The necessity of free and open access to information on human genetic variation for the development of medical science worldwide has been recognized by UNESCO since the late 1980s. To address this, UNESCO has been working with the Human Variome Project to build capacity in responsible genetic variation data sharing in Member States. Both organisations recognise that there is a pressing need to:
- Accelerate the progress of national efforts to systematically collect, curate, interpret and share quality genetic variation information; and
- Ensure that this is done in a manner that harmonizes outcomes in all parts of the world.
The ideal means of achieving this would be to establish internationally recognized technical standards and ethical norms that ensure the harmonization of the methods used to collect and share human variation information and its effects on human health. However, in practice, much of the activity in this space is regulated at the regional, national and sub-national levels, through normative documents published in isolation by national government ministries and departments and agencies acting on the advice of domain experts working through professional societies and colleges. Therefore, standardisation will only be achieved by increasing communication about and collaboration on the content and scope of these normative documents between national bodies.
UNESCO has a mandate among UN Agencies to assist Member States with research and scientific development efforts. Thus, UNESCO is uniquely placed to convene a sufficient number of competent entities and individuals to provide guidance to Member States on this issue. As its Statutes affirm (Article 1 - Purposes and functions), UNESCO exists to “maintain, increase and diffuse knowledge,” in order to “contribute to peace and security by promoting collaboration among the nations through education, science and culture.”
Both UNESCO and the Human Variome Project believe that fostering collaboration between national governments on the best ways to collect, curate, interpret and share genetic variation information will result in more high quality data being shared and subsequently lead to enhanced scientific outputs and better outcomes for all Member States.
Together, UNESCO and the Human Variome Project will convene two expert panels to produce guidelines for Member States. One expert panel (“Standards Panel”) will focus on the technical and organisational aspects of genomic variation data collection, curation, interpretation and sharing; the other (“Ethics Panel”) will focus on ethical and social aspects.
This project aims to compile an overall statement on the current state of technical best practice and ethical considerations for the collection, curation, interpretation and sharing of human genomic variation information in the different UNESCO member states. This statement will consist of:
- a set of broad global principles that can be used and adopted by UNESCO member states as they formulate national level policies related to the collection, curation, interpretation and sharing of genomic variation data; and
- guidance for Member States on existing standards and best practices that might be used as models for new policies.
In the course of this project, the Standards and Ethics Panels will each, for their area of competence:
- Develop a set of broad principles for how genetic and genomic data resulting from scientific research and clinical practice should be collected, shared and used.
- Produce a list of existing normative documents published by nationally based professional colleges and societies, national governments, national standards institutes, or regional or international organisations that are applicable to:
- The collection, curation, interpretation and sharing of genetic and genomic variation data; and
- The movement of genetic and genomic variation data across national borders.
- Analyse the existing normative documents to assess their adherence to the broad principles and identify gaps where additional normative work is required.
- Prepare guidelines for consideration by Member States that provides information on:
- What standards currently exist in each country;
- Where standards are missing or incomplete;
- Where consensus exists and to what extent;
- Suitable models for developing new standards; and
- What bodies should be charged with developing new standards.
Successful completion of the project will produce a resource for UNESCO Member States to draw on when developing and operating national genetic and genomic data sharing infrastructure in regards to technical and ethical norms. It is believed that this will lower the barrier to entry for creating new data sharing infrastructure and as such will engender growth in the quantity of genetic variation data being shared across national borders.
The project is concerned with the treatment of information about genomic variations and its relevance to ongoing biomedical research and clinical management of patients. The treatment of biological samples is out of scope for this project.
The project considers both germline and somatic variation to be in scope.
The project will create a document for Member States that catalogues and provides commentary on existing normative documents that cover the collection, curation, interpretation and sharing of genomic variation information. In situations where two or more existing normative documents are in conflict, the project will note the conflict, and in some instances provide commentary on the conflict, but resolution of the conflict will not be considered to be within the