Ref. Ares(2021)4519071 - 12/07/2021
Summary of the roadmap document adopted
on 4 February 2020
by the signatories of the Declaration
Towards access to at least 1 million
sequenced genomes in the EU by 2022
Why genomics for health?
Today, the key is to enable sharing of genomic and other
It is vital to understand a person’s genetic predisposition
Interpreting people’s health characteristics – including their genomes – is key to delivering effective health and care. Genome
data. Research and clinical data need to be used together by
to disease. Besides cancers, other conditions needing
sequencing and data linking can help doctors predict, prevent, and diagnose diseases and treat people and patients better based
linking the information rather than bringing it all together
attention include all types of diabetes, cardiovascular
on their individual genomic characteristics. Many more people could benefit from sharing data about their genomes and from
doctors’ access to the wealth of linked genomic databases. People with four areas of disease – cancers, common complex
physically in a central place. This needs to happen without
diseases, asthma, and depression as well as all common
diseases, infectious diseases, and rare diseases – may especially benefit. The potential advantages to health systems through
breaching individuals’ privacy or compromising data security.
diseases with a complex, partly genetic, background.
enhanced prevention policies are enormous, thanks to available reference genomic data for screening and personalised medicine.
Data-sharing is the future for Europe’s health and care. It will
Individuals may not be born with such diseases but may be
Europe’s health systems are likely to gain from the savings that result from higher disease prediction rates, earlier diagnoses, and
support and help in implementing a number of European
at high risk of acquiring them.
the specific tailoring of therapies to individuals. Benefits will come to the economy too: many data-driven innovations and the
Union initiatives and activities, such as Europe’s Beating
opening-up of new and novel markets to health and care-related services and products lie ahead.
, European Data Strategy including a European
Health Data Space, and the European Open Science Cloud.
Understanding the role of genomics
and personalised medicine
Tackling cancers, common complex,
There is huge promise contained in genomic
infectious, and rare diseases
Every individual is unique. So too is every genome.
information for Europe’s people, healthcare
Combined with an understanding of people’s lifestyles and
systems, and innovators.
Genome sequencing – the ability to analyse the unique
environments, personalised medicine can support improved
sequence of an individual’s DNA – helps doctors and
disease diagnosis, treatment, and prevention based on each
scientists understand diseases better (for example, how to
individual’s genomic characteristics. It can initiate a shift
Massive population-based analysis and significant
predict, prevent, diagnose and treat diseases). Genomics can
away from “one size fits all” treatments towards individually
advances in the early diagnosis and prevention of disease
help determine the future risks of various debilitating
designed therapies and treatments.
can only be achieved when a critical mass of collected data
diseases, such as cancer and many common complex
Rare diseases affect no more than one person in 2,000.
has been reached. This will be based on data and knowledge
diseases, as well as supporting the diagnosis of rare diseases.
Nevertheless, in Europe alone, there are millions of such
shared between organisations and across borders. Indeed,
patients who have between 6,000 and 8,000 forms of
Tackling cancer is of fundamental importance for Europe’s
the larger the available sample collections and associated
Understanding an individual’s characteristics,
rare diseases. It can take up to 5 or 6 years to diagnose the
future. It has been estimated that, by 2035 globally, the
datasets, the more robust the analysis. Among future
including their genetics, is key to delivering the right
precise condition of a person with a rare disease. It is clearly
number of cases of cancer will double. However, many
activities will be interpreting common yet complex disorders
care to the right person at the right time.
important to reduce this timespan. Understanding and using
cancers can be prevented, by implementing steps already
such as diabetes; understanding cancer in its many varieties;
genomics offers great potential to do so.
