Data & Information Management

This policy theme relates to issues such as data access, analysis, sharing, release and re-use. In this area there is often an overlap with Ethical, Legal and Social Implications (ELSI). While the ELSI theme focusses on the ethical concerns and legal approaches to issues such as privacy and consent as they relate to the handling of genomic data, the data and information management theme is focussed on the practical approaches and tools needed to work with genomic data.

A key international alliance working in the area of data and information management is the Global Alliance for Genomics and Health (GA4GH). This is a policy-framing and technical standards-setting organisation, seeking to enable responsible genomic data sharing within a human rights framework. It is a non-profit alliance that brings together 500+ leading organizations working in healthcare, research, patient advocacy, life science, and information technology. 

All of the alliance’s work builds upon the Framework for Responsible Sharing of Genomic and Health-Related Data which provides guidance for the responsible sharing of human genomic and health-related data. The Framework is guided by the human rights of privacy, non-discrimination and procedural fairness. At the same time, it considers all human rights principles relevant, complementary and interrelated, founded as they are on respect for human dignity. The Framework highlights, and is guided by, Article 27 of the 1948 Universal Declaration of Human Rights which guarantees the rights of every individual in the world "to share in scientific advancement and its benefits" (including to freely engage in responsible scientific inquiry), and at the same time "to the protection of the moral and material interests resulting from any scientific...production of which [a person] is the author."

GA4GH has a Foundational Work Stream around data security which creates technology standards and best practice for protecting data and services including the development, customization and adoption of standards for identity management, data security, privacy protection, and service assurance. There are also Technical Work Streams which are teams that develop technical standards in areas such as: Clinical & Phenotypic Data Capture,  Cloud,  Data Use & Researcher Identities,  data discovery,  genomics knowledge standards and  large scale genomics.

In August 2018, 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 included an overview of the regulatory frameworks that have come to bear in seven different countries (Canada, Australia, United States, China, Germany, South Korea, and the United Kingdom) as well as a discussion of current international data norms.

ELIXIR is another important organisation in this area which has a focus in the research context. ELIXIR is an intergovernmental organisation that brings together life science resources from across Europe. ELIXIR was founded in 2014 and includes 21 member countries and over 180 research organisations.

The goal of ELIXIR is to coordinate resources including databases, software tools, training materials, cloud storage and supercomputers so that they form a single infrastructure. This infrastructure makes it easier for scientists to find and share data, exchange expertise, and agree on best practices. ELIXIR's activities are divided into five areas called 'Platforms' - these are Data, Tools, Interoperability, Compute and Training. The Platforms are managed by Platform leaders and the work is carried out by groups within the Platforms.

The ELIXIR Human Data Use Case aims to provide a framework for the secure submission, archiving, dissemination and analysis of human biomedical data across Europe.  It takes the European Genome-Phenome Archive (EGA) as its primary data source, which allows an authorised user to search sequenced material, patient samples stored in biobanks, and the metadata around patients (their illnesses, treatments, outcomes). It also queries national search engines on behalf of the users. Datasets can then be downloaded into an EGA compatible cloud or cluster local to the researcher. The Human Data Use Case also ensures that human data in ELIXIR services is handled in accordance with the appropriate legal framework in Europe, the General Data Protection Regulation (GDPR).

Part of ELIXIR is FAIRsharing which is a curated, informative and educational resource on data and metadata standards, inter-related to databases and data policies.

In April 2018, on  Digital Day 2018, thirteen European Health Ministers signed a declaration of support to link existing or future genomic databanks across the EU, through the Million European Genomes Alliance (MEGA). The Declaration of Cooperation states that a voluntary coordination mechanism will be developed with the goal of making a cohort of one million sequenced genomes accessible in the EU by 2022. The declaration was initially signed by representatives of the European Commission and the Czech Republic, Cyprus, Estonia, Finland, Italy, Lithuania, Luxembourg, Malta, Portugal, Slovenia, Spain, Sweden and the UK. Since then a further eight countries have signed the declaration - Austria, Bulgaria, Croatia, Greece, Hungary, Latvia, the Netherlands and Norway bringing the total to 21 countries with additional countries observing including France and Germany.


