News Releases & Research Results AMED’s “GEM Japan” Project Joins GA4GH Driver Projects

Japan Agency for Medical Research and Development

• GA4GH is an international organization aiming to advance medical care and medicine through sharing genome data among countries in consideration of international standard ethics. As of 2019, over 500 organizations (organizations allocated government research funds, other research organizations, corporations, etc. and 15 institutions including AMED from Japan) from 50 countries have joined the organization.
• In March 2019, “GEM Japan”, whose purpose is to integrate the results of AMED projects toward the realization of genomic medicine in Japan, was designated as a GA4GH driver project, being highly evaluated as a world-leading genomic research project. This is the first driver project in Asia.
• Through the project, AMED aims to reinforce a nationwide alliance of universities, research institutes and hospitals which are committed to pursuing common goals in advancing genome-based medicine, and play a leading role in establishing international standards for genome data sharing. This project will accelerate the social implementation of genomic medicine in Japan. In addition, acting as a leader in drafting international standards for genomic medicine data is expected to result in robust development of a genomic medicine-related industry in Japan.
• Observing Japanese legal and ethical restrictions on genome data, AMED will promote cross-border data sharing and support genome data-based projects which aim to establish methods for the diagnosis of rare diseases and undiagnosed patients, selection of optimal treatment methods for individual patients, selection of optimal diagnosis and treatment methods for wide ranging diseases including those related to lifestyle as well as those for prevention, thereby contributing to advancing healthy longevity in Japan and the world.

Japan Agency for Research and Development (AMED, President Makoto Suematsu) proposed GEM Japan (Genome Medical Alliance Japan) for a driver project^*2 to Global Alliance for Genomics and Health (GA4GH) ^*1 and it has been approved. Through participating in the driver project, AMED will contribute to the public implementation of genomic medicine in Japan from the research and development aspect. Cooperation in data sharing^*3 is expected to achieve great advances in worldwide disease genome research, and it is also expected to lead to robust development of a genomic medicine-related industry.

Given the tremendous advances and developments in large-scale genomic analysis technologies and information processing technologies in recent years, human genome data and health care-related big data have been receiving attention. Thus, responsible and secure data sharing is becoming increasingly important in advancing research on maintaining and improving human health, not only in Japan but also worldwide. GA4GH is an organization spearheading global efforts toward realizing this and AMED became a member of GA4GH in 2016. Since October 2017, fifteen projects have become GA4GH driver projects; including “All of Us” (US), “Genomics England” (UK), “Australian Genomics” (Australia) and “CanDIG” (Canada). Recently, GEM Japan was designated as one of them together with 6 other projects.

The AMED GEM Japan project aims to realize genomic medicine by creating a nationwide alliance of universities, research institutes, and hospitals involved in AMED projects for achieving genomic medicine including data sharing, and promote proper sharing of personal genome data and health care-related data to be used in research. Specific AMED initiatives in this regard are projects according to “Policy for Data Sharing in Realizing Genomic Medicine,” which are the Program for an Integrated Database of Clinical and Genomic Information^※4, Platform Program for Promotion of Genome Medicine^※5, BioBank Japan Project for Genomic and Clinical Research^※6, and Tohoku Medical Megabank Project^※7. For the time being, AMED will provide allele frequency in the Japanese population based on Japanese whole genome analysis^*8 and Japanese disease variant^*9 information, and hold AMED-GA4GH GEM Japan workshops.

Giving adequate consideration to legal and ethical requirements, including obtaining the consent of research participants regarding the use of genome data and protection of personal information, AMED will promote data sharing that crosses both national and international boundaries to contribute to genome-based diagnosis in patients with difficult-to-diagnose diseases as well as to achieving genomic medicine and healthy longevity worldwide.

