COMMENTARY

Integrating Genomics into Healthcare:

A Global Responsibility
Zornitza Stark,1,2,3 Lena Dolman,4,5 Teri A. Manolio,6 Brad Ozenberger,7 Sue L. Hill,8 Mark J. Caulfied,9
Yves Levy,10 David Glazer,11 Julia Wilson,12 Mark Lawler,13 Tiffany Boughtwood,1,2
Jeffrey Braithwaite,1,14 Peter Goodhand,4,5 Ewan Birney,4,15 and Kathryn N. North1,2,3,4,*

Genomic sequencing is rapidly transitioning into clinical practice, and implementation into healthcare systems has been supported by
substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine initiatives are
driving transformative change under real-life conditions while simultaneously addressing barriers to implementation and gathering
evidence for wider adoption. We review the diversity of approaches and current progress made by national genomic-medicine initiatives
in the UK, France, Australia, and US and provide a roadmap for sharing strategies, standards, and data internationally to accelerate
implementation.

Introduction ness, and ethical and legislative is- neously gathering evidence for wider
Five years ago, genomic sequencing sues.3,4 Frameworks for implementing implementation. Other countries
was restricted to the research environ- genomic-medicine programs in single such as the US, Estonia, Denmark,
ment. Now, it is increasingly used in institutions and multi-institution col- Japan, and Qatar have invested
clinical practice, and over the next laboratives are available,2,5 but infor- in population-based sequencing pro-
5 years, genomic data from over mation on translating this experience jects with return of results to partici-
60 million patients is expected to to transform whole healthcare sys- pants, whereas national initiatives in
be generated within healthcare.1 But tems is scarce. Switzerland, the Netherlands, Brazil,
are our health systems ready for This is an international endeavor.3 and Finland are primarily focusing
the complexity, volume, and respon- Since 2013, the governments of on the development of infrastructure,
sibility associated with genomic at least 14 countries have invested such as common standards and data-
medicine and the imperative to over US$4 billion in establishing na- sharing policies and platforms. These
share clinical, epidemiological, and tional genomic-medicine initiatives projects will potentially be dwarfed
genomic data on a global scale to to address implementation barriers by the China Precision Medicine
optimize the benefits for the individ- and transition testing from centers of Initiative: a 15-year, CNU60 billion
ual? Genomic sequencing is a trans- excellence to mainstream medical (US$9.2 billion) project aiming to
formative technology, and effective practice (Figure 1 and Table S1). In sequence 100,000,000 genomes by
integration in healthcare requires sys- countries such as the UK, France, 2030.
tem-wide change.2 Beyond the tech- Australia, Saudi Arabia, and Turkey, Here, we illustrate the diversity
nical requirements of establishing workforce and infrastructure develop- of approaches and current progress
sequencing and bioinformatics capac- ment has been coupled with testing made toward meeting the challenges
ity to process samples, the real barriers large numbers of patients with rare of integrating genomics into main-
to widespread clinical implementa- diseases and cancer, two applications stream healthcare at a national
tion span diverse domains, including of genomic sequencing expected to level by focusing on the UK, France,
data integration and interpretation, have immediate clinical benefits. Australia, and US, as well as pro-
workforce capacity and capability, These ‘‘proof-of-principle’’ programs vide a roadmap for sharing tools,
public acceptability and government are driving change and fostering strategies, data, and standards inter-
engagement, paucity of evidence adoption among stakeholders under nationally to accelerate implemen-
for clinical utility and cost effective- real-life conditions while simulta- tation.

1
Australian Genomics Health Alliance, Melbourne VIC 3052, Australia; 2Murdoch Children’s Research Institute, Melbourne VIC 3052, Australia;
3
Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia; 4Global Alliance for Genomics and Health, 661 University Avenue,
Suite 510, Toronto, ON M5G 0A3, Canada; 5Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, ON M5G 0A3, Canada;
6
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-2152, USA; 7All of Us Research Program, National Insti-
tutes of Health, Bethesda, MD 20892-2152, USA; 8National Health Service England, Skipton House, 80 London Road, London SE1 6LH, UK; 9Genomics
England, Queen Mary University of London, Dawson Hall, London EC1M 6BQ, UK; 10INSERM (French National Institute for Health and Medical Research),
75654 Paris Cedex 13, France; 11Verily Life Sciences, 269 East Grand Avenue, South San Francisco, CA 94080, USA; 12Wellcome Sanger Institute, Wellcome
Genome Campus, Hinxton, Cambridge CB10 1SA, UK; 13Centre for Cancer Research and Cell Biology, Queen’s University Belfast, 97 Lisburn Road, Belfast
BT9 7AE, UK; 14Australian Institute of Health Innovation, Macquarie University, 75 Talavera Road, Sydney, NSW 2113, Australia; 15European Molecular
Biology Laboratory-European Bioinformatics Institute, Hinxton, Cambridge CB10 1SD, UK
*Correspondence: [email protected]
https://doi.org/10.1016/j.ajhg.2018.11.014.
Ó 2019 The Authors. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

