Thank you to all those who took part and contributed to the meeting. Should you with to review the slides, they can be found below.
The Beyond 1 Million Genomes (B1MG) project aims to make it easier to share genomics data across borders within Europe. It supports the EU's 1+ Million Genomes Initiative (1+MG) by bringing together diverse stakeholders from scientific and technical communities, international initiatives, projects, national healthcare systems, as well as industry to collectively create the infrastructure, the legal guidance and the best practices to enable this access. To facilitate this process, the efforts of 1+MG/B1MG have also included increasing the engagement, awareness and alignment of the different stakeholders involved in the genomics-based research and healthcare landscape within Europe.
Being the last stakeholder forum organised by the B1MG project, this meeting will centre on identifying how stakeholders could contribute to the scale up and sustainability of the B1MG efforts.
Along with updates on progress to date (the 1+MG Trust Framework, the Maturity Level Model and industry engagement), highlights of the the day will include a panel discussion on industry engagement and parallel workshops to consider scale up and sustainability in the context of rare disease, cancer, common complex disease and infectious disease.
The Dutch Techcentre for Lifesciences (DTL)
Dr. Ruben Kok received his PhD in microbial genetics in 1995 at the University of Amsterdam and followed his scientific career at Yale University, Gist Brocades (now DSM) and Wageningen University and Research. In 2005, dr. Kok was appointed director of the Netherlands Bioinformatics Centre (NBIC). 9 Years later, with several colleagues in the field, Ruben Kok co-founded DTL, the Dutch Techcentre for Lifesciences and became its first director. Meanwhile DTL connects over 40 public and private organisations in a national digital life sciences platform, supporting strategies towards data stewardship, data analytics and data sharing in molecular life sciences.
DTL is host to the Dutch node in ELIXIR, and has been foundational for the development and global advocacy of the FAIR principles for data stewardship, later taken over by the GO FAIR initiative. Dr. Kok has co-initiated the development of Health-RI, set up to realise the national Ducth data infrastructure for health research and innovation. He is formal Board member of the Health-RI Foundation. Dr. Kok also chairs the international coordination group of the 1+ Million Genomes initiative (1+MG) since 2019.
In 2020 he was appointed as coordinator of the FAIR Data pillar of the Dutch National Programme Open Science (NPOS).
ELIXIR - Head of Human Genomics and Translational Data
Serena is the Head of Human Genomics and Translational Data at ELIXIR, the European infrastructure for bioinformatics and life-science data, based in Hinxton, UK. Her vision is to ensure data that can be shared, will be shared responsibly. She is working with scientists across Europe to establish standards and infrastructure to facilitate discoverability, access, sharing and analysis of genomics data, linked to other data types and at a scale that has not previously been achieved.
Developing infrastructure will unleash new possibilities for genomics and health. Serena is the coordinator of the B1MG project, a €4M EU H2020 Coordination and Support Action and an upcoming €40M EU H2020 Genomic Data Infrastructure project that are both aligned with the 1+ Million Genomes Initiative (1+MG), which she also co-chairs. This initiative is a commitment of 24 European countries to give cross-border access to one million sequenced genomes. She is also project lead for the Innovative Medicine Initiative (IMI) FAIRplus project, an €8.3M collaboration that sets out to improve data sharing and reuse in life science research.
Prior to joining ELIXIR, she was a Director within the Human Genetics and Computational Biomedicine group at Pfizer. In this role, she led and implemented a genetic and precision medicine strategy to support drug target selection and clinical programmes for the Pain and Sensory Disorders Research Unit. Earlier in her career, she worked within the Toxicogenomics group at GlaxoSmithKline. She gained postdoctoral experience at the University of Cambridge and Imperial College London and a PhD from the University of Cambridge, with a focus on the genetic susceptibility to disease.
Senior Legal Specialist, Sandra Liede, Healthtech Finland is a Finnish lawyer with wide-ranging expertise in the different areas of medical and bio law. She is professionally experienced in public policy and regulatory issues of health technology and medical devices, including software and artificial intelligence (AI), genomics, biobanking, health data processing and data governance.
During her career Sandra has been involved in legislating and supervising biobanking and genomics as well as partnering with national & EU institutions and stakeholder groups on these issues. As a part of her current role at Healthtech Finland Sandra coordinates the work of an industry forum involving the main stakeholders of the genome industry in Finland.
