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Master multi-stakeholder collaboration, and it will be possible for the EU to master genomic data sharing




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Close collaboration across national borders and reciprocal consultation with stakeholders have to be at the very centre of systemizing the contribution of genomic data to the development of personalised medicine. How to achieve this was the focus of discussion at the virtual kick-off conference with stakeholders of the European plan to improve citizens' health and boost medical research with the Beyond 1 Million Genomes project, writes European Alliance for Personalised Medicine (EAPM) Executive Director Denis Horgan.

The European 1+ Million Genomes (1+MG) initiative is the EU's answer to some of the most pressing challenges in developing the potential of genomics more fully. The insights that genomics offers are not only transforming approaches to medical research; they are also increasingly enriching clinical operations and informing personalized medicine.

 But exploiting the ability of genomics to deliver earlier diagnosis, more effective prevention programmes and more precise targeting of therapies depends crucially on data. To capture the full benefits of genomic data, it must be shared with multiple actors:  researchers to support academic and clinical research; health providers to support delivery of health services and public health activities; and commercial organizations involved in developing and implementing new health technologies or delivering health care services. This in turn raises numerous logistical questions about data acquisition and exchange, and important ethical, social and legal issues (ELSI) relating to the treatment of data

In these conspicuously sensitive areas, the conference underlined the need for developing wider links across the healthcare community, for careful development of the necessary mechanisms and safeguards, and for achieving the right balance in generating common approaches across borders while still respecting national, local and private interests. 

The discussions and recommendations of the stakeholders at this kick-off conference in late 2020 take on particularly topical relevance in the current context, as the EU forges ahead with its plans for the joint development of the European Health Union and the European Health Data Space, with their own emphases on collaboration. And equally significantly, the conference discussions also reflect the spirit of collaboration that has been intrinsic to this project from its very origins. 

The role of B1MG is to establish the support and coordination structure for the quintessentially joint European 1+ Million Genomes (1+MG), the cross-border federated network for sharing data from national genome collections. And 1+MG itself arose from a multi-stakeholder initiative created, led and organised by a stakeholder organisation, the European Alliance for Personalised Medicine, which acted as a bridge, working closely with the European Commission and European Parliament as well as Member States and other stakeholders. 

Thus from the outset this exercise has been truly stakeholder driven.


Consequently, this B1MG stakeholders kick-off conference featured healthcare professionals, researchers, decision makers, patient organisations, and European umbrella groups representing associations and initiatives engaged in personalised medicine. Europe is uniquely placed to position itself as a global leader in genomics and personalised medicine, because of its capacity to harness its critical mass of 27 Member States and the scientific and technological expertise and assets they possess at local, regional and national level. The participation at this kick-off conference exemplified the approach to ensuring that stakeholders remain at the centre of B1MG's activities, with its plans for an effective Stakeholder Coordination Group and Stakeholder Forum.

The importance of links

The range of links that have been built up in this stakeholder approach was saluted by all participants, who underlined the importance of working together on this common approach. Daria JulkowskaCoordinator of the European Joint Project on Rare Diseases, fully endorsed the concept and indicated willingness to integrate into the project. She proposed that rare diseases might provide a valuable case study, through its existing strong connections with the healthcare community across Europe, and particularly through its links to the European Reference Networks and their 900 healthcare units across the member states. The EJP RD was already constructing an ecosystem for rare diseases through federated systems including genomic data and biosamples, and was working in the ethics and regulatory space to facilitate creating of the registries so that data can be used in research. The idea of integrating RD into B1MG was welcomed by the meeting.

Francesco FlorindiStrategy and Partnership Manager of BBMRI-ERIC, similarly expressed interest in providing support to the project through its 600 biobanks in 20 European countries, facilitating access to over 1 million samples and data. This could, he suggested, bring in expertise on FAIRification of data, standards, interoperability, and ELSI. He also favoured reaching out to healthcare as well as to research. He recognised, however, that there are complications in sharing and protecting data that do not apply so acutely in respect of samples, and he looked forward to collaborating on the search for solutions.