*1 GA4GH (Global Alliance for Genomics and Health)

Inaugurated in 2013, GA4GH is a policy-framing and technical standards-setting organization which seeks to enable responsible genomic data sharing within a human rights framework. As of 2019, over 500 institutions (including AMED and 14 Japanese institutions) from 50 countries have joined. Since 2017, 15 driver projects and 8 work streams^*10 in which technical experts gather have been actively working toward the realization of genomic medicine by 2022.

*2 Driver Projects

GA4GH Driver Projects are real-world genomic data initiatives that help guide GA4GH development efforts and pilot GA4GH tools. Stakeholders around the globe advocate, mandate, implement, and use GA4GH frameworks and standards in local contexts. The driver projects include national initiatives such as Genomics England (UK), Australian Genomics (Australia) and All of Us (US) and global initiatives such as Matchmaker Exchange and BRCA Challenge. Global coordination is expected among the driver projects.

Genomics England

Genomics England is a company owned by the UK Department of Health and was set up to deliver the 100,000 Genomes Project. This flagship project is sequencing 100,000 whole genomes from NHS patients and their families.

Australian Genomics

Australian Genomics brings together more than 70 partner organizations committed to integrating genomic medicine into healthcare across Australia.

All of Us

All of Us Research Program of the US National Institutes of Health is a historic effort to gather data from one million or more people living in the United States to accelerate research and improve health.

Matchmaker Exchange

The Matchmaker Exchange project was launched in October 2013 to find genetic causes for patients with rare diseases. This involves a growing federated platform (exchange) to facilitate the matching of cases with similar phenotypic and genotypic profiles (matchmaking) through standardized application programming.

BRCA Challenge

The BRCA Challenge aims to advance understanding of the genetic basis of breast cancer, ovarian cancer and other diseases by pooling data on BRCA1/2 genetic variants and corresponding clinical data from around the world.

*3 Data Sharing

 Sharing of genome and other data obtained by research within research groups and with third parties

*4 Program for an Integrated Database of Clinical and Genomic Information

This program aims to verify associations between genome data and disease specificity and clinical characteristics in the Japanese population, and construct a database integrating clinical information and genetic information that can be used in clinical practice and research. In parallel, the program promotes cutting-edge R&D using the integrated research platform. Started in fiscal 2016.

*5 Platform Program for Promotion of Genome Medicine

A program aiming to realize genomic medicine in which existing biobanks are reconfigured as research platforms and hubs for coordination, and the platforms are used for integrated research with set goals. Began in fiscal 2016.

*6 BioBank Japan Project for Genomic and Clinical Research

A project aiming to realize genomic medicine in which Biobank Japan, one of the 3 major biobanks in Japan and a world-leading disease biobank, promotes the use of its samples and information, coordinates with other biobanks in searches of samples and information that cut across organizations. Efforts are also made to ensure that Japanese biobanks are used as a whole entity. Started in fiscal 2018.

*7 Tohoku Medical Megabank Project

A project to provide a research platform useful in genomic medicine. Activities include conducting a health survey of 150,000 people in the areas which have been affected by the Great East Japan Earthquake and distributing the results, supporting medical care in local areas through the dispatch of medical professionals, forming healthy population cohorts for prospective research that includes genomic information from the 150,000 people and creating a biobank from the samples and data obtained from them. Began in fiscal 2011.

*8 Whole genome analysis

A genome means a set of genetic information of organisms and analyzing all genomes is called whole genome analysis. For humans, it is the analysis of all information from about 3 billion base pairs of genomes per person.

*9 Variants

Variants are genetic sequences differing from the standard ones. They include substitution, deletion and insertion variants.

*10 Work Streams

GA4GH Foundational and Technical Work Streams develop standards and tools that are designed to overcome technical and regulatory hurdles to international genomic data-sharing. The 8 work streams carry out their work in coordination with the driver projects.

Japan Agency for Medical Research and Development (AMED)
GEM Japan Contact Office
E-mail: GEMJ-contact”AT”amed.go.jp

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