Access to large amounts of flexible computing resource can be of interest to organisations with large data sets, such as genomic databases. Developments in personalized medicine and AI enhance the relevance of cloud computing for genomic and health-related research.

February 29, 2020 marks the 13th International Rare Disease day. Established by the European Organization for rare disease, this day of observance aims to raise awareness and improve access to treatment. We’re here with human geneticist Heidi Rehm to talk about the opportunity of genomic and health related data sharing to advance rare disease research.

The GA4GH Steering Committee approves the Service Info and Service Registry APIs—standards that improve service discovery by providing a common format for describing and listing web services.

Given the importance of SCCs to international data transfers, the December 2019 opinion of Advocate General Saugmandsgaard Øe (AG) on the suitability of standard contractual clauses (SCCs) in Facebook Ireland and Schrems, C-311/18 (“Schrems II”)  has caused some consternation.

January 28, 2020 marks the 7th anniversary of GA4GH – the international standards organization for genomics. On Episode 2 of the OmicsXchange, we’re here to speak with Peter Goodhand, CEO of GA4GH, and Ewan Birney, Chair of the GA4GH Executive Committee, as we reflect on GA4GH’s role – past, present, and future – in advancing genomic and health-related data sharing.

Edward Dove (University of Edinburgh), Yann Joly (McGill University), and Jaime Guidry Auvil (National Institutes of Health) have been named new GA4GH Work Stream Leads and members of the GA4GH Steering Committee.

Article 6(1) of the GDPR states that: “Processing shall be lawful only if and to the extent that at least one of the following applies: […]”; 6(1)(a)–(f) present the different bases. Does “at least one” legal basis suggest that a number of bases – could be used at the initial point of gathering personal data, thereby creating greater flexibility when considering the legal basis for further, secondary processing of those data?

The GA4GH Steering Committee has approved the Data Repository Service (DRS) API, a standardized set of access methods that are agnostic to cloud infrastructure. The DRS API completes the suite of approved APIs from the GA4GH Cloud Work Stream, which work together to allow researchers to discover algorithms across different cloud environments and send them to datasets they wish to analyze.

The GA4GH Steering Committee has approved the GA4GH Passports and Authentication & Authorization Infrastructure (AAI) specifications produced by the GA4GH Data Use & Researcher Identities (DURI) and Data Security Work Streams, respectively. The two standards work in conjunction to reliably authenticate a researcher’s digital identity and automate their access to a requested genomic dataset. 

December 10 is International Human Rights Day. For our first guest here on the OmicsXchange Podcast produced by GA4GH, we are talking with Dr. Bartha Maria Knoppers – professor of human genetics and the director of the Center of Genomics and Policy at McGill University – on how article 27 of the 1948 Universal Declaration of Human Rights is important for global genomic data sharing.

There has been an emerging consensus in the genomic research community that “broad consent” is an ethically and legally permissible form of consent. For example, the Council of Europe’s recent recommendations on protection of health-related data expressly permit broad consent for scientific research.

Genomics England has implemented the standard GA4GH API htsget to serve all of its genomic data from the 100,000 Genomes Program and the Genomic Medicine Service.

For research involving human participants, consent is a foundational principle in both law and ethics that supports participant autonomy.  In the context of data processing, and the GDPR specifically, consent is only one of several legal bases for the processing of personal data, including special-category data such as genomic and health-related data. That is, the data subject’s consent may not be the lawful basis under which data processing occurs. Nevertheless, seeking consent may remain an ethical requirement, even if it is not necessary for the purposes of data processing under the GDPR.

The European Joint Programme on Rare Diseases (EJP RD) is a GA4GH Driver Project working towards the advancement and innovation of rare disease research, funding, diagnosis, treatments, and clinical trials. The Driver Project recently shared the story of a patient named Yakup, whose family had spent years searching for answers to a set of neurological symptoms that afflicted him since birth.

The Global Alliance for Genomics and Health (GA4GH) has unanimously approved five new standards to enable responsible international genomic data sharing.