Lydia MakaroffCEO of Fight Bladder Cancer, welcomed the project's recognition of the importance of citizen engagement: "Patients and privacy need to be at the centre of this," she said, since patients are custodians of their medical records and have the right to show them to their choice of clinical provider. She applauded the intention of B1MG project to  help to build good legal, ethical, and logistical foundations to enable the sharing of data and to create related best practices, in the interests of ensuring that every patient gets the best treatment at the right time.

Tit Albreht of the Joint Action on Cancer noted that the Covid pandemic had generated greater interest in genomics and had motivated moves towards its increasing use in personalised medicine. Denis Hogan of EAPM, chairing the conference, remarked that the role of the Joint Action on Cancer was crucial in guiding the project towards links with national cancer plans. And Albreht saw an opportunity that should be seized in the creation of a cancer knowledge centre at the European Commission's Joint Research Centre.

Mario RomaoGlobal Director of Health & Data Policy at Intel, noted that "a long political journey" had preceded the attainment of this point in collaboration, and applauded the approach the project was taking to the technical infrastructure that would be needed so that data governance could build trust and secure data privacy while permitting researcher access to data.

Virginie Bros-FacerScientific Director of EURORDIS also emphasised the importance of gaining trust from consultation to provide the reassurance that can encourage patients and the general population to share their data for research. Dirk LanzerathSecretary General of EUREC, pointed to the need to bring research ethics committee into the picture, and to reflect with them who would have access to the data.

Thomas KeaneTeam Leader of the European Genome Phenome Archive and of Archive Infrastructure at EMBL-EBI, said it was "great to hear that B1MG/1+MG is looking to leverage EGA."  Ejner MoltzenChair of ICPerMed, also indicated support could be forthcoming from ICPermed's "unique collaboration among its 40 member organisations, including funding agencies, ministries, and public policy organisations." There were already close links to B1MG, he added, through overlaps in membership. Astrid Vicente, Coordinator of the Department of Health Promotion and Prevention of Non- communicable Diseases Principal Investigator at the Instituto Nacional de Saude Doutor Ricardo Jorge, insisted on the importance of wide collaboration in developing the project, which will need input from national and regional healthcare systems.

Constructing with care

The evident enthusiasm for engaging in the project was matched by general insistence on the need to move with sensitivity in planning the next steps – a point that Julkowska emphasised. Or as Anna Middleton of the Wellcome Trust Sanger Institute and the "Your DNA, Your Say" Project, expressed it, "There will be many different stakeholders, and everyone must be careful so as to get the best out of this collaboration." Lanzerath echoed the sentiment: "Winning trust from consultation is not easy." Keane noted that it had been a multi-year challenge to scale up to 1+MG – and would continue to be so.

The wide range of regulatory agencies across Europe and internationally was highlighted by Dr Joaquin MateoPrincipal Investigator in the Prostate Cancer Translational Research Group, at Vall d’Hebron Institute of Oncology, who is also Chair of the European Society for Medical Oncology Translational Research and Precision Medicine Working Group. It cannot be assumed that they and other national and regional authorities are all fully comfortable with the changes that genomics and personalised medicine imply for healthcare delivery, which requires ensuring that each of them is treated with due attention. Moltzen counselled that since the numerous challenges cannot be solved immediately and simultaneously, there will be a need to run different types of projects and go step by step, bearing in mind that ultimately politicians will have to be involved to put new policies in place.

At the forefront of everyone's mind at the conference were the identifiable current gaps, both in terms of logistics and of adequate and appropriate communication with and among the many stakeholders who will need to come on board and remain on board.

Filling the logistics gaps

The gaps are numerous in terms of infrastructure, data acquisition and sharing, standards, and operability, with questions outstanding too on issues of quality. 

