This is a catalogue of large-scale (national/regional) policies/strategies, implementation frameworks, demonstration projects and population-scale studies that are informing the implementation of genomics into health systems.
The catalogue currently consists of 61 initiatives from around 30 locations.
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Information about the initiatives was obtained from publically available sources.
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What is the catalogue's Purpose?
In January 2014, the National Human Genome Research Institute and the Institute of Medicine of the U.S. National Academy of Sciences convened a symposium of global leaders in genomic medicine from the U.S. and 25 other countries. The symposium identified areas that would benefit from multinational collaboration such as evidence generation, workforce development and policy and regulatory issues.
In the policy and regulation space it was recommended that a useful next step would be a more systematic mapping of ongoing implementation projects worldwide and an inventory of available evidence and evidence-generation projects.
In the same year, the Italian Ministry of Health organised a meeting of the 28 Chief Medical Officers (CMO) of the EU member states, plus the CMO from Norway, at which the CMOs were invited to discuss the policy implications of health genomics. The results of that group’s activity also suggested a need for a coordinated effort to develop and harmonise policies across the EU.
This catalogue is an attempt at mapping different countries’ implementation projects and providing that information in a repository so it can be widely accessed and shared.
 Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL et al: Global implementation of genomic medicine: We are not alone. Sci Transl Med 2015, 7(290):290ps213.
 Mazzucco W, Pastorino R, Lagerberg T, Colotto M, d'Andrea E, Marotta C, Marzuillo C, Villari P, Federici A, Ricciardi W et al: Current state of genomic policies in healthcare among EU member states: results of a survey of chief medical officers. Eur J Public Health 2016
what INFORMATION is in the catalogue and Who is the audience?
For each entry (where available):
Title & Description
Type of activity
Policy Issues considered
Website (for further information)
For the demonstration projects and population studies additional information has been included (where available):
Type of Genomic Data
How are the entries categorised?
Policy / Implementation Frameworks
these are activities which have utilised a document that outlines the policy issues and implementation challenges as a mechanism to facilitate implementation
Demonstration Projects / Alliances / Initiatives
these are projects that are implementing genomics into clinical care in a demonstration/phased approach and in doing so are highlighting the barriers on a small scale first and generating the evidence on how to overcome those issues
Population – specific genetic variation study
these are population-scale studies of the genetic variation of the local populations (some with a disease focus, others mapping variation within the healthy population)
Complete Integration / Implementation Roadmaps
these are activities where a roadmap for complete integration of genomics into routine clinical practice is being adopted