The American Journal of Human Genetics 104, 13–20, January 3, 2019 13

Figure 1. Map of Currently Active Government-Funded National Genomic-Medicine Initiatives

United Kingdom repository, and a data center. NHS recommendations addressing further
The UK has a single-payer national England has established 13 Genomic changes needed in NHS infrastructure,
healthcare system: the National Medicine Centers to identify, acquire data sharing, governance, research,
Health Service (NHS). Genomics En- consent from, and enroll participants and clinician training.7 The NHS
gland (GEL) was established in 2013 in the project; collect high-quality Genomic Medicine Service (GMS)
with »300M (US$415M) in govern- DNA samples, including the establish- was launched in October 2018 with a
ment funding and a mandate to ment of new pathways for processing mandated test directory linking WGS
sequence 100,000 genomes from pa- fresh and fresh frozen tumor DNA; for defined rare diseases and cancers
tients with over 100 rare diseases and provide clinical information to facili- to reimbursement. A new national
seven common cancers, as well as their tate data analysis; and be respon- network of Genomic Laboratory
family members.6 This sequencing sible for the interpretation and clin- Hubs is being established, and WGS
target was met in December 2018. ical actionability of final results. provision, data, and informatics infra-
The majority of rare-disease testing Genomic data are linked to health structure are delivered in partnership
(the exception being that for late- records in partnership with NHS with GEL. The recent UK Life Sciences
onset adult disease) uses a trio-based Digital and are available to researchers Sector deal, the »65M (US$92.5M) in-
approach to optimize large-scale data and industry through the Genomics vestment by Health Data Research
interpretation. A separate pathogen England Clinical Interpretation Part- UK in a UK-wide collaborative network
sequencing project is underway at nership (GeCIP) and the Discovery to facilitate the integration of health
Public Health England, and Health Forum. Genomic-medicine initiatives and data science, and the recent
Education England is delivering 700 have been funded in Scotland, government announcement of plans
person-years of education and training Wales, and Northern Ireland (»6M to sequence 5,000,000 genomes in
to increase workforce capacity and [US$8M], »6.8M [US$9M], and »3.3M the next 5 years in the clinical and
capability. [US$4.6M], respectively) to establish research environments are expected
GEL has established centralized local clinical and laboratory genomics to further strengthen UK’s leadership
infrastructure for the delivery of infrastructure and recruit participants in genomics.
diagnostic whole-genome sequencing for the 100,000 Genomes Project.
(WGS) services, including an NHS The 2016 annual report of England’s France
Genomic Sequencing Centre in part- Chief Medical Officer (‘‘Generation France has a healthcare system based
nership with the Wellcome Trust Genome’’) called for the transforma- on government-funded national
and Illumina, a standardized bioinfor- tion of patient care through the sys- health insurance. The French Plan
matics and analysis pipeline, a bio- tematic use of genomics and made 24 for Genomic Medicine 2025 (Plan