Juan Arenas Márquez
ELIXIR - Head of Project Management Office
Juan is the Head of the Project Management Office at ELIXIR, the European infrastructure for bioinformatics and life-science data, based in Hinxton, UK. With a computer Science background, he worked at Accenture for twelve years, leading ICT projects for global leaders in their market and contributing to the establishment of the Spain Delivery centre in Malaga.
While running his own SME providing ICT and project management services, he participated in startups and research projects with the University of Malaga and University Pompeu Fabra (Barcelona) before tacking on a CTO position for the University of Sheffield, leading ICT components of biomedical imaging research projects on dementia and musculoskeletal domains as well as in the technical development of generic federated cloud infrastructure for researchers across domains.
Since joining ELIXIR, he has been acting as Head of PMO and Financial Manager, contributing to growing the ELIXIR Portfolio from €40M to €340M. He contributes to the development of the B1MG and the GDI proposal, where he will support the development, rollout and operations of the 1+MG infrastructure across 18 countries.
Markus Kalliola is the project director in Health data 2030 project in The Finnish Innovation Fund Sitra and the coordinator of Joint Action Towards The European Health Data Space (TEHDAS). Prior to Sitra he worked in the European Commission in DG Health and food safety where he was responsible for cross-border healthcare IT projects.
Mr. Kalliola has vast experience in data economy and in the next years he will work towards a healthier and fairer data economy for Europe as well as towards a more competitive health data ecosystem in Finland. Mr. Kalliola holds a position of trust in HMA-EMA joint big data steering group, HMA-EMA Darwin EU advisory board and DNV Digital health advisory board.
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Luxembourg Institute of Health
Bert Verdonck has a 25+ year career in healthcare informatics and eHealth. He earned a PhD in signal and image processing from Telecom Paris and a MS in electro technical engineering of the university KU Leuven. He has a lifelong career at Philips which started in clinical software applications for radiology, cardiology and oncology. He extended experience into care solutions outside the hospital: home monitoring, regional eHealth solutions and population health management.
His geographic focus has been global, including focus on North America, International markets as well as EMEA. He held positions in clinical science, advanced development, product management, marketing, sales, business transformation, software engineering and general management. Since 2020 he is an active contributor to the Gaia-X initiative, in multiple committees and working groups. From October 2022 onwards he will work for the Luxembourg government, leading a new national data sharing initiative.
European Federation of Pharmaceutical Industries and Associations (EFPIA)
Magda Chlebus is Executive Director Science Policy & Regulatory Affairs at the European Federation of Pharmaceutical Industries and Associations (EFPIA), representing the R&D-based pharmaceutical industry in Europe. Magda and her team are in charge of following policy and legislative developments that influence the research and regulatory environments for the healthcare industry in Europe.
This includes public private collaborations (inter alia the Innovative Medicines Initiative), enabling sensitive technologies and the interface between new science and technology and regulation. She joined EFPIA in 1995. Her experience covers public and government affairs mainly at EU level, on a range of legislative and non-legislative files in the area of research, development and access to medicines and enabling technologies. Magda, a Polish national, holds a Master Degree in Applied Linguistics from the University of Warsaw.
The Hyve Project - European Health Data and Evidence Network (EHDEN)
Before joining The Hyve in 2016, Julia obtained her Ph.D. in Neuroscience at the Free University of Amsterdam, where she studied exocytosis in neuroendocrine cells. Since the beginning of 2021, Julia leads the Real World Data team, focusing on streamlining the work of the teams around RADAR-base and OMOP/OHDSI.
Important aspects of her role are implementation of processes, alignment of expectations and tasks of different roles and ensuring personal growth of team members. In the IMI EHDEN project, Julia co-leads the technical work package, focusing on providing the infrastructure to enable real world evidence generation across Europe.
Tiffany Boughtwood is the Managing Director of Australian Genomics, an Australian Government initiative supporting genomic research and its translation into clinical practice through broad engagement and a collaborative national approach. Tiffany has 25 years’ experience in molecular biology and management: leading academic and diagnostic genomic programs; collaborating internationally in genetic and genomic research; and consulting in health genomic implementation.