Crypt4GH, a new standard file container format from the Global Alliance for Genomics and Health (GA4GH), allows genomic data to remain secure throughout their lifetime, from initial sequencing to sharing with professionals at external organizations.

The Data Security Infrastructure Policy (DSIP) was developed as a foundational policy of the Global Alliance for Genomics and Health (GA4GH) by the Data Security Work Stream to facilitate the responsible sharing and processing of genomic data.

The GA4GH Steering Committee recently approved Phenopackets, a standard file format for sharing phenotypic information. The Phenopackets standard aims to facilitate communication between the research and clinical genomics communities by creating an ecosystem of interoperable tools and resources that can use phenotypic data with fewer barriers. 

The Tool Registry Service (TRS) API is one of a series of technical standards from the Cloud Work Stream that together allow genomics researchers to bring algorithms to datasets in disparate cloud environments, rather than moving data around.

The GA4GH Variation Representation (VR) specification, produced by the Genomic Knowledge Standards Work Steam, provides a flexible framework of computational models, schemas, and algorithms to precisely and consistently exchange genetic variation data across communities.

On Friday, October 27, the GA4GH Data Use and Researcher Identity (DURI) Work Stream hosted the webinar “Automating access to human genomics datasets: the GA4GH Data Use Ontology in action.” More than 100 individuals tuned in to learn about the Data Use Ontology (DUO), a GA4GH standard for automating access to human genomics data. The webinar featured presentations from eight international speakers who have contributed to DUO’s development or implemented it at their local institutions. Another six implementers attended as panelists to answer audience questions following the presentations. Speaker slides and a recording of the webinar are available online.

On January 23, 2019, the European Commission (EC) issued its adequacy decision on Japan. As one of the most active countries in large-scale OMICS research, with participation in initiatives such as the International Cancer Genome consortium (ICGC), the International Epigenome Consortium (IHEC), GA4GH and the Human Cell Atlas, this is welcome news for Japanese researchers. In addition to being the first adequacy decision since the GDPR entered into force, it also marks the first mutual decision. As such, Japan has also deemed the EU adequate under its Act on the Protection of Personal Information (APPI).

CRAM is an international community standard file format for storing compressed DNA sequencing data. In this post, adapted from an earlier post on his personal blog Data Geekdom, James Bonfield dispels a few myths about the format and its ability to meet the community’s needs for low cost storage of large scale sequencing data. Bonfield is a member of the GA4GH Large Scale Genomics Work Stream and a software developer at the Sanger Institute. He is the primary maintainer of the CRAM standard, which was originally theorized in 2010 in a paper by Fritz et al.

For genomic data to meet their potential to improve human health and medicine, DNA donors must be willing to share their data for secondary use. But what factors impact a person’s willingness to trust an individual or organization enough to share their data with them? A study recently published by the Participant Values Task Team of the GA4GH Regulatory and Ethics Work Stream answers this question by identifying key components of trust. 

The GA4GH Regulatory and Ethics Work Stream (REWS) has undertaken a comprehensive review of its policy frameworks and guidance documents to ensure they meet the demands of the current era of genomic medicine and research. As part of this review, REWS has released updated versions of the GA4GH Consent Policy and the GA4GH Data Privacy and Security Policy and reaffirmed the Framework for Responsible Sharing of Genomic and Health-Related Data.

The GA4GH Data Use and Researcher Identities Work Stream will host a webinar on September 27 to demonstrate how researchers and data custodians use the GA4GH Data Use Ontology (DUO) standard to streamline access to controlled-access datasets.

Article 35 of the GDPR requires that data controllers perform a Data Protection Impact Assessment (DPIA) before processing personal data if the processing “is likely to result in a high risk to the rights and freedoms of natural persons.”

Under the GDPR, organizations within a given sector or representative body can develop Codes of Conduct to help overcome key data protection challenges. Developing an approved Code is a serious endeavour and difficult to achieve, but can be of great benefit, including by better enabling responsible international data sharing in genomics and health-related research. Such Codes complement rather than supersede the GDPR.

