investment in secure digital technologies and services is essential
  • Political and multi-stakeholder support is required, and should be facilitated through inter-departmental collaboration and inclusion of stakeholders across implementation stages
  • A standard genomic and health data management plan is required to facilitate data sharing at regional, national and international levels

Training and capacity building: to deliver genomics within healthcare to a high standard, specialist workforce is required. The following was recommended:

  • Tailor genomics programmes, providing online training for professionals with no or limited knowledge, testing and certifying their new knowledge and developing competency frameworks to assess the needs of existing workforce
  • Invest in developing genomics professionals (e.g. genetic counsellors and clinical geneticists), in addition to new professions, such as medical informaticians
  • Define the roles of these and other professionals

Building a sustainable ecosystem for genomics in healthcare: this focuses on the importance of collaboration between healthcare, industry and research for the benefit of society, healthcare and the health economy. The following was recommended:

  • Involve all stakeholders in discussing the legal framework required to promote innovation, foster trust and avoid data misuse
  • Create an umbrella structure to allow all stakeholders to share knowledge and support, in addition to coordinating research and clinical outcomes
  • Include industry input when conducting health economic evaluations
  • Embrace enablers of genomic medicine through legislation and government support

By giving a forum to Estonia, Finland and the United Kingdom, B1MG has provided a unique opportunity to the signatory European countries, whereby those with more established genomics ecosystems and infrastructures can share their expertise. B1MG is facilitating the exchange of information between countries, so that all signatories can benefit from the resources and experience of others and propel their genomics medicines initiatives forward at speed.

Because of this scale of collaboration, the findings from B1MG work have shed light on the barriers impacting most if not all jurisdictions as they aim to scale up their genomics infrastructure, allowing for all countries to work together to find solutions that not only benefit all stakeholders but all countries in their genomics rollout.

1+MG and B1MG recognise the importance of cross-sectoral involvement in achieving greater public trust, government and political support, implementation within healthcare and industry and research collaboration. This interdisciplinary approach also includes the ethical, legal and social implications of genomics and data sharing, which is essential to improve public engagement and trust, in addition to political support.

The approach of the 1+MG initiative is unique in the scale of its collaboration and serves as a key example of how countries across continents can come together to share their experiences and challenges in rolling out genomics within their healthcare systems.

Over the course of two years, Public Policy Projects has grown its Global Genomics Network, which aims to facilitate the exchange of ideas in a policy context. To date, it has done so by connecting representatives from countries in the infancy of their rollout of genomics within healthcare with representatives from countries with a more established genomic healthcare infrastructure.

The need for the work of 1+MG/B1MG is apparent from discussions among this network, where countries start from scratch in their implementation of genomics and encounter the same obstacles as many jurisdictions before them. Fostering a collaborative environment within genomics at a global scale has the potential to optimise the implementation of genomics in healthcare, reducing the time and resources needed for its rollout and providing patients with earlier access to personalised medicine.

This article was authored by ĺsla O’Connor, Policy Analyst at Public Policy Projects, following a meeting held on 5th May 2022 between PPP and 1+MG coordination group members.

Support for this article has been provided by: Kate Orviss and Mark Bale (PPP) and, Ruben Kok, Astrid Vicente, Giselle Kerry, and, Serena Scollen (1+MG).

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