made clear through research and investigation. Genomics will
recognising individuals’ susceptibilities to infectious diseases;
help to tackle the cancer challenge by delivering the
Personalised medicine is expected to bring significant
and diagnosing and finding leads for the treatment of
Pressing, new imperatives have arisen. Throughout spring
additional information needed for doctors and policy-makers
socio-economic benefits to Europe. It will result in faster and
patients with very rare diseases. In all of these domains, it
and summer 2020, a new coronavirus disease (COVID-19)
to make appropriate decisions: actions that are core to the
more accurate diagnosis of diseases, better identification of
will be important to generate large enough cohorts of people,
spread in Europe and worldwide. To face the growth of the
implementation of Europe’s Beating Cancer Plan.
the likely responses of individuals to medication, and
with their genetic information, to investigate diseases and
disease, rapid action has been needed. Understanding the
advances in preventive medicine. For people, the beneficial
conditions bearing in mind the great diversity of Europe‘s
susceptibility of individual citizens to COVID-19 infection, and
outcomes will include: better health, better quality of life, and
the great variety of morbidities the virus may cause, is
Researchers are learning that nearly all conditions
increased life expectancy. For health systems, savings will
therefore another major challenge that can be supported by
and diseases have a genetic component. Today,
Collecting and analysing genomes will also help experts
result from the greater efficiencies and cost savings that are
more than 30 million Europeans are affected by
to understand and leverage pharmacogenomics – the branch
the consequence of personalised medicine. For the economy,
rare diseases, of which over 80% have a genetic
of genetics concerned with determining an individual’s
these scientific and medical advances are likely to form the
origin. Inherited genetic mutations play a major role
response to a particular medication – more effectively. As a
basis of data-driven innovation, and the development of new
in some cancers.
result, doctors will be able to choose the right treatment for
and novel markets for services, products, and medicines.
the right patient by predicting reliably the side-effects of
medicines and identifying who would be a non-responder to
a specific therapy.
PABLO & PEDRO
FOR RARE DISEASES
AND COMPLEX DISEASES
Justyna heard about the ongoing biobanking project
in her country in the media, so she read more about
In 2015 Martin was born in Dublin, Ireland. Doctors
the genetic risks of certain diseases.
recorded an abnormally small head and face,
Her healthcare provider recommended
Louise has a long family history of breast cancer. One day,
as well as a slow development rate. Genome
a genomic analysis to estimate her
she heard on TV that mutations in the BReast CAncer genes
sequencing identified many possible candidates for
Polygenic Risk Score (PRS), a test for
increase the risk of breast cancer by up
the genes that were causing his slow development.
most common diseases which was just
Pablo (27 years old) develops severe COVID-19 symptoms.
to 80%. Although it turned out that she doesn’t have
However, a precise diagnosis would be needed to
introduced as a new clinical trial in the
Shortly a¡er, his brother Pedro (30 years old) is also tested
mutations in these genes, her risk of developing the condition
positive. Both need to be treated in intensive care. The two
is still high due to her family history.
EUROPEAN PLATFORM ON
brothers do not belong to any of the known risk groups, but
their close family relationship suggests a genetic risk factor.
RARE DISEASES REGISTRATION
Genetic profiling of the brothers is undertaken and
This genomic analysis showed that she has a PRS in the
compared to other disease cohorts and population
top 5% for Coronary Heart Disease (CAD). Drugs such as
biobank resources. It turns out that Pablo and Pedro are
In order to detect early potential breast cancer, she started
statins and other preventive measures lower the cholesterol
carriers of a rare genetic mutation in TLR7 (Toll-Like
breast cancer screening at age 35, much earlier than the
levels in the blood and reduce the CAD risk, so her doctor
Receptor 7). This gene on the X chromosome regulates
usual recommended routine screening. A few years later,
suggested to initiate statin treatment and make some
the interferon level as a defensive
Louise indeed developed breast cancer. To determine the
response to viruses. Based on this finding,
most suitable type of treatment, she underwent a genomic
Pablo and Pedro receive a specific treatment to
test assessing the utility of chemotherapy versus other
Launching a query through an EU federated platform that
restore the natural capacity of their immune
treatments in her case.
facilitates matching of cases with similar phenotypic and
system to fight the virus.
genotypic profiles allowed his doctors to find a second case in
Spain with similar symptoms. Comparison of the sequencing
results of the Irish and Spanish patients highlighted one
mutation both had in common, which pointed to a defect that
could be counteracted by supplying a specific metabolite.
