GA4GH Inc., the Canadian non-profit corporation associated with the Global Alliance for Genomics and Health, has announced the appointment of five new members to sit on the Board of Directors.

The GA4GH 10th Plenary gathered 250 attendees and consisted of 36 speakers and 23 panels and workshops, focusing on the challenges posed by the generation, management, and analysis of large amounts of genomic and clinical data.

In situations where data misuse is possible, such as in interactions between patients or publics and genomics researchers, trust is essential. In this guest blog post, the Public Attitudes for Genomic Policy subgroup from the GA4GH Regulatory and Ethics Work Stream delves into the importance of building trust for genomics research.

To aid researchers and clinicians in developing clear and digestible consent forms, the GA4GH Regulatory and Ethics Work Stream (REWS) has developed Consent Clauses for Large Scale Initiatives and Clinical Genomic Consent Clauses. These latest additions complete the REWS Consent Toolkit

Phenopackets adopted as an ISO Standard

On episode 18 of the GA4GH OmicsXchange podcast, we speak with Dr. Eric Green, Director of the National Human Genome Research Institute (NHGRI), on the Advances in Genome Biology and Technology (AGBT) Precision Health Meeting.

The latest GDPR Brief, written by Adrian Thorogood, considers the data protection implications of publishing metadata to enable discovery.

A policy from the GA4GH Data Access Committee Review Standards (DACReS) group aims to harmonise the processes of data access committees, prevent inconsistencies in the review process and ensure proper access to genomic data.

For the latest episode of the OmicsXchange, we were joined by Larry Babb and Alex Wagner to discuss the Genomic Knowledge Standards (GKS) Work Stream and the Variation Representation Specification (VRS).

Too many women are getting unnecessary mastectomies and other invasive procedures because of a knowledge gap in cancer gene mutations. A new study offers a path to closing the gap, thanks to the data-sharing innovation of federated analysis.

GA4GH welcomes Dr Geraldine Van der Auwera to its Standards Steering Committee (SSC), as co-lead of the Large Scale Genomics (LSG) Work Stream. 

This is Episode 16 of the OmicsXchange, where we will be discussing the Atlas Variant Effects Alliance with Clare Turnbull and Lea Starita, co-chairs of the Clinical Variant Interpretation Working Group.

Beacon v2 expansion includes functionality to improve the utility of the tool for clinical genomics research. 

This is Episode 15 of the OmicsXchange, where we will be discussing the first gapless human genome sequence with Karen Miga, co-chair of the Telomere-to-Telomere Consortium.

The latest GDPR Brief, written by Melissa Cline, addresses how a well-designed federated analysis mechanism can enable responsible data sharing that complies with the GDPR.

April’s Community Spotlight is…Reggan Thomas! Thomas is the GA4GH Work Stream manager of Cloud, LSG, and GKS! Read about his currents projects, his favourite scientific discovery and more!

Approved in 2021 by the GA4GH Standards Steering Committee (SSC), GA4GH BED v1.0 establishes a concrete set of guidelines for utilising the format.

This is Episode 14 of the OmicsXchange, where we will be discussing the genomic surveillance and outbreak response in Africa with Alan Christoffels.

Please join us in welcoming our four new work streams and FASP co-leads to the GA4GH community!

This GA4GH Community Post is the tenth in our series featuring individuals from across our organization. This month we are turning the spotlight on Michael Baudis!

GA4GH seeks feedback on meeting the needs of the international genomics community. Share your thoughts in a brief survey, or join a live town hall meeting with an executive team member.

The CEO of Genomics England and the CSO of GA4GH discussed the role of emerging technologies in unlocking the potential of genomic medicine during our second Fireside Chat.

GA4GH has submitted a response to the recent NIH Request for Information on Proposed Updates and Long-Term Considerations for the NIH Genomic Data Sharing Policy.

The latest GDPR Brief, written by Mikel Recuero Linares, addresses recent developments by the EDPB and implications for genomic and health data sharing.

The GA4GH Policy on Clinically Actionable Genomic Research Results aims to create a framework for responsibly informing study participants of the health risks embedded in their genomes.

This GA4GH Community Post is the ninth in our monthly series featuring individuals from across our organization. This month we are turning the spotlight on Kristina Kékesi-Lafrance!

To expand its utility, the Phenopackets development team has now released Phenopackets v2.0.

This is Episode 13 of the OmicsXchange where we will be discussing the Data Connect API produced by the GA4GH Discovery Work Stream.

The GA4GH Standards Steering Committee approved the Data Connect API, a standard to support federated search of disparate datasets.