14 The American Journal of Human Genetics 104, 13–20, January 3, 2019

France Médecine Génomique 2025) Australian Genomics was estab- sequencing not only increases diag-
was commissioned by the prime min- lished in 2014 as a research partner- nostic yield but also has the potential
ister in 2015 and developed by Avie- ship of 78 organizations, including to reduce diagnostic costs while
san (the French National Alliance for diagnostic laboratories, clinical ge- improving short-term patient man-
Life Sciences and Health) in 2016. It netics services, and research and aca- agement and longer-term patient and
aims to integrate genomic medicine demic institutions. It was awarded family outcomes.2,12–16 The Australian
into healthcare and establish a na- AU$25M (US$19.2M) by the National federal government has recently
tional genomic-medicine industry Health and Medical Research Council committed AU$500M (US$372M)
that promotes innovation and eco- in 2015 to demonstrate the value and over 10 years for a Genomics Health
nomic growth. Of the V670M practical strategies for implementing Futures Mission to support new and
(US$822M) invested in the first genomics into healthcare, and it lever- expanded clinical studies in rare dis-
5 years, around V230M (US$282M) ages AU$100M (US$76.8M) from ease, cancer, and complex conditions;
will come from industry. Genome state-based funding for genomics pro- early access to clinical trials; and
sequencing will be performed by 12 grams. community dialog to understand the
ultra-high-throughput services, two Australian Genomics comprises four privacy, legal, social, and familial af-
of which will be launched in 2018. research programs: (1) national diag- fects of genomics. Two initial projects
A national data-analysis facility (Col- nostic and research network; (2) na- have been announced—a population
lecteur Analyseur de Données) will tional approach to data federation reproductive-carrier-screening pro-
interpret and store data and interface and analysis; (3) evaluation, policy, gram and a cardiovascular-disease
with other national and international and ethics; and (4) workforce and flagship project—and an additional
databases. Based at academic centers education. Currently over 40 rare- AU$26M (US$18.4M) of funding has
of excellence, a reference center for disease and cancer flagship projects been granted to Australian Genomics
innovation, assessment, and transfer across 30 clinical sites provide experi- for these.
(Centre de Référence, d’Innovation, ential learning while prospectively
d’Expertise et de Transfert [CRefIX]) evaluating diagnostic and clinical United States
will develop procedures, tools, and utility, cost effectiveness, and new The US has a mixed private and public
technologies and will also be respon- approaches to service delivery and healthcare system and has invested in
sible for implementation, commis- comparing different sequencing genomic-medicine implementation
sioning, and workforce training. modalities, including WGS, whole- since 2011 with the launch of the
CrefiX is already operational and has exome sequencing (WES), RNA new strategic plan of the National
launched the first clinical pilot pro- sequencing, and large capture panels. Human Genome Research Institute
jects in rare disease, cancer, common The majority of rare-disease testing (NHGRI).17 NHGRI’s genomic-medi-
disease (diabetes), and a population uses a singleton approach to optimize cine programs aim to identify barriers
cohort to test technological, clinical, resource use. Although sequencing, to implementation of genomics in clin-
and regulatory barriers to implemen- bioinformatic analysis, data interpre- ical care and develop solutions and best
tation. It is anticipated that 10,000 in- tation, reporting, and storage remain practices for widespread dissemina-
dividuals will be recruited into the the responsibility of diagnostic labora- tion. Many of these landmark projects
initial pilot projects, and France will tories, Australian Genomics is devel- have recently reported results, estab-
be capable of sequencing 235,000 oping frameworks for ordering tests, lishing evaluation frameworks and
genomes per year by 2020, corre- acquiring consent, and capturing providing evidence on the diagnostic,
sponding to 20,000 patients with phenotypes; developing a federated re- clinical, and economic value of
rare disease and 50,000 patients with pository of genomic and phenotypic genomic sequencing in specific patient
metastatic or refractory cancer. data compliant with Global Alliance groups, such as healthy and acutely un-
for Genomics and Health (GA4GH) well newborns;18–22 individuals with
standards; and enabling global data complex, undiagnosed rare genetic
Australia sharing through Beacon,9 Match- conditions;23,24 and those in specific
Australia has a national health sys- maker Exchange,10 and ClinVar.11 healthcare settings, such as primary-
tem, but clinical and laboratory ge- There is active engagement with pa- care and cardiology clinics.25–27 NHGRI
netics services are funded by the six tient advocacy groups, and a joint projects are also addressing specific evi-
state and two territory governments. committee has been established with dence gaps in the clinical delivery of
Thus, the approach to implementing the Australian Digital Health Agency genomic testing, such as the the return
genomic medicine has been based on to integrate genomic test results into of secondary findings,28–30 inter-labo-
the ‘‘federation’’ of existing state- the national electronic health record ratory consistency in variant interpre-
based services with the engagement (MyHealth Record). tation,31,32 integration of genomic
of state and federal governments in Evaluation data are already avail- resources with electronic records,33
the development of a National Health able from several rare-disease flagship and sharing implementation and eval-
Genomics Policy Framework.8 projects, indicating that genomic uation experience more broadly.34–37