Now Justyna has to take statins. The genomic analysis also
Test results showed that Louise would not
showed that one specific statin could increase her risk of
Imagine we would have the EU federated genomic data
benefit much from chemotherapy, so doctors
muscle inflammation and should be avoided.
network of 1+MG in place offering European clinicians the
opted for a more effective personalised
Justyna is now more aware of how to prevent CAD and make
possibility to receive alerts when they encounter patients
treatment, which also prevented her from
adjustments in her lifestyle, as well as receive the right
with similar characteristics. Patients’ increased susceptibility
experiencing the unpleasant side effects of
treatment and regular check-ups, if needed.
to life-threatening conditions caused by an infectious disease
such as COVID-19 could be rapidly discovered and the
Europe is currently developing PRS tests for early
necessary treatment adapted and personalised.
identification of risks factors for common diseases. The
Developments in the sequencing of cancer genomes are
Matching of cases with similar phenotypic and genotypic
1+MG project will yield genome sequences for many
rapidly improving insights and predictive power of genomic
characteristics through an EU federated platform facilitates
European citizens, in combination with phenotypic
tests on risk, prognosis and treatment of cancer. The
reaching an accurate diagnosis and treatment for rare
information, all collected with informed consent in biobanks
1+MG network will greatly increase the availability of this
disease patients with different backgrounds in separate
across Europe. This will further the implementation of PRS
knowledge to oncologists, improving the choices for patients
countries. In this case this worked not only for Martin's
testing in regular health care and will boost the availability
and the reducing over-treatment.
condition but also for the Spanish patient.
of cheap prevention throughout Europe and elsewhere.
What is the 1+ Million Genomes initiative?
Moving towards federated secure
Pooling the knowledge encoded in genomic data is an area of great promise for Europe’s citizens, healthcare systems, and innovators.
access to genomic data
One country or one research institute working on its own cannot reach the scale of genomes needed to understand and improve
the health of Europe’s people. Research, policy and care practice need to be brought together to focus on translating research
Making collective use of Europe’s genomic data is a
Among the six activities needed are to: set up a mechanism
outcomes into clinical applications and informing policy. This is why so many European countries are enrolled in the move forward
considerable challenge. Data security aspects play a critical
for cross-border collaboration and data governance; examine
on the 1+ Million Genomes initiative. Joining efforts means multiplying opportunities and will result in benefits for health and
role: trust needs to be ensured along several dimensions.
the underlying ethical, legal, and social issues around expan-
economies. Until 2023, Europe will be working on solutions to six key challenges that affect this pan-European initiative. Among
This initiative pursues a federated approach which will bring
ding work on the collection and sharing of genomes; determine
them are governance, infrastructure, and interoperability challenges.
together the strengths and qualities of national programmes,
the minimal set of health data to be included in every dataset
while drawing on their synergies and ensuring full compliance
and develop good genomics practice; design the infrastructure
Cooperating Europe-wide on genomics
The 1+ Million Genomes initiative, also referred to as
with data protection rules and standards. The initiative will
needed and determine how to implement it; and apply the
‘1+MG’, was launched on 10 April 2018, the European Union’s
not pool genomic data in a central repository. Instead,
work to the main use cases of rare diseases, cancers, complex
By 2018, several countries in Europe had established national
second Digital Day, when 13 European Union countries signed
accredited users will be able to send approved algorithms to
common diseases, and infectious diseases (e.g. COVID-19).
initiatives that aim to generate genomic data and link it to
the declaration: “Towards access to at least 1 million
the many local databases involved.