This GA4GH Community Post is the eighth in our monthly series featuring individuals from across GA4GH. This month we are turning the spotlight on Soichi Ogishima!

Genomic science relies on the individuals who choose to donate their data. These can include participants of research studies and patients who may be directly impacted by research findings. As healthcare systems increasingly utilize genomics for patient care, it is important that the benefits of genomics are global, fair, and just; and the way that genomics activities engage participants, patients, the public, and other stakeholders are core to this aim.

This GDPR brief analyses the legal status of the personal data of deceased persons and the consequences of this analysis for the biomedical research field.

This GA4GH Community Post is the seventh in our monthly series featuring individuals from across GA4GH. This month we are turning the spotlight on Lindsay Smith!

The Global Alliance for Genomics and Health (GA4GH) takes center stage in the second issue of the new journal, Cell Genomics.

This GA4GH Community Post is the sixth in our monthly series featuring individuals from across GA4GH. This month we are turning the spotlight on Mélanie Courtot!

On November 16 & 17, 2021, the GHIF will be hosting their bi-annual working meeting. Initiatives from around the world will convene to discuss current data sharing opportunities and challenges, as well as updates in relation to GA4GH standard implementation.

GA4GH is excited to kick-off a new series of “fireside chats” between members of the genomics and health community. For this first installment, GA4GH CEO Peter Goodhand will speak with guest Dr. Catalina Lopez-Correa.

The GDPR represents the most progressive measure to protect individual privacy in twenty years, and is rapidly becoming a global baseline, considered by many as model legislation.

This GA4GH Community Spotlight is the fifth in a monthly series featuring individuals from across GA4GH. This month we are featuring Maili Raven-Adams who is a Policy Analyst at GA4GH.

Robert Freimuth and Alex Wagner, leaders within the GA4GH Genomic Knowledge Standards (GKS) Work Stream, have each received a Genomic Innovator Award from the National Human Genome Research Institute (NHGRI).

The GA4GH is soliciting nominations for co-leads of both the Data Security Work Stream (DSWS) and the Federated Analysis Systems Project (FASP).

The Global Alliance for Genomics and Health (GA4GH) will hold its 9th annual Plenary Meeting on September 28 and 29, 2021. Open, free, and virtual, 9th Plenary aims to bring together the global genomics and health community to address the complexities of sharing genomic and related health data across traditional bounds. This year, Dr. Harold Varmus and Dr. Alan Christoffels will join GA4GH 9th Plenary as keynote speakers.

This GA4GH Community Spotlight is the fourth in a monthly series featuring individuals from across GA4GH. This month we are featuring Professor Zornitza Stark who is a clinical geneticist working at Australian Genomics and the Victorian Clinical Genetics Services.

GA4GH has received funding from the Canadian Institutes of Health Research (CIHR) in order to advance data sharing tools in the fight against COVID-19.

This GA4GH Community Spotlight is the third in a monthly series featuring individuals from across GA4GH. This month, we are speaking with Alice Mann a member of our Secretariat of professional staff.

This Brief aims to clarify the roles of the European Data Protection Board (‘the Board’) and the Article 29 Working Party (WP29) in interpreting the GDPR, against the backdrop of their development as well as their most important tasks, powers, and competences.

GA4GH standards can play a role at every step throughout a learning health system. Join the GA4GH Secretariat as they walk through a potential data life cycle, from obtaining consent from a data donor, conducting research, and finally to the eventual insights that will benefit human health and medicine.

This GA4GH Community Spotlight is the second in a monthly series featuring individuals from across GA4GH. This month, we are speaking with Elizabeth Janes a GA4GH Co-op apart of our Secretariat of professional staff.

Interested in how to get involved with GA4GH? We are excited to announce we are launching a new GA4GH 101 Webinar series.

In this brief, we discuss the provisions that allow for balancing of individual and familial interests under the GDPR and EU Member State law, and the legal uncertainty that remains. 

This GA4GH Community Spotlight is the first in a new monthly series featuring individuals from across GA4GH. This month, we are speaking with GA4GH secretariat member Neerjah Skantharajah.

Multi-dataset, secondary processing of already gathered data is crucial for genomic and health research. However, data protection practice creates barriers to this work. Two parallel lines require solution: issues around “legal basis”, “processing” and “purpose”; the duty to inform the data subject. 

The GA4GH Genomic Knowledge Standards Work Stream will host an interactive webinar on Wednesday, June 2 at 19:00 UTC to support the community in using the GA4GH Variation Representation Specification, or VRS.