The GDPR now explicitly mentions, and even defines, pseudonymisation, namely the processing of personal data so they can no longer be attributed to a specific data subject without the use of additional information (provided certain measures are in place to prevent re-identification). Coding is commonly used in health research and can, in some cases, act as a pseudonymisation technique. The question arises as to whether pseudonymised data are no longer personal data and hence no longer subject to the GDPR.

GA4GH Chair Ewan Birney participated in the creation of the first reference human genome and is now involved in the roll-out of large-scale clinical genomics. His story is illustrative of a much bigger movement of genomics into healthcare over the past decade.

Article 89(2) allows derogations from data subject rights where personal data are processed for scientific/historical research or statistical purposes. Article 89(3) allows derogations where data are processed for archiving purposes in the public interest. This Brief only considers provisions relating to scientific research.

Data controllers that plan to transfer personal data to a non-EU/EEA country or international organization (including for onward transfers of personal data from the third country or an international organization to another third country or to another international organization) must be mindful of the GDPR’s strict provisions on international data transfers.

ELIXIR and GA4GH are creating technical and regulatory solutions to enable a federated international ecosystem for human genomic data.

New GA4GH Data Security Work Stream Leads David Bernick and Jean-Pierre Hubaux aim to build on the progress that the work stream has done and tackle new challenges in genomic data privacy and security.

On Friday April 5, GA4GH held the #CRAM4GH Twitter chat. Guest “panelists” and experts James Bonfield, Thomas Keane, and Ewan Birney helped answer questions on the CRAM file format for genomic data compression.

Autism Sharing Initiative (ASI) – a new 2019 Driver Project – is positioned to accelerate autism research through data sharing and collaborating on GA4GH standards.

Consent under the GDPR must generally be given for a specific purpose. But Recital 33 broadens this to allow “consent to certain areas of scientific research when in keeping with recognised ethical standards for scientific research”. The justification given is that in research, it’s often not possible to fully identify the purpose at the time of data collection.

CRAM, the data compression standard for genomics, is quickly transitioning to the field’s preferred file format for storing sequence reads.

In a letter to the editor of Nature Biotechnology published on 4 March 2019, members of the Global Alliance for Genomics and Health present current and future extensions of the Beacon API — an open-source web-based protocol for making anonymised genomic data discoverable for research and clinical purposes.

Informed consent is a powerful ethico-legal requirement in most interventional biomedical research involving human participants. But consent to participate in research is a distinct notion from consent pursuant to the GDPR.

The Steering Committee of the Global Alliance for Genomics and Health (GA4GH) unanimously approved the Data Use Ontology (DUO) for inclusion in its suite of technical standards for sharing genomic and health related data.

Research participants enjoy the same rights under the GDPR, generally speaking, as do other individuals whose personal data are processed (collectively known as “data subjects”). The right of access to one’s personal data is the first among a constellation of data-subject rights guaranteed by the GDPR, along with a right to rectification and erasure, among others.

GEnome Medical alliance Japan (GEM Japan), H3Africa, Swiss Personalised Health Network (SPHN), the Autism Sharing Initiative, EpiShare, EUCANCan, and the European Joint Programme on Rare Diseases (EJP RD) have been named 2019 GA4GH Driver Projects.

A new transcontinental project will pilot nearly all of GA4GH’s genomic data standards to enable a virtual cohort of more than 1.4 million individuals from Europe, Canada, and Africa.

The GA4GH Data Use Ontology (DUO) allows users to semantically tag genomic datasets with usage restrictions, allowing them to become automatically discoverable based on a health, clinical, or biomedical researcher’s authorization level or intended use.

The BRCA Exchange, a global resource that includes data on thousands of inherited variants in the BRCA1 and BRCA2 genes, is now available through a website and a new smartphone app. A paper detailing the development of the BRCA Exchange was published January 8, 2019 by PLOS Genetics.

