Global efforts to improve human genomic data access and reuse


Repositive is working alongside global organisations to provide the tools and best practices for data sharing in genomics research to help researchers help patients faster.

Good data management is not a goal in itself, but rather is the key conduit leading to knowledge discovery and innovation, and to subsequent data and knowledge integration and reuse by the community after the data publication process.1

Several virtual and real organisations work on different aspects on how to improve data sharing for research. In this context, we like to break down the concept of "data sharing" to refer to the components of "data management", "data access" and "data reuse".2 In general, it is now accepted that the best practice includes data being Findable, Accessible, Interoperable3 and Reusable - also known as FAIR.1

Organisations working to harmonise scientific data practices



In connection with, and inspired by FAIR guidelines and best practices for research data management, there are a number of organisations that work to harmonise scientific data practices. There is, for example, FAIRsharing.org (known previously as biosharing.org) which defines itself as “a curated, informative and educational resource on data and metadata standards, across all disciplines, inter-related to databases and data policies.” They are the authors of the open source ISA framework tools that help managing an increasingly diverse set of life science, environmental and biomedical experiments employing one or a combination of technologies. This framework seems to be especially useful when publishing data separately (prior to the main scientific publication).

There is also Research Data Alliance (RDA) which is another worldwide community-driven organisation created with the goal of building the social and technical infrastructure to enable open sharing of data. They intend to cover a broad spectrum of disciplines.

Another organisation, the NIH BD2K supported bioCADDIE, with a steering committee from both US and UK academic institutions, has a focus on biological data and is working to develop a data discovery index (DDI) which will index (biological) data that are stored elsewhere.

All the organisations mentioned have a rather broad scope of data that they are working on. However, genomic data is a very special type of data5 and requires a special approach.

In March 2013, the charity DNAdigest was founded by Fiona Nielsen in Cambridge and in August 2014 Repositive was spun out as a social enterprise to build tools to facilitate access to and reuse of human genomic data.


Global Alliance for Genomics and Health (GA4GH)



In order to accelerate the potential of genomic medicine to advance human health, an international, non-profit alliance - the Global Alliance for Genomics and Health (GA4GH) - was founded in January 20134 by 50 colleagues from eight countries who met to discuss the current challenges and opportunities in genomic research and medicine. They discussed how their groups could work together to accelerate medical progress, building on the experience and best practices of genetics programmes around the world.

Bringing together over 450 leading organisations working in healthcare, research, disease and patient advocacy, life science, and information technology, GA4GH is working to create a common framework of tools, methods, and harmonised approaches and supporting demonstration projects to enable the responsible, voluntary, and secure sharing of genomic and clinical data.6

GA4GH is a virtual organisation, which means that its members have their daily jobs and contribute to the work of GA4GH on a voluntary basis. They get together several times a year with the annual plenary meeting being the main gathering for leaders, active volunteers and the general public.

The organisation is governed by the steering committee and currently consists of four working groups - Clinical, Data, Regulatory & Ethics, Data Security - but is undergoing restructuring around clinical driver projects, the roadmap of which will be presented at the upcoming GA4GH 5th Plenary Meeting in Orlando, Florida, USA.

The key outcomes of the GA4GH work to date can be found here.


Repositive's work for GA4GH



Repositive as well as our sister organisation DNAdigest have been actively contributing to GA4GH for several years now. At the end of 2015, as part of the Participant Values task team of the Regulatory and Ethics working group, Repositive participated in creating “Your DNA - Your Say” - a project lead by Dr Anna Middleton from the Wellcome Trust Sanger Institute that aims to survey global public attitudes to sharing individual genomic data. As part of this global initiative, in 2016-2017, Repositive created the Russian translation of the survey and thus made it available to the Russian-speaking population. The Your DNA - Your Say survey is currently available in five languages and more translations are on the way.

Our research interests and contributions are all about creating more #dataeureka moments for researchers by:

  • making the process of ethical data access easier to navigate
  • making data easier findable even across institutions and geographical boundaries
  • enable the research community to contribute to best practices for FAIR data1 and well-formed metadata
  • enabling efficient mechanisms for data governance while preserving privacy of personal data and protect potential IP for data providers

Do these topics excite you? We are always looking for motivated individuals for joining our team.

Join us in Orlando

If you are interested in learning more about the work of Repositive and GA4GH we invite you to join us in attending the 5th GA4GH Plenary meeting in Orlando this autumn co-located with GenoPri 2017 and the annual ASHG meeting. By contributing to the work of international alliances and developing best practices you can directly influence how the next generation of researchers will enable efficient and ethical genomic data sharing for research.

Let us know what you think are the biggest barriers to data access and reuse in genomics research by posting your comments below.

References


  1. The FAIR Guiding Principles for scientific data management and stewardship. doi:10.1038/sdata.2016.18 Read the article

  2. Why we should stop talking about data sharing Post by Barbara Prainsack

  3. Interoperability Standards - Digital Objects in Their Own Right Report on Data Standards from October 2016, Wellcome Trust

  4. At approximately the same time, in March 2013, DNAdigest was founded by Fiona Nielsen in Cambridge to educate the public about problems around genomic data sharing and their impact on health research. In August 2014, Repositive was spun out of DNAdigest to build tools to facilitate access to and reuse of human genomic data.

  5. About specific implications of genomic research Special Considerations for Genome Research and Ethical, Legal and Social Implications (ELSI) of Genetic Knowledge

  6. About Global Alliance for Genomics and Health


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