The American Journal of Human Genetics 104, 13–20, January 3, 2019 15

Tools for electronic phenotyping such as the National Cancer Institute’s development, provides another suc-
(Phenotype KnowledgeBase), clinical Genomic Data Commons. Direct-to- cessful implementation model in
decision support (Clinical Decision consumer (DTC) testing companies, low-resource settings.50
Support KnowledgeBase), and imple- such as 23andMe and Ancestry, All of these large-scale initiatives
mentation in resource-limited settings capture significant health-related have the opportunity to transform
(IGNITE SPARK Toolbox) are openly genomic information, but public and healthcare systems by integrating
available, and ClinGen plays a central clinician responses to DTC genomics genomic technologies into clinical
role internationally in curating and have been variable.43–45 care. However, with this comes the re-
disseminating consensus informa- sponsibility to do so efficiently and
tion on clinically relevant genes and International Collaboration to effectively and to share knowledge
variants.38–41 Accelerate the Implementation of and experience. Concerns about over-
The Precision Medicine Initiative Genomics into Healthcare promising (‘‘genohype’’)51 and the
All of Us Research Program, initially The above-mentioned implementa- perceived desire to exempt genomic
funded through a special congres- tion approaches and priorities of testing from requirements for robust
sional appropriation of US$500M to genomic-medicine initiatives in evidence, leading to misallocation
the National Institutes of Health in high-income countries might not of healthcare resources,52 have been
2016–2017, has now launched necessarily be applicable to low and raised. Delays in program evaluation
throughout the US and has an middle-income countries.46 Yet, broad mean that clinical implementation
additional funding commitment of implementation will be crucial in and policy development proceed
US$1.455B. All of Us is engaging building representative population uninformed by evidence, potentially
1,000,000 volunteers of all life stages, reference datasets that improve resulting in inappropriate testing,
health statuses, races and ethnicities, variant interpretation globally47 and poor-quality data interpretation,
and geographic regions, reflecting in accelerating the discovery of genes siloed data, and funding arrange-
the human diversity of the US. Mobi- associated with rare disease, particu- ments that entrench existing heath-
lizing rich and constantly evolving larly in populations where consan- care inequalities. Healthcare sys-
data—from electronic health records, guinity is common.48 Implementa- tems are already struggling with
biospecimens, and questionnaires to tion in a range of economic and evidence-based medicine, and the
physical evaluations, sensors, and social contexts will also help address absorptive capacity of frontline clin-
other technologies—the program will health priority areas with a major ical teams looms large as a key chal-
support research at the intersection contribution to global disease burden, lenge.53 Almost all of the initiatives
of lifestyle, environment, and ge- including host-pathogen interactions discussed here are subject to time-
netics to produce new knowledge, in infectious diseases; common limited funding, with the danger of
leading to the development of inno- monogenic disorders, such as sickle creating momentum for genomic
vative prevention strategies and treat- cell disease and thalassemias; and medicine, without the guarantee of
ments. Both genotyping and WGS are complex conditions, including hy- sustainable healthcare resource allo-
being evaluated as testing modalities pertension, dyslipidemia, diabetes, cation.
initially. stroke, and kidney disease. The Global The scale of the implementation
Genomic Medicine Collaborative is challenge is formidable. Sharing
Genomic Medicine in the Private working to identify and share data, tools, experience, and knowl-
Sector genomic-medicine implementation edge to create a global ‘‘learning
The increased integration of genomics activities around the globe, including health system’’ is essential if we are
into public healthcare systems is those in under-resourced areas. Na- to effectively accelerate and sustain
mirrored by an explosion in the use tional initiatives, even in resource- the integration of genomics into
of genomics in the private sector, limited settings, can often move healthcare. Collaborations across
particularly in the US. Geisinger more quickly in response to specific multiple areas are already under way
Health System’s MyCode project, local health needs.5 The Southeast (Box 1), but here we will focus on dis-
which began as a partnership with Re- Asian Pharmacogenomics Research cussing two key priorities: evidence
generon Pharmaceuticals to perform Network, for example, is a multina- generation and data sharing.
exome sequencing in 100,000 Gei- tional collaboration focused on phar- Building the Evidence Base for Imple-
singer patients and use the results for macogenomic risk alleles present at mentation of Genomics in Healthcare
drug discovery and clinical care,42 high frequencies in Southeast Asian The paucity of evidence for the clin-
has recently expanded to all consent- populations.49 The Human Heredity ical utility of genomic testing, and
ing Geisinger patients. Foundation and Health in Africa initiative, a the resultant lack of alignment of
Medicine has developed a number of large-scale multinational sequencing reimbursement methods to drive
genomics-based tests in the domain project that pools infrastructure and transformational change in health-
of precision cancer medicine while human resources, harmonizes data care, remains a principal barrier
also contributing to public databases, collection, and accelerates capacity to implementation.3,5 National-level