Individual opportunity increasingly depends on automated decisions by companies and (prospective) employers. Any automated decision-making, including profiling, is subject to the usual requirements of the GDPR.

In a paper released today in the American Journal of Human Genetics, members of the Global Alliance for Genomics and Health (GA4GH) highlight the diverse approaches being taken around the world to integrate genomics into healthcare and present a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.

It is with great enthusiasm and gratitude that we announce several changes to the GA4GH leadership team: Heidi Rehm replaces David Haussler as Vice Chair; Moran Cabili and Tommi Nyrönen replace Ravi Pandya and Anthony Philippakis as DURI Work Stream Leads; Michael Baudis replaces Harindra Arachchi as Discovery Work Stream Lead; and Jean-Pierre Hubaux replaces Paul Flicek as Data Security Work Stream Lead.

In the eyes of the GDPR, not all data are equal. Rather, ‘special categories’ of personal data are given additional protection. In the December 2018 installment of the GDPR Forum Brief, Johan Ordish and Alison Hall of the PHG Foundation discuss those of relevance to the genomics and health community.

The GA4GH Regulatory and Ethics WorkStream (REWS) has released a Korean translation of its Framework for Responsible Sharing of Genomic and Health Related Data. Produced by by Hannah Kim and So Yoon Kim of Yonsei University in Seoul, South Korea, the new translation will allow institutions across the region to integrate GA4GH data sharing policy frames within their local contexts.

Nearly six years ago, 50 colleagues came together in a conference room in New York City to discuss the future of genomics. With delegates from eight different countries, they represented an international, interdisciplinary field of researchers, clinicians, and professionals who knew that massive amounts of data were on the horizon and that a plan was needed to make the most of it all. One thing was clear: the plan needed to be global.

In September, members of the GA4GH Regulatory and Ethics Work Stream (REWS) published a special issue of the journal Human Genetics, focused on genomic data sharing. The series of review articles includes an overview of the regulatory frameworks that have come to bear in seven different countries.

Refget, a new API from the Large Scale Genomics Work Stream retrieves genomic reference sequences using “checksums” — small algorithms that tag a bit of data with an identifier that can be used to verify its integrity.

The GDPR has a global territorial reach. Article 3 states that the GDPR applies to the processing of personal data in the context of the activities of an establishment (e.g. office, site) of an organization in the European Economic Area (EEA, which constitutes the 28 EU Member States as well as Iceland, Liechtenstein, and Norway), regardless of whether the processing takes place in the EEA or not.

The GA4GH Cloud Work Stream has announced version 1 of its Workflow Execution Service (WES) API — a protocol for running the same genomic data analysis in multiple cloud environments.

ELIXIR and the Global Alliance for Genomics and Health (GA4GH) have announced the release of the Beacon API v1 — a data discovery protocol that allows users to determine the presence or absence of a particular allele in a dataset, without disclosing any further data differentiating the individuals it contains.

We’re happy to announce that the GA4GH 6th Plenary Meeting Report is now available on our website, complete with session summaries, videos, and slides.

A paper published in the October, 2018 special issue of Human Mutation features the ways in which the Clinical Genome Resource (ClinGen) is contributing to GA4GH standards development.

Anonymisation is the irreversible alteration of data so that its human subjects are no longer identifiable. Though this makes it incompatible with longitudinal follow-up, and is therefore generally discouraged in precision medicine, it can be an attractive option to comply with data protection law. Indeed, the GDPR does not regulate anonymised data at all, and insists on keeping data in an identifiable form for no longer than necessary for the purposes for which it is processed.

GA4GH will select up to five new Driver Projects for 2019, focusing on international genomic data initiatives that can increase the organization’s global representation, have significant scientific merit, and capacity to contribute to GA4GH development efforts.

Three new deliverables from the GA4GH Connect strategic roadmap, released today at the GA4GH 6th Plenary Meeting, address issues of variant discovery, reference sequence harmonisation, and cloud computing.