She has served on the World Economic Forum Global Future Council for Biotechnology and the WHO Collective Global Network for Rare Disease; is an advisor to the UAE Genomic Program and is a founding Director of the Childhood Dementia Initiative.
Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA)
Astrid M. Vicente is a senior researcher in biomedical sciences and public health, Head of the Department of Health Promotion and Non-Communicable Disease Prevention at the National Institute of Health Doutor Ricardo Jorge, in Lisbon, Portugal, and Associate Professor at the Faculty of Sciences, University of Lisbon. She holds a degree in Biochemistry and a PhD in Molecular Biology from University of Coimbra, and previously worked at the University of Coimbra and was a Genetic Epidemiology group leader at Instituto Gulbenkian de Ciência. Astrid Vicente represents the Ministry of Health of Portugal in the International Consortium for Personalised Medicine (ICPerMed) and in the European 1+Million Genomes Initiative (1+MG), and coordinates the development of the strategy for Genomic Medicine in Portugal.
She served two terms as elected Vice-Chair of ICPerMed (2018-2022), is a member of the Steering Board and leader of the Working Group on Clinical Studies. She is also a member of the 1+MG Initiative Coordination Team, and leads the workpackage on Personalised medicine delivery, scientific and societal impact for the associated coordination and support action Beyond One Million Genomes.
Her research focuses on understanding the etiology and biological processes underlying complex non-communicable diseases, with a particular interest in pathologies of the nervous system, like Autism Spectrum Disorder. She pursues a broad perspective of interactions between factors at various levels, including genomics, life style and the environment, to clarify the origins of multifactorial disorders and promote progress towards translation of knowledge into personalised medicine approaches. She previously participated in large international genomics consortia, as a lead investigator for the Autism Genome Project (AGP), and as a collaborator of the Psychiatric Genomics Consortium and the International Stroke Genetics Consortium. She has contributed extensively to the scientific literature in her research area, particularly in ASD. Currently she is very interested in promoting progress towards the implementation of personalised strategies for diagnostics, medical care and prevention in health systems, through public health policies for Personalised Medicine, and on the promotion of equitable access to Personalised Medicine for all.
Dr. Fernando Martin Sanchez
Instituto de Salud Carlos III
Dr. Fernando Martin-Sanchez is a research professor at the National School of Public Health of the “Carlos III” Health Institute of Spain. His field of specialization is biomedical informatics and more specifically its application in digital health and precision medicine. From 2015 to 2017 he was Full Professor at the Division of Health Informatics at Weill Cornell Medicine and participated in the US Precision Medicine Initiative (AllofUs). Prior to this (2011-2015), he was the Chair of Health Informatics at the Melbourne Medical School and foundational Director of the Health and Biomedical Informatics Centre (HaBIC) at the University of Melbourne.
He holds PhDs in Informatics and Medicine; an MSc in Knowledge Engineering and a BSc in Biochemistry and Molecular Biology. He is a Fellow of the American College of Medical Informatics (ACMI) and the Australasian College of Health Informatics (ACHI). He has served as a Vice-President of the International Medical Informatics Association (IMIA) and is an inaugural Fellow of the International Academy for Health Sciences Informatics (IAHSI). With more than 200 peer-reviewed publications (h-index:30), his research has been funded by some 40 grants from the European Commission, and main agencies from Spain, Australia and the USA.
Member of the 1+MG Coordination Group
|| 30 mins
||Arrival & registration
Waiting room will be open
|1000 - 1005
|| 5 mins
Marco Marsella, European Commission
|Introduction to the theme of the day: Scale up and sustainability of 1+MG/B1MG
|| 10 mins
|| Introduction on Scaling up and making 1+MG/B1MG sustainable
Ruben Kok, DTL/Health-RI, 1+MG CG
|Key updates from 1+MG/B1MG
||Overview of 1+MG Trust Framework
Serena Scollen, ELIXIR, 1+MG CG, B1MG Coordinator
||Overview of the B1MG Maturity level model
Astrid Vicente, INSA
||1+MG/B1MG engagement with industry
Sandra Liede, 1+MG WG7, Healthtech Finland
|First instruments for scale-up and sustainability
||Genomic Data Infrastructure (GDI)
Juan Arenas, ELIXIR, B1MG / GDI
||European Health Data Space (EHDS)/ Joint action Towards the European Health Data Space (TEHDAS)
Markus Kalliola, Sitra, Finland
Bert Verdonck, Luxembourg Institute of Health
Industry engagement in supporting cross border genomic data sharing: Benefits, challenges, and risks for 1+MG/B1MG in engaging with industry
Chair: Sandra Liede, representing WG7, 1+MG
Co-Chair: Ruben Kok
- Magda Chlebus, EFPIA
- Julia Kurps, The Hyve Project, EHDEN
- Tiffany Boughtwood, Australian Genomics
- Fernando Martin-Sanchez, Instituto de Salud Carlos III
Outcome: to come up with a set of recommendations on
- How can stakeholders from each use case help scale up and make the work of 1+MG/B1MG in data governance, data standards and technical infrastructural aspects sustainable?