phenotypic data (the observable health properties of a
sequenced genomes in the European Union by 2022”. The
Today, Europe’s countries are at very different stages of
person). To help transform health and care in Europe, genomic
countries agreed to work collectively on a cross-border network
This joint effort among European countries will not start
development in the field of genomics. The aim is therefore to
and linked phenotypic data need to be accessed not only
of national genome cohorts associated with other relevant
from scratch. It will connect already existing experience and
set up and achieve a programme to upgrade and connect
within but also across national boundaries.
data. The aim is to advance data-driven research and health-
data resources and will involve a wide diversity of stake-
already existing national and regional genomic initiatives or
care solutions to benefit European citizens. By autumn 2020,
holders, including many from related ongoing programmes
support their establishment where this is needed.
more than 20 European countries have joined the initiative; a
few others have observer status. The initiative is open for
One country or one institute working in isolation
more Member States of the European Union, the European
Collaborating on the 1+ Million Genomes
will not manage to achieve the scale needed.
The aim is to create a framework that will enable
Economic Area (EEA) and European Free Trade Association
linking, access, and analysis of genomic and health
(EFTA) to join it.
data in Europe, both inside and across national
The 1+ Million Genomes initiative is a huge European-wide
undertaking. In its endeavour to link genomic data throughout
Europe, concrete preparatory work needs to take place
between now and the end of 2022. Europe will be working on
24 countries have
these solutions for the next three years.
signed the 1+MG Declaration
Updated on 26 January 2021
Which are the main areas of cooperation?
To create this framework with its focus on more than one million genomes, new ways of collaborating are needed. This is why
the 1+ Million Genomes initiative was founded. The signatory countries are keen to move forward on accelerating developments
in genomic science into enhanced healthcare. Various areas of activity are at the core of the initiative’s work: work organisation;
Data federation & interoperability
implementing personalised healthcare in health systems in cost-effective and efficient ways; ethical, legal, and social issues;
health and phenotypic data; good genomic practice and standards; and infrastructure and interoperability.
Organisation of work
An important priority is to address the implications of the
2018 General Data Protection Regulation
(GDPR) in relation to
Strong coordination and collaboration of all the
questions about consent, privacy, and research uses of
initiative’s efforts have been put in place. This is happening
genomic data in Europe.
through cooperation among the signatory countries, supported
by expert working groups. One expert group focuses on
Genomics innovation in national
governance and ensures overall coordination. It covers
t i l
several aspects of activity, including stakeholder engagement,
industry engagement, a learning framework, and education
Embedding genomics expertise and research outcomes
into personalised healthcare will lead to greater efficiencies
and, thus, cost savings. Accelerating the transfer of research
knowledge into improved and cost-effective healthcare is key
(including improving disease prediction rates, diagnosis, and
n in healthcare systems
the tailoring of therapies and treatments to individuals). This
requires innovation in healthcare systems across Europe: the
1+MG initiative will help the countries involved to learn from
each other in this respect. Analysing the potential costs and
Good genomic practice and standards
Infrastructure and interoperability
benefits of the adoption of genomics in healthcare will be part
of these steps. The 1+MG framework will thus assist in the
When sequencing genomic data, it is important to draw on
The initiative’s proposed infrastructure uses a federated
analysis of economic viability, and in the harmonisation of cost
good practice. As a result, guidelines and appropriate
approach. Each country in Europe is invited to contribute to
assessment and economic evaluation models. This will help
standards and forms of accreditation will need to be drawn up.
the endeavour, by bringing to the enterprise the strengths
towards generating comparable evidence across European
Genome sequencing standards, benchmarking and metrics, as
and qualities of its own national programme. The initiative is
Ethical, legal, and social issues
healthcare systems and facilitate countries to make informed
well as good quality control of data, are needed.
not centralised and will not pool genomic data in one place.