A new resource developed by the Variant Interpretation for Cancer Consortium (VICC), a GA4GH Driver Project, makes clinical interpretation of variants much more consistent by aggregating known information about mutations associated with non-hereditary cancer.

A new task team of the GA4GH Regulatory and Ethics Work Stream, the GDPR and International Health Data Sharing Forum, will begin publish monthly “GDPR Briefs” that answer important questions about the GDPR’s impact on various aspects of international health research and genomic and health-related data sharing, and that further explore the various issues raised in an initial Primer, released on September 4.

The General Data Protection Regulation (GDPR), which took full legal effect across the European Union (EU) on 25 May 2018, has a number of implications for international health research involving the collection, use, and cross-border sharing of people’s personal data. Such research includes genomics research.

In a new video to accompany the recent publication about developing an international survey to gather global attitudes toward genomics, Your DNA Your Say study authors discuss the “why” and the “how” of the survey they built, and the complexities and nuances of translating it into different languages in order to reach as many global lay publics as possible.

In an article published in the European Journal of Human Genetics, members of the Global Alliance for Genomics and Health (GA4GH) propose a novel “registered access” data access model that aims to increase and improve access to genomic data for use in research.

In a comment piece for <em>The Lancet Oncology</em>, a collaborative team of international researchers from GA4GH and beyond outlines the imperative for maintaining public trust in the use of health data for research.

The Global Alliance for Genomics and Health (GA4GH) has always prioritized responsible, ethical data sharing. Responsibility and the right to benefit from genomic research are at the heart of everything we do. After recent discussions in the international, mainstream media, this message bears repeating.

In an article recently published in the European Journal of Human Genetics, members of the Global Alliance for Genomics and Health (GA4GH) propose a new model for data access termed “registered access.” This tier between open access and controlled access aims to increase and improve access to genomic data for use in research.

The new Framework developed by GA4GH Member organization H3Africa aims to guide ethically responsible biomedical research in Africa and builds on the work of the GA4GH Regulatory and Ethics Work Stream.

The All of Us Research Program aims to gather data from one million or more people living in the United States to accelerate research and improve health. It will use GA4GH data sharing standards to ensure its efforts are compatible with similar initiatives around the globe.

GA4GH regulatory and ethics lead Bartha Maria Knoppers discusses the Framework for Responsible Sharing of Genomic and Health-Related Data, broad consent, the European General Data Protection Regulation (GDPR), and planned REWS activities for the coming year.

In the first in a quarterly series of guest blog posts from the GA4GH Chair, @EwanBirney describes the recent structural changes to the organization and the 2018 Strategic Roadmap.

As a pioneer in genetics research, a leader in the Human Genome Project, and the founding director of the Wellcome Sanger Institute (a GA4GH Host Institution), Sir John was one of the most vocal champions of the open science mandate upon which our organization was founded—we are deeply indebted to him and to his contributions to the field.

Founding GA4GH Chair David Altshuler discusses the organization’s history and the need to enable responsible genomic data sharing — a need he says is even more relevant today than it was five years ago.

Vivienne Parry, Head of Engagement at Genomics England, discusses the 100,000 Genomes Project Participant Panel and the critical impact its voice has on the activities of the organization.

The Canadian Genomics Cloud, a national cloud-based infrastructure for genomics data sharing, will develop an end-to-end software solution that complies with GA4GH standards from the ground up.

The Global Alliance for Genomics and Health (GA4GH) has announced a series of more than two dozen deliverables to be launched in 2018 and developed over the next one to three years, laying the groundwork for real-world genomic data sharing by 2022.

The GA4GH 2018 Strategic Roadmap includes the first 28 standards and frameworks to be developed under GA4GH Connect, a new phase of the organization focused on aligning with the key needs of the international genomic data community.

The Global Alliance for Genomics and Health (GA4GH) has struck formal collaborations with 15 international genomic data initiatives as 2017 Driver Projects, including Genomics England, Australian Genomics and the U.S. All of Us Research Program. The announcement, made at the GA4GH 5th Plenary Meeting, comes as part of the launch of GA4GH Connect: A 5-year Strategic Plan.