The GA4GH Data Use and Researcher Identities Work Stream will host an interactive workshop on Thursday May 6 at 12:00 UTC to support the genomics and health community in implementing the GA4GH Data Use Ontology (DUO).

For the seventh year in a row, the Global Alliance for Genomics and Health (GA4GH) is participating in Google Summer of Code (GSoC)—a global program that brings student developers into open source software development. 

Approved by the GA4GH Standards Steering Committee earlier this year, Familial Consent Clauses provide researchers with a typology of relevant sample clauses found in research studies and regulations around the world to guide the drafting of consent forms.

The GA4GH Clinical and Phenotypic Data Capture Work Stream will host a connectathon on April 1, 19:00 UTC to focus on interoperability of its Pedigree specification with the GA4GH Phenopackets v1.1 standard and HL7 FHIR.

Recently approved by the GA4GH Standards Steering Committee, the Task Execution Service (TES) API v1 provides a standard mechanism for orchestrating these complex analyses across different compute environments.

GA4GH names Dr. Susan Fairley as the organization’s first ever Chief Standards Officer (CSO).

This brief will discuss, with specific reference to genomic and health-related research, the three ways in which the public interest features in the GDPR: a legal basis, a derogation for the processing of genomic and health data, and a transfer mechanism.

For nearly two decades, the EU Standard Contractual Clauses have been a key legal mechanism for transferring personal data out of the EEA (and now, the UK).  Despite this, the SCCs’ requirements for onward transfers have received little attention.

In episode 12, we spoke with Professor Nicola Mulder from the University of Capetown on a large-scale, collaborative effort spearheaded by H3Africa to sequence genomes from regions and countries in Africa that have historically been missed or overlooked.

The Global Alliance for Genomics and Health has announced the launch of GA4GH Inc., a not-for-profit organization incorporated under the federal laws of Canada.

The central concepts of “identifiability” and of “personal data” are broadly defined in the GDPR, which can create challenges for actors in the health sector hoping to determine what data is regulated by the GDPR and what data is not.

The Human Heredity and Health in Africa (H3Africa) Consortium, a GA4GH Driver Project, conducted whole genome sequencing of 426 individuals from 13 African countries, whose ancestries represented 50 ethnolinguistic groups from across the continent. Their findings have been published in the journal Nature.

In this episode, we spoke with Max Barkley, software developer and team lead at DNAStack, on the GA4GH Connection Demos. This initiative aims to demonstrate interoperability through real-world implementations of GA4GH standards across multiple institutions.

Members of the GA4GH Work Streams have submitted the Task Execution Service (TES) API and the Search API for approval, commencing with a 30-day public comment period.

The concept of a data ‘controller’ is central to the operation of the GDPR because it allocates responsibility for compliance with data protection rules. In the genomics context, determining who is a joint data controller can be complicated.

GA4GH has announced the release of its 2020-2021 Strategic Roadmap as well as the 2020 GA4GH Connection Demos.

The Steering Committee of the Global Alliance for Genomics and Health (GA4GH) has approved three new products that support the genomic and health data collection process. Together, these three deliverables—ERR Policy, MRCG, and CCGR—facilitate genomic and health research that protects the interests of both participants and researchers.

Today on the podcast we hear from Meg Doerr, a Principal Scientist in Data Governance and Ethics at Sage Bionetworks. Meg is the Programme Committee Chair for the upcoming GA4GH 8th Plenary meeting, which will take place on September 29 and 30. It will be the first fully virtual meeting and we are delighted to have had Meg’s guidance in developing the programme.

The largest ever survey on global public attitudes towards genomic research and data sharing suggests that work is needed to raise levels of public trust in how genetic data is used in order for that data to fulfill its promise to advance human health and medicine. 

The Global Alliance for Genomics and Health (GA4GH) will hold its 8th annual Plenary Meeting as an open, free, and virtual in order to encourage participation from the most diverse, globally representative community possible.

The European Court of Justice’s Schrems II judgment on 16 July 2020 has both invalidated the EU Commission’s adequacy decision on the EU-US Privacy Shield and strengthened obligations on anyone transferring data out of the European Economic Area. This brief focuses on the latter issue.

On Episode 9 of the OmicsXchange Podcast, we speak with Laura Paglione—co-lead of the GA4GH Equity, Diversity, and Inclusion (EDI) Advisory Group—on amplifying underrepresented voices within the Genomics and Health Data Community.

GEnome Medical alliance Japan (GEM Japan), a Driver Project of the Global Alliance for Genomics and Health (GA4GH), has released  GEM Japan Whole Genome Aggregation (GEM-J WGA) — a first-of-its-kind open-access variant frequency panel of 7,609 Japanese whole genome sequences.