- How can industry facilitate this process/ gaps industry can fill?
|1 hr and 15 mins
4 parallel breakout sessions:
Room 1. Rare disease
Chair: Katrin Õunap, Co-Chair: Ruben
Room 2. Cancer
Chair: Giovanni Tonon, Co-chair: Astrid Vicente
Room 3. Common and complex disease + Genome of Europe
Andres Metspalu, Co-chair: Serena Scollen
Room 4. Infectious diseases
Chair: Katja J. Kivinen, Co-chair: Juan Arenas
|1515 - 1600
Chairs to feed back key points from each breakout session
1. Introduction to the day: Marco Marsella (Head of DG CNECT, European Commission)
This session will open the 3rd 1+MG/B1MG Stakeholder Forum.
2. Scale up and sustainability of 1+MG/B1MG efforts: Ruben Kok (Dutch Techcentre for Life Sciences)
This session will set the stage for the main theme of the forum and the questions that will guide the discussions of the day.
- How can the Maturity Level Model be put to use by stakeholders?
- How can the 1+MG Trust Framework be put to use by stakeholders?
- What is the role of industry in the scale-up and sustainability efforts?
- What is the role of National Mirror Groups in the scale- up and sustainability of the infrastructure?
3. Key updates on 1+MG/B1MG
During this session we will share the key outcomes of the 1+MG/B1MG project that are relevant to the theme of the day:
- Trust Framework: Serena Scollen (ELIXIR Hub)
Key updates will be presented from 1+MG/ the B1MG project. This session will include a brief overview of the 1+MG Trust Framework that was the focus of the previous stakeholder forum, with updates on its 3 components - Data governance, data standards and quality, and technical infrastructure.
- Maturity Level Model (MLM): Astrid Vicente, Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA)
The efforts of 1+MG/B1MG in developing a MLM to enhance the national healthcare systems towards the goal of precision medicine will be introduced and progress on the pilot phase will be reported during this session.
- 1+MG industry engagement: Sandra Leide (Healthtech Finland)
Learnings and experience from the efforts undertaken by 1+MG in engaging with industry as a key stakeholder in this initiative will be shared.
4. Implementation and next steps
This session will bring together the first instruments that are taking/will take forward the coordination and support efforts of 1+MG/B1MG towards the implementation, scale-up and sustainability of the infrastructure for cross-border genomic data sharing within Europe.
- Genomic Data infrastructure: Juan Arenas Marquez
- European Health Data Space: Markus Kalliola
- Gaia-X: Bert Verdonck
5. Panel discussion on Industry engagement:
Building on the efforts undertaken by 1+MG to engage with industry stakeholders, this session will include a panel discussion where we will discuss the benefits, risks and challenges of industry involvement in cross border genomic data sharing efforts.
Panellists will include:
- Sandra Leide, Healthtech Finland and 1+Million Genomes (1+MG)
- Magda Chlebus, European Federation of Pharmaceutical Industries and Associations (EFPIA)
- Julia Kurps, The Hyve Project - European Health Data and Evidence Network (EHDEN),
- Tiffany Boughtwood, Australian Genomics
- Fernando Martin-Sanchez, ISCIII, 1+MG CG
6. Parallel workshops and feedback
The participants will break up into 4 parallel breakout rooms, one for each 1+MG Use Case -
- Rare disease
- Infectious disease
- Common and complex disease and Genome of Europe (GoE).
The goal of each breakout session will be to identify challenges stakeholders could face in scaling up the 1+MG Trust Framework and engaging with industry, as well as recommending how these challenges can be navigated within the Use Case.