Patient A:II-1 was born in the Netherlands three weeks early with short, flattened bones in her upper body. She seemed otherwise healthy until her horseshoe-shaped kidneys began to fail.

If every individual has millions of unique variants in their DNA, how can clinicians be expected to tease out a handful of disease causing mutations from a haystack of inconsequential variants? To aid their cause, public human genomic variant databases have sprung up to catalog variants that cause (or do not cause) disease.

In an article originally published on Medium the authors describe their vision for building an open, compatible, and secure approach to data within the life sciences research community.

Justin Vachon was born in 1997 with a neurological disorder so rare it had never been seen in a Canadian clinic before. His family had to wait until 2016 for the genetic underpinnings for his disorder to be identified.

The Global Alliance for Genomics and Health (GA4GH) welcomed its 500th Organizational Member this week, solidifying its role as the international standards setting body for genomic and health-related data.

Francis Collins and Harold Varmus will be at the GA4GH 5th Plenary Meeting in Orlando, Florida to help launch the organization’s 5-year strategic plan on October 17, 2017. Drs. Varmus and Collins, who are both members of the GA4GH Strategic Advisory Board and hold a legacy of commitment to the organization’s mission, will also discuss the importance of international open science following the launch event.

GA4GH leaders and key participants recently came together at the Wellcome Trust Genome Campus in Hinxton, UK to discuss a strategic plan for the organization over the next five years.

In a perspective paper published in the New England Journal of Medicine (NEJM), members of the Global Alliance for Genomics and Health (GA4GH) Clinical Cancer Genome Task Team call on the international community to put more resources – people, data, infrastructure and policy change – toward cancer genomic data sharing.

In a paper recently published in the Journal of the American Medical Information Association, a team of GA4GH security experts put forth three new strategies for mitigating the risks of cyber attacks on Beacon datasets.

If you have used a GA4GH product or data sharing exchange in your research or clinical practice, we would love to hear about its impact.

The BRCA Exchange aims to advance our 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

In a Correspondence to Nature Magazine released this week, GA4GH Executive Director Peter Goodhand and other members of the Global Life Sciences Data Resources (GLSDR) Working Group call for a global coalition of data resources that would ensure important life sciences data remain freely available to the scientific community well into the future.

Patient A:II-1 was born in the Netherlands three weeks early with short, flattened bones in her upper body. She seemed otherwise healthy until her horseshoe-shaped kidneys began to fail.

In February 2017, GA4GH hosted a symposium in the Medical Sciences and Public Health track of the 2017 Annual Meeting of the American Association for the Advancement of Science (AAAS).

Almost sixty percent of the human population resides in Asia and Africa, but only a fraction of the world’s human genomic sequencing efforts cover that community. That’s more than 4 billion individuals whose genomes are not well represented by current sequencing efforts, placing them squarely outside the promise of precision medicine.

The GA4GH Regulatory and Ethics Working Group (REWG) has published a new policy online developed by its Ethics Review Equivalency Task Team.

In his 2016 State of the Union Address, former U.S. president Barack Obama announced a “Cancer Moonshot” project to dramatically accelerate cancer research and improved prevention, diagnosis, and treatment efforts.

The Beacon Project of the Global Alliance for Genomics and Health (GA4GH) and ELIXIR, the European infrastructure for life-science data, announced today an expansion of their partnership  to improve the discoverability of European genomic data.

Back in May 2016, the GA4GH Participant Values task team launched a global research study to probe public attitudes toward sharing DNA and medical data. The project, Your DNA, Your Say, is unique in its delivery.

Last week, Big Data 2 Knowledge (BD2K) held its annual all hands 2-day meeting, followed by a 1-day public symposium on open data science.  BD2K is an initiative of the US National Institutes of Health (NIH) aimed at turning “biomedical research into a digital enterprise.”

