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1+MillionGenomes
    
Roadmap 
2020-2022
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





1+MillionGenomes
1+MillionGenomes
1+MillionGenomes
 
 
      Roadmap 2020-2022
   Roadmap 
2020-2022
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. 
Cancer PlanEuropean 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 
population.
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 
genomics.
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 
2
a specific therapy.
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1+MillionGenomes
1+MillionGenomes
 
 
      Roadmap 2020-2022
   Roadmap 
2020-2022
LOUISE
MARTIN
JUSTYNA
PABLO & PEDRO
IMPROVING
IMPROVING PROGNOSIS
PREVENTING COMMON
TACKLING HIGH
CANCER TREATMENT
FOR RARE DISEASES
AND COMPLEX DISEASES
SENSITIVITIES TO
INFECTIOUS DISEASES
MICROCEPHALY
Justyna heard about the ongoing biobanking project 
BREAST CANCER
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, 
YGENIC
Her healthcare provider recommended 
COVID-19
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 
BRCA1 and BRCA2 increase the risk of breast cancer by up 
the genes that were causing his slow development. 
 POL
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 
start treatment. 
university hospital.
positive. Both need to be treated in intensive care. The two 
is still high due to her family history. 
RISK SCORE
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
CORONARY ARTERY
INFLUENCES
CANCER SCREENING
DISEASE
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 
EU RD 
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 
PLATFORM
statins and other preventive measures lower the cholesterol 
carriers of a rare genetic mutation in TLR7 (Toll-Like 
Personal
breast cancer screening at age 35, much earlier than the 
Treatment
levels in the blood and reduce the CAD risk, so her doctor 
GENETIC 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 
lifestyle changes.
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 
SIDE EFFECT
system to fight the virus.
genotypic profiles allowed his doctors to find a second case in 
Personal
Treatment
PREVENTION
Spain with similar symptoms. Comparison of the sequencing 
results of the Irish and Spanish patients highlighted one 
DATABANK
Personal
Treatment
TREATMENT
mutation both had in common, which pointed to a defect that 
NETWORK
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 
chemotherapy.
CHEMO
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.
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1+MillionGenomes
1+MillionGenomes
 
 
      Roadmap 2020-2022
   Roadmap 
2020-2022
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 
and initiatives. 
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 
Initiative
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 
boundaries.
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
since 2018
Updated on 26 January 2021
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1+MillionGenomes
1+MillionGenomes
 
 
      Roadmap 2020-2022
   Roadmap 
2020-2022
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; 
 Social
health and phenotypic data; good genomic practice and standards; and infrastructure and interoperability.
Clinica
Organisation of work
An important priority is to address the implications of the 
l &
2018 General Data Protection Regulation (GDPR) in relation to 
 
 standards
Legal
ph
Strong coordination and collaboration of all the 
questions about consent, privacy, and research uses of 
en
es &
o
initiative’s efforts have been put in place. This is happening 
genomic data in Europe.
n
t
i
y
l
p
through cooperation among the signatory countries, supported 
e  
Security
i
d
c
i
 
by expert working groups. One expert group focuses on 
Genomics innovation in national 
u
d
g
a
 
t
governance and ensures overall coordination. It covers 
healthcare systems
y
a
t i l
several aspects of activity, including stakeholder engagement, 
a u
industry engagement, a learning framework, and education 
Embedding genomics expertise and research outcomes 
Q
and communication. 
into personalised healthcare will lead to greater efficiencies 
Gen
Ethical
and, thus, cost savings. Accelerating the transfer of research 
omic
knowledge into improved and cost-effective healthcare is key 
s innovatio
(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 
personalised medicine.
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.
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1+MillionGenomes
1+MillionGenomes
1+MillionGenomes
 
 
      Roadmap 2020-2022
   Roadmap 
2020-2022
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.
2020
Laying out the 1+MG Roadmap 2020-2022
•  Test-run the secure infrastructure and legal framework to  
Engage
 enable 
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”
forward.
  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  
2021
  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  
Translate
  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  
 genomes. 
• Secure infrastructure and tools
  national and regional data collections for research and  
  improving healthcare. 
The underpinning aim of this three-year initiative will be to 
support a European data strategy that reinforces the creation 
2021 – Translate – Translating the mission into concrete 
of data spaces in key strategic sectors and domains of public 
2022
infrastructure, guidelines, and pilots
interest. In the health sector, this will translate into
a European health data space, essential for making 
Drive
•  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
 databases. 
care systems. 
• Economic evaluation
•  Support the development of an ethical and legal 
• Roadmap for longer-term sustainability
A Horizon 2020 project “Beyond 1 Million 
 framework 
for cross-border access to genomic datasets  
Genomes” (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.
roadmap.
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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1+MillionGenomes
 
 
      Roadmap 2020-2022
More information
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