16 The American Journal of Human Genetics 104, 13–20, January 3, 2019

 Box 1. National Genomic-Medicine Initiatives: Collaborative ‘‘Cross-Country’’ Projects Currently Underway

d Align research protocols to enable discovery across larger datasets, as well as compare outcome measures such as
diagnostic and clinical utility, cost effectiveness, and patient- and family-reported outcomes (Genomics En-
gland, Australian Genomics, NHGRI Newborn Sequencing in Genomic Medicine and Public Health)
d Evaluate new sequencing and computational methods for clinical use (Genomics England and French Genomic
Medicine Plan)
d Harmonize collection of clinical and phenotypic data: define the minimum clinical dataset required for inter-
preting genomic tests and the health informatics infrastructure required for data capture and exchange (Austra-
lian Genomics and Genomics England)
d Improve understanding of variant- and gene-disease associations by sharing the curation effort, developing
common data models to capture evidence, and contributing to public knowledge repositories (NHGRI ClinGen,
Genomics England, and Australian Genomics)
d Develop an evaluation framework for assessing existing educational resources (Australian Genomics and Geno-
mics England); enable broader access, particularly to early adopters in countries with emerging genomic-medi-
cine programs
d Develop strategies and capture experience in engaging culturally and linguistically diverse populations, indige-
nous populations, the general public, patients, professionals, and funders (Australian Genomics, Genomics
England, NHGRI, All of Us, and Japan Agency for Medical Research and Development [AMED])
d Compare national consent procedures: reduce unnecessary heterogeneity, identify common features that repre-
sent best practices to allow global data sharing, and explore new models such as dynamic consent platforms
(Australian Genomics, Genomics England, Swiss Personalized Medicine Network, and Japan AMED)

initiatives have an important role in developed by NHS England in plan—GA4GH Connect—that focuses
presenting a unified voice to govern- conjunction with Genomics England on the development of standards for
ments to inform future policy to commission WGS for routine care responsible sharing of clinical-grade
development and service planning. provides an early example of inte- meta-, genomic, and phenotypic
Outcome evaluation of patient co- grating the clinical evidence base data. GA4GH toolkits provide a frame-
horts is a key priority to inform policy with operational and financial consid- work to enable transparent, respon-
decisions but is hampered by a lack of erations. sible, and accountable data sharing,
consensus on standard criteria against Genomic Data Sharing as well as practical specifications for
which the effectiveness of genomic The importance of breaking down genomic data formats and standards
interventions should be evaluated data silos to accelerate the develop- for interoperable exchange. Genomics
and reported.54,55 There is a need to ment of knowledge databases that England, Australian Genomics, and
develop and share evaluation meth- directly improve patient outcomes All of Us serve as early Driver Projects
odologies specific to different disease cannot be underestimated.9 Genomic for GA4GH to inform the iterative
groups,56 funding contexts, and data generated within healthcare set- development of tools and policies for
healthcare systems. Although some tings are subject to strict national reg- data sharing, test them under real
data are already available on diag- ulatory frameworks that are unlikely conditions, and disseminate best
nostic yields, short-term clinical util- to allow large-scale data migration, practices.
ity, and cost effectiveness in small and innovative solutions are neces-
cohorts,12,13,15,16 more data are sary to enable federated data anal- Conclusions
needed on longer-term health out- ysis without data movement across It takes an average of 17 years for
comes following genomic testing, geographical borders58 while main- research evidence to be implemented
including measures such as the devel- taining public trust.59 National in clinical practice.60 We have a global
opment and progression of disease, genomic-medicine programs have responsibility to accelerate the imple-
quality-adjusted life years gained, pa- the opportunity to resource and pro- mentation of genomic medicine and
tient empowerment, impact on fam- mote best practices in data sharing enable the timely realization of the
ilies, and downstream cost effects on by structuring data access and consent benefits of genomics for individual
healthcare systems14,25 and society. processes, collecting clinical and patients, families, and healthcare sys-
National genomics initiatives also genomic data in interoperable for- tems. Technical standards and policy
provide the opportunity to assess the mats, committing to global data guidance are high priorities at this
evidence for and against particular ap- sharing, and informing public debate crucial inflection point to enable a
proaches for effective, sustainable and policy development. GA4GH shift in the global community
implementation.57 The framework recently launched a 5 year strategic toward more responsible and effective