The Global Alliance for Genomics and Health (GA4GH) today announced a new Application Programming Interface (API) developed by the Global Alliance’s Data Working Group that will allow DNA data providers and consumers to better share information and work together on a global scale.

The Global Alliance for Genomics in Health (GA4GH) has appointed Ewan Birney PhD, Director of the European Bioinformatics Institute (EMBL-EBI) and nonexecutive Director of Genomics England, to lead the consortium’s efforts to accelerate medical and research advancements through the responsible sharing of genomic and clinical data. Birney will assume the new role on 1 November.

We at the Global Alliance for Genomics and Health are serious about our mission of transforming medicine and improving human health through data sharing. Since our founding in 2013, GA4GH has expanded the global conversation about genomics and health in many ways. We convene stakeholders with expertise in genomics, security, regulations and ethics, informatics, computing, and clinical genetics.

In today’s Science, the Global Alliance for Genomics and Health (GA4GH) calls for a federated data ecosystem for sharing genomic and clinical data. The diverse authorship, which includes international leaders in academia, research, medicine, and industry, argues that a common framework of principles, protocols, and interoperable technical systems are necessary to enable responsible and effective data sharing.

The Global Alliance for Genomics and Health (GA4GH) and the Wellcome Genome Campus have launched a new project to explore global public attitudes and beliefs around the sharing of genetic information.

A recent paper from the Global Alliance for Genomics and Health (GA4GH) highlights the potential of “big data” to unlock the secrets inside cancer cells and enable the development of more effective personalised treatments.

The BRCA Challenge, a Demonstration Project of the Global Alliance for Genomics and Health(GA4GH), will release the newest version of the BRCA Exchange web portal on April 3, 2016 in advance of the annual meeting of the International Congress of Human Genetics (ICHG) in Kyoto, Japan.

The BRCA Challenge, a Demonstration Project of the Global Alliance for Genomics and Health(GA4GH), will release the newest version of the BRCA Exchange web portal on April 3, 2016 in advance of the annual meeting of the International Congress of Human Genetics (ICHG) in Kyoto, Japan.

On April 3, 2016, GA4GH hosted a global engagement workshop to coincide with the Annual Meeting of the International Congress of Human Genetics (ICHG). Additionally, a joint session with the International Rare Diseases Research Consortium (IRDiRC) was held during the main body of the conference on April 6.

Genomic research holds great potential to advance human health and medicine. However, for the millions of data points now being collected through large-scale sequencing efforts to be truly valuable, they must be analyzed in aggregate and shared across institutions and jurisdictions.

The Global Alliance for Genomics and Health (GA4GH), an international coalition dedicated to improving human health by maximizing the potential of genomic medicine, marked its second anniversary this month.

The Global Alliance for Genomics and Health convened its second major meeting of 2014 today, bringing together more than 250 international leaders to collaborate on the development of innovative solutions to accelerate sharing of genomic and clinical data. At their plenary meeting, held in San Diego, California, Alliance members shared progress to date and discussed next steps for the effort.

The work of the Global Alliance for Genomics and Health (GA4GH) was recognized at the 3rd Annual Tribute to Champions of Hope Gala of Global Genes™, an event honoring those who are leading the fight against rare disease.

Genome Canada and the Canadian Institutes of Health Research (CIHR) today announced a $3.3 million investment in Can­SHARE – a pan­Canadian program that will enable innovation in the use of genomic data for health care for patients in Canada and worldwide.

The Beacon Project is one of three data sharing demonstration projects of the Global Alliance for Genomics and Health (GA4GH). It is an effort to enable international sites to share genetic data to improve human health in the simplest of technical contexts. It is based on a yes/no query that tells searchers whether a specific genetic variant is contained in a participating database.

The Global Alliance for Genomics and Health (GA4GH), an alliance of over 150 of the world’s leading biomedical research institutions, healthcare providers, information technology and life science companies, funders of research, and disease and patient advocacy organizations, announced progress since the group’s formation and plans for future work at a partner meeting held today at the Wellcome Trust in London.