Within the Catalogue of Global Genomic Medicine Implementation Initiatives, almost two thirds of all initiatives (39/61)* gave some acknowledgement to data and information management themes primarily in the policy frameworks and demonstration projects. The following are summaries of the topics.


General Resources:

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, et al. Leveraging European infrastructures to access 1 million human genomes by 2022. Nature Reviews Genetics. 2019.

Cuggia M, Combes S. The French Health Data Hub and the German Medical Informatics Initiatives: Two National Projects to Promote Data Sharing in Healthcare. Yearb Med Inform. 2019;28(1):195-202.

Kalkman S, Mostert M, Gerlinger C, van Delden JJM, van Thiel GJMW. Responsible data sharing in international health research: a systematic review of principles and norms. BMC Medical Ethics. 2019;20(1):21.

European Commission. 2018 Declaration Genome. EU countries will cooperate in linking genomic databases across borders

He KY, Ge D, He MM. Big Data Analytics for Genomic Medicine. Int J Mol Sci. 2017;18(2):412.

M. Shabani, P. Borry, Rules for processing genetic data for research purposes in view of the new EU General Data Protection Regulation. European Journal of Human Genetics 26, 149-156 (2018).

D. Townend, EU Laws on Privacy in Genomic Databases and Biobanking. J Law Med Ethics 44, 128-142 (2016).

Beachy S, Olson S, Berger AR (Rapporteurs). Genomics-Enabled Learning Health Care Systems: Gathering and Using Genomic Information to Improve Patient Care and Research: Workshop Summary. Roundtable on Translating Genomic-Based Research for Health; 2015. Washington (DC): National Academies Press (US);2015.

* Initiatives from the Catalogue that acknowledge Data & Information Management themes

Africa (2) - Human Heredity and Health in Africa (H3Africa) White Paper, Human Heredity and Health in Africa (H3Africa) Initiative

Australia (8) - National Health Genomics Policy Framework, NSW Health Genomics Strategy, Genetic and genomic healthcare for Victoria 2021, Australian Genomics, Australian Genomics Health Futures Mission, Melbourne Genomics, Queensland Genomics, South Australia Genomics Health Alliance

Brazil (1) - Brazilian Initiative on Precision Medicine (BIPMed)

Canada (4) - Genome BC - Strategy for Genomics in the Health Sector in British Columbia, CanDIG-Canadian Distributed Infrastructure for Genomics, Genome Canada, Genome Canada National Initiative for the Clinical Implementation of Precision Health

Denmark (2) - GenomeDenmark platform, National Strategy for Personalised Medicine 2017-2020

Europe (2) - Shaping Europe’s Vision for Personalised Medicine-Strategic Research and Innovation Agenda (SRIA), Ubiquitous Pharmacogenomics (U-PGx)

Finland (2) - Improving Health through the use of Genomic Data, FINNGEN

France (1) - French Plan for Genomic Medicine 2025 

Global (1) - The International Cancer Genome Consortium for Medicine (ICGCmed) Whitepaper

India (1) - National Biotechnology Development Strategy 

Italy (1) - National Plan for Public Health Genomics

Japan (1) - Implementation of Genomic Medicine Project (Unofficial Version)

Middle East (2) - Dubai Genomics, Qatar Genome Programme (QGP)

New Zealand (1) - Genomics Aotearoa

Singapore (1) - POLARIS (Personalized OMIC Lattice for Advanced Research and Improving Stratification) 

South Korea (1) - Genomic Medicine in Korea: Plan and Infrastructure-Genome Technology to Business Translation Program

Sweden (1) - Genomic Medicine Sweden

Switzerland (1) - Swiss Personalized Health Network (SPHN)

Thailand (1) - Genomics Thailand

United Kingdom (3) - Building on our inheritance - Genomic technology in healthcare - A report by the Human Genomics Strategy Group, The 100,000 Genomes Project Protocol, Generation Genome- Annual Report of the Chief Medical Officer 2016

USA (2) -The 2011 NHGRI strategic plan - Charting a course for genomic medicine from base pairs to bedside, All of Us-(Precision Medicine Initiative)