The American Journal of Human Genetics 104, 13–20, January 3, 2019 17

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18 The American Journal of Human Genetics 104, 13–20, January 3, 2019

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20 The American Journal of Human Genetics 104, 13–20, January 3, 2019

The American Journal of Human Genetics, Volume 104

Supplemental Data

Integrating Genomics into Healthcare:

A Global Responsibility
Zornitza Stark, Lena Dolman, Teri A. Manolio, Brad Ozenberger, Sue L. Hill, Mark J.
Caulfied, Yves Levy, David Glazer, Julia Wilson, Mark Lawler, Tiffany Boughtwood, Jeffrey
Braithwaite, Peter Goodhand, Ewan Birney, and Kathryn N. North
 Table  S1.  Summary  of  currently  active  national  government-­‐funded  genomic  
medicine  initiatives.  
 
Country   Initiative   Focus   Summary  
(population)   Years  active   areas  
 
Healthcare  
system  
Australia   Australian   Infrastructure  and   A  collaborative  partnership  of  over  80  
(25,000,000)   Genomics   clinical  cohorts:  rare   institutions,  with  research  driven  
  2014-­‐2021   diseases,  cancer,   through  4  programs:  National  
Public:  mixed   infectious  disease   diagnostic  and  research  network;  
state  and   National  approach  to  data  federation  
federal   and  analysis;  Evaluation,  policy,  ethics;  
and  Workforce  and  education.  Rare  
disease  and  cancer  flagships  serve  as  
models  for  the  implementation  of  
genomic  medicine  in  clinical  practice.  
Leverages  state-­‐based  initiatives  
Melbourne  Genomics  Health  Alliance,  
Sydney  Genomics  Collaborative,  and  
Queensland  Genomics  Health  Alliance.  
Government  investment:  AUD125M  
(USD95M).  AUD500M  (USD$353)  
announced  in  2018  for  Genomics  
Health  Futures  Mission.  
Brazil   Brazilian   Infrastructure,   Collaboration  between  five  Research  
(207,000,000)   Initiative  on   population-­‐based   Innovation  and  Dissemination  Centres  
  Precision   cohort,  rare  and   to  develop  shared  genomic  databases  
Public   Medicine   common  disease   compliant  with  GA4GH  standards.  
2015-­‐2024   cohorts   Initial  focus  on  creation  of  reference  
datasets,  anticipated  to  progress  to  
clinical  cohorts.  
Denmark   Genome   Infrastructure,   Consortium  between  four  universities,  
Faroe  Islands   Denmark     population-­‐based   two  hospitals  and  two  private  
(5,700,000)   2012-­‐   cohort,  pathogen   companies  that  aims  to  establish  a  
  project   national  platform  for  sequencing  and  
Public   bioinformatics.  Two  demonstration  
projects:  Cancer  and  Pathogens  and  
Danish  reference  genome.  Government  
investment:  DK86M  (USD13.5M)  
FarGen  Project   Infrastructure  and   Establish  Faroese  reference  genome  
2011-­‐2017   population-­‐based   and  biobank  through  sequencing  1,500  
cohort   individuals;  develop  local  competencies  
in  genome  sequencing.  Government  
investment:  DK10M  (USD1.6M)  
Estonia   Eesti   Infrastructure  and   Genomic  data  from  GWAS,  whole  
(1,400,000)   biopangas   population-­‐based   genome  and  whole  exome  sequencing  
  Estonian   cohort   from  52,000  individuals  is  linked  to  
Public   Genome   information  from  questionnaires,  
Project   health  records  and  physical  
2000-­‐ongoing   examination.  Additional  government  
investment  of €5M  (USD5.9M)  in  2017  
for  a  cohort  of  100,000  individuals.    
Finland   National   Infrastructure   Development  of  Finnish  national  
(5,490,000)   Genome   reference  database  and  IT  
  Strategy   infrastructure  to  enable  data  