policy choices about the implementation of genomics-based
Rather, through interoperability, it will bring data warehouses
A number of ethical, legal, and social issues need to be
up to agreed standards and link them with a secure
brought into focus and resolved. Examples include the values
infrastructure. Users, like accredited research institutions,
and ethics underpinning this pan-European framework; the
Clinical and phenotypic data
healthcare professionals, and health policy agencies, will be
underlying legal framework and challenges of finding ways to
able to access this secure network to execute approved
process genomic data across borders despite legal differences;
Agreeing on a minimal set of phenotypic and clinical data to
algorithms and analyse available data remotely.
the contractual arrangements related to data use and data
be collected in each genomics study is crucial. This agreement
inclusion; and the societal implications, transparency, policies,
will enable comparative studies across data collections that
and processes to govern data access.
may have different backgrounds. The initiative will build
consensus to implement this minimal dataset across European
laboratories and clinics.
What is the timeline and next steps?
The 1+ Million Genomes initiative has set up an intensive agenda of activities to reach its goals by 2022. Its signatory countries
and expert groups are working together on many stepwise, concrete actions. By aligning the investments and advances expected
in 2020-2022, the aim of creating a cohort of at least 1 million sequenced genomes can be achieved.
Laying out the 1+MG Roadmap 2020-2022
• Test-run the secure infrastructure and legal framework to
cross-border sharing and analysis of genetic
Between 2020-2022, three phases of activity will concentrate
data and associated health datasets, anonymised as
Governance, cooperation, and collaboration
on engaging, translating, and driving the 1+MG initiative
appropriate. The datasets will come from multiple European
• Governance model, national “mirror groups”
countries, build on existing initiatives in genomics and
• Terms and conditions for distributed access
personalised medicine, and focus on four use cases.
• Guidelines on good genomic practice
• Funding, communication
2020 – Engage – Engaging countries and other
stakeholders in governance and collaboration
2022 – Drive – Moving forward on sharing, scaling, and
sustaining the initiative
• Assemble national, regional, and local public authorities
as well as a broad range of international stakeholders in the
• Embed the coordinated data governance framework and
initiative. They will link together different genomic medicine
infrastructure for Europe-wide large-scale processing of
resources in line with the initiative’s declaration.
genome and health data in national and regional
Infrastructure, guidelines, and pilots
• Define a governance model of coordination and
science and healthcare systems.
• Distributed, authorised and secure access
cooperation. The cooperation model will cover the terms
• Scale activities to enable distributed and secure access
• Legal guidelines for cross-border use
and conditions needed for secure access to genomic data
to research cohorts of at least 1 million sequenced
• Technical specifications, interoperability
and associated health data across borders, and the use of
• Secure infrastructure and tools
national and regional data collections for research and
The underpinning aim of this three-year initiative will be to
support a European data strategy that reinf
orces the creation
2021 – Translate – Translating the mission into concrete
of data spaces in key strategic sectors and domains of public
infrastructure, guidelines, and pilots
interest. In the health sector, this will translate into
a European health data space, essential for making
• Pilot the technical infrastructure for distributed, authorised
advances in preventing, detecting, and curing diseases
Sharing, scaling, and sustaining
and secure access to national and regional genetic data,
and for making informed decisions that will improve the
• Coordinated data governance
and facilitate the interoperability of registries and
accessibility, effectiveness, and sustainability of health-
• Plan for scale-up of the infrastructure
• Economic evaluation
• Support the development of an ethical and legal
• Roadmap for longer-term sustainability
A Horizon 2020 project “Beyond 1 Million
for cross-border access to genomic datasets
” (B1MG) will provide support and
to advance research across Europe, while taking appropriate
coordination to the implementation of the
measures to protect the privacy of individuals.
For more general information, the 1+ Million Genomes initiative encourages people to visit its website: https://ec.europa.eu/digital-single-market/en/european-1-million-genomes-initiative
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