There is no centralised sequencing facility in Europe, observed Andres MetspaltuProfessor of Biotechnology and Head of the Estonian Biobank in the Institute of Genomics of the University of Tartu, arguing that in order to implement personalised medicine, we need more data, and the initial target of 1 million genomes is a good reference point. But it is necessary also to set standards for minimum quality for all facilities for sequencing, existing and new. Clear understanding is vital of how the samples are being acquired by the facilities, and pre-sequencing information is required too, for which standards must also be agreed. The challenge, he said, will be to ensure all countries have the same approach, standards, and technology to ensure everyone benefits from genomic medicine. For Mark CaulfieldChief Scientist at Genomics England, the future lies in federation of data: "You can never have enough clinical data on patients - the more clinical definition you have, the more likely to get a diagnosis," he said. And Julkowska suggested that to establish a real federated space to share genomic data, a bridge will have to be crossed in going from the national to the international level, which underlines the importance of standards set across Europe.

Gennaro Ciliberto, Scientific Director of IRCCS's Istituto Tumori Regina Elena in Rome offered the experience of the Alliance against Cancer, as indicative of how to approach issues of quality and interoperability of data, through tumour specific studies, joint work on  pathology and informatics, and agreeing an infrastructure for molecular and clinical outcomes in addition to genomic. Ilkka LappalainenBiomedical Service Development Manager at the CSC – IT Center for Science, suggested that seeking common ground across use cases was a valuable method to develop interoperability, with a focus on ensuring that the infrastructure is built in an ELSI-compliant way. And as Denis HorganExecutive Director of the European Alliance for Personalised Medicine pointed out, one of the current unknowns is how to develop the ecosystem of trust with interpretation of the EU's General Data Protection Regulation still varying from country to country. 

Filling the communication gaps

Success will also depend on finding the right forms of communication – and the right messages – with a wide range of specific audiences. From the outset, it had to be recognised, said Middleton, that there is generally low awareness of genomics and of the potential of utilising genomic data. Communication with the widest audience will be necessary – and that means pre-eminently patients and citizens – to make B1MG function. Information may not be enough in itself: Hans Peter DaubenDirector of DAHTA, the German Agency for Health Technology Assessment, suggested it may be necessary to actively advocate in order to raise the level of acceptance for genetic therapies and for the sharing of data across Europe, and with citizens as the principal audience, as they will be the final beneficiaries of the advances that will come from sharing data. This will require a new level of cooperation between experts developing the advances and societal organisations in a position to influence the opinions of populations. 

Regina Becker, a research scientist at Luxembourg University's Centre for Systems Biomedicine, raised some of the practical questions that this implies: how can we best reach people? how much information should we share? and how differently should we communicate to different publics? she mused. This was another area where Albreht saw the need building of broader coalitions, and Middleton candidly suggested exploring the retention of communication professionals to advise on the delicate tasks involved.

Bros-Facer reported on how Eurordis had used focus groups to get the perspective of rare disease patients on sharing genomic data – and how involvement of patients tended to increase their readiness to share data, once they were reassured over consent, governance, privacy protection and feedback on use of their data. 99% of rare disease patients polled agreed that data should be shared, and would be willing to share theirs, she said – a higher proportion than the 37-80% of the general population who are willing to share their data according to diverse recent polls.

But ultimately, the communication will have to be effective too at the policy level, and attention will have to be paid to the political class. Dr Ilda HoxhajDepartment of Life Sciences and Public Health at the Università Cattolica del Sacro Cuore, reported how the Italian health ministry had introduced a plan on developing policies on implementing genomic medicine, and Tuula Helander of the Ministry of Social Affairs and Health in  Finland said that a steering group for health strategy already existed in her country, with representation from key ministries.

Concluding remarks

As Horgan observed in closing the conference, it has played its role in triggering the debate over how stakeholders should be involved in setting the framework for cooperation within B1MG. It is vital that the exchanges with stakeholders should now ensure adequate attention to ethics, legal, societal impact; to standards and quality guidelines; to federated secure cross-border technical infrastructure; to delivering personalised medicine cross-border; and to clear and targeted communication with all relevant groups, without which the impetus for success will be weakened. Outlining a plan is one step. The next steps, of agreeing and then implementing plans is what attention must now turn to.

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