Public   2015-­‐2020   integration  between  genomic  data,  
metadata  and  health  records.  Legal  and  
ethics  framework,  workforce  
development,  clinical  decision-­‐support  
tools,  public  engagement  and  
education.  Establishment  of  Genome  
Centre.  Government  investment:  €50M  
(USD$59M).  
France   Plan  France   Infrastructure  and   Initial  focus  on  sequencing  patients  
(67,000,000)     Médecine   clinical  cohorts:  rare   with  cancer,  diabetes  and  rare  
  Génomique   diseases,  cancer,   conditions,  with  the  establishment  of  a  
Public   2025   diabetes   hub-­‐and-­‐spoke  model  of  12  sequencing  
France   platforms  in  the  country,  and  two  
Genomic   national  centres  for  genomic  expertise  
Medicine  Plan   and  analysis.  Expected  to  be  capable  of  
2016-­‐2025   processing  the  equivalent  of  235,000  
  genomes  a  year  by  2020,  and  it  is  
  anticipated  that  the  program  will  be  
expanded  to  common  conditions  2020  
onwards.  Total  investment:  €670M  
(USD$799M),  of  which  €230  
(USD$273M)  is  from  industry.  
Japan   Japan   Infrastructure,   The  Japan  Genomic  Medicine  Program  
(123,000,000)   Genomic   clinical  and   is  one  of  the  strategic  priority  areas  of  
  Medicine   population-­‐based   the  Japan  Agency  for  Medical  Research  
Public   Program   cohorts,  drug   and  Development  (AMED).    Five  
2015-­‐   discovery   initiatives  underpin  the  Genomic  
Medicine  Program:  Tailor-­‐Made  
Medical  Treatment  (mapping  disease  
susceptibility  and  pharmacogenomics  
in  a  cohort  of  100,000  patients);  
Platform  for  Promotion  of  Genome  
Medicine  (maximising  the  efficiency  of  
clinical  and  research  infrastructure,  and  
undertaking  a  research  program  in  
ethics,  legal  and  societal  implications);  
 an  Integrated  Database  of  Clinical  and  
Genomic  Information;  a  Platform  for  
Genomics-­‐based  Drug  Discovery;  and  
the  Tohoku  Medical  Megabank  project  
(developing  a  cohort  of  150,000  
individuals  with  deep  phenotyping  and  
genomic  analysis).  Government  
investment  in  2017:  JPY10.2B  
(USD$90.05M)  
Netherlands   RADICON-­‐NL   Rare  disease   Trialling  new  technologies  such  as  rapid  
(17,000,000)     2016-­‐2025   whole  genome  sequencing  in  small  
  cohorts  to  determine  utility.  
Public   Health-­‐ Infrastructure   Establish  single  interconnected  
Research   infrastructure  to  combine  genomic  and  
Infrastructure   other  health  data  from  multiple  
2015-­‐   sources.  
Qatar    ‫ ﻕقﻁطﺭر‬  Infrastructure  and   Creation  of  large  data  sets  of  around  
(2,570,000)   ‫ ﺏبﻱيﻭوﺏبﻥنﻙك‬  population-­‐based   6,000  deeply  phenotyped  individuals  
Public   Qatar  Genome   cohort   with  whole  genome  sequencing  data,  
2015-­‐   available  to  researchers.  Workforce  
development.  Development  of  a  
national  policy  on  genomic  research.  
Clinical  genome  interpretation  
reporting  service  to  be  introduced.  
 
Saudi  Arabia   Saudi  Human   Infrastructure,   Aims  to  sequence  100,000  individuals  
(32,280,000)   Genome   clinical  cohorts  (rare   and  create  a  national  network  of  7  
Public   Program   and  common   sequencing  laboratories,  catalogue  
2013-­‐   genetic  conditions)   Saudi-­‐specific  mutations  in  known  
and  population-­‐ disease  genes,  catalogue  normal  
based  cohorts   genetic  variation  in  the  Saudi  
  population,  catalogue  mutations  for  
recessive  and  common  genetic  
disorders  of  unknown  cause.  
Government  investment:  SAR300M  
(USD$80M).  
 