Under the GDPR, personal data may only be kept if strictly necessary to fulfil the purpose of processing. The special provisions of the GDPR on data retention for research are, however, not a carte blanche to hang on to all research data.

On episode 8 of the OmicsXchange, we are speaking with Caroline Cake, CEO of Health Data Research UK, about the HDR UK response to the ongoing COVID-19 pandemic and their role in setting up the International COVID-19 Data Research Alliance.

The GDPR may apply to processing activities happening outside of Europe, commonly referred to as the GDPR’s “extraterritorial effect”. Reflecting the latest guidance on the subject from the European Data Protection Board (EDPB), this brief should be considered an update to an earlier brief on the GDPR’s territorial scope.

The Global Alliance for Genomics and Health (GA4GH) is one of 19 founding members of the International COVID-19 Data Research Alliance and data analysis Workbench, an independent consortium of leading life science, philanthropic, and research organisations launched to support the rapid development of insights and treatments to combat the global effects of COVID-19. 

In this episode, we speak with Kathi Lauer—a virologist and Industry Officer for External Relations at the ELIXIR Hub in the UK—on ELIXIR’s efforts to respond to the pandemic.

On Wednesday, June 24, the GA4GH Data Use and Researcher Identity (DURI) Work Stream hosted the webinar “GA4GH Passports: Implementing GA4GH Passports and AAI: Technical Deep Dive.”

On Wednesday, June 17, the GA4GH Data Use and Researcher Identity (DURI) Work Stream hosted the webinar “GA4GH Passports: Benefits of Integrating a Global Electronic ID for Accessing Biomedical Data.” 

We continue our series on the role of data sharing during the COVID-19 pandemic. This episode, we hear from Johan Ordish, active member of the GA4GH Regulatory and Ethics Work Stream, on COVID-19 data sharing from a regulatory and ethics perspective.

The EU’s Clinical Trials Regulation (CTR) and the GDPR both apply to clinical trials and (further) scientific research. This GDPR Brief details the interplay between the two regulations.

The GA4GH Data Use and Researcher Identities (DURI) Work Stream will host two webinars in June to demonstrate how data access systems can leverage the GA4GH Passports standard to bring efficiency and harmonization to the data access process.

The Finnish Act on the Secondary Use of Social and Health Data (552/2019) applies to data collected in social and healthcare organizations and governs processing for secondary purposes, including statistics, scientific research, and other activities. This brief describes the Act especially as it applies to scientific research.

The urgency of scientific data sharing is never more apparent than during a global disease outbreak. Today we hear from Mark Fiume, CEO of DNAstack and co-lead of the GA4GH Discovery Work Stream about the COVID-19 Beacon, an initiative aimed at making viral genomic datasets discoverable for investigators around the world.

The individual or entity that determines the purposes and means of processing personal data are ‘Controllers’ under the GDPR. However, in the author’s personal experience, a claim is sometimes made, in relation to Universities and Research Institutions (herein “University”), that there is only one Data Controller, and that is the [President, University Board, etc.]. This is an understandable position insofar as it applies to, for example, the maintenance of student records. Where scientific research is at issue, however, the principal investigator (PI) often “determines the purposes and means of such processing”, and thus would seem to be a Data Controller.

Efficient international collaboration and data sharing, two key components in the advancement of genomic medicine and human health, are proving essential for effectively responding to the global COVID-19 pandemic. 

Large-scale sequencing initiatives around the globe are generating massive volumes of clinical genomic data that have the potential to inform research into human health and disease. But controlling access to these data is currently a cumbersome endeavor. For this episode, we’re speaking with Melanie Courtot and Craig Voisin of the GA4GH DURI Work Stream about the challenges presented by data access control and the solutions they’re developing within their teams.

Scientists create a new online searchable resource to accelerate precision medicine for cancer patients

The GDPR requires entities using personal data for their own ends and performing specified services for third parties using personal data to keep records of their processing activities. The records must be in written or electronic form and be made available to supervisory authorities on request. Beyond minimum requirements of the GDPR, supervisory authorities propose further technological and organizational practices to ensure the accuracy and utility of records.

SCCs can make data transfers to any country possible, including to recipients not covered by the EC adequacy decision for their country (e.g. US recipients not registered in the Privacy Shield). Nevertheless, the Court of Justice of the EU has yet to decide whether SCCs alone establish an adequate level of protection for personal data or if the recipient country’s legal system also requires analysis.

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.