Switzerland   Swiss   Infrastructure   Development  of  a  distributed  federated  
(8,000,000)     Personalized   network,  integrating  existing  
  Health   heterogeneous  systems  at  partner  
Public:  mixed   Network   institutions.  Development  of  common  
federal  and   2017-­‐2020   data  standards  and  semantics.  
canton   Implementation  of  a  general  consent.  
Definition  of  a  data  sharing  policy  
framework.  Government  investment:  
CHF68M  (USD69M).  
 
Turkey   Türkiye   Infrastructure,   Establish  Turkish  reference  genome  
(79,000,000)   Genom  Projesi     clinical  cohorts  (rare   and  clinical  genomics  infrastructure.  
Public   Turkish   disease,  cancer,   Plans  to  sequence  100,000  individuals.  
Genome   neurological  
Project   disease)  and  
2017-­‐2023   population-­‐based  
  cohort  
 
United   Genomics   Infrastructure  and   100,000  Genomes  project  is  driving  the  
Kingdom   England   clinical  cohorts:  rare   establishment  of  the  infrastructure  
(65,640,000)     2013-­‐2021   diseases,  cancer,   required  for  the  delivery  of  diagnostic  
  infectious  disease   genomics  services  in  England,  including  
Public   a  centralized  sequencing  facility,  
standardized  bioinformatics  and  
analysis  pipeline,  biorepository  and  
data  centre.  13  NHS  Genomic  Medicine  
Centres  recruiting  participants  and  
returning  results.  Health  Education  
England  delivering  workforce  training.  
Government  investment:  £300M  
(USD$415M).  
Scottish   Infrastructure,   Establishment  of  two  sequencing  
Genomes   clinical  cohorts  (rare   laboratories,  and  four  clinical  genomics  
Partnership   disease  and  cancer),   centres.  Recruiting  to  100,000  
2015-­‐   population-­‐based   Genomes  Project,  and  compiling  
cohort   reference  genomic  data.  Government  
  investment  £6M  (USD$8M).  
 
Welsh     Infrastructure,   Establishment  of  Genomic  Medicine  
Genomics  for   clinical  cohorts  (rare   Centre,  recruiting  to  100,000  Genomes  
Precision   disease  and  cancer),   project,  and  compiling  reference  
Medicine   population-­‐based   genomic  data.  Government  investment  
Strategy   cohort   £6.8M  (USD$9M).  
2017-­‐    
Northern   Infrastructure,   Establishment  of  Northern  Ireland  
Ireland   clinical  cohorts  (rare   Genomic  Medicine  Centre,  recruiting  to  
Genomic   disease  and  cancer),   the  100,000  Genomes  project,  and  
Medicine   population-­‐based   compiling  reference  genomic  data.  
Centre   cohort   Government  investment  £3.3M  
2017-­‐     (USD$4.6M)  
USA   National   Infrastructure  and   Identification  of  barriers  to  
(321,000,000)     Human   clinical  cohorts   implementation  of  genomics  in  clinical  
  Genome   care  and  development  of  solutions  and  
Mixed:  private   Research   best  practices  for  widespread  
insurance  and   Institute   dissemination.  Landmark  projects  
public   (NHGRI)     include  the  Undiagnosed  Diseases  
2007-­‐   Network  (UDN),  Clinical  Sequencing  
 Evidence-­‐Generating  Research  (CSER)  
consortium,  Electronic  Medical  Records  
and  Genomics  (eMERGE)  Network,  
Implementing  Genomics  in  Practice  
(IGNITE)  Network  and  the  Newborn  
Sequencing  in  Genomic  Medicine  and  
Public  Health  (NSIGHT)  program,  and  
the  Clinical  Genomics  (ClinGen)  
Resource.  Government  investment:  
USD$427M.  
Precision   Population-­‐based   Aims  to  create  one  of  the  largest,  most  
Medicine   cohort   diverse  biomedical  datasets  through  
Initiative  (All   engaging  1,000,000  volunteers  and  
of  Us)   combining  genomic  data  with  
2016-­‐2025   information  from  electronic  health  
records,  questionnaires,  physical  
evaluations  and  biosensors.  
Government  investment:  USD$500M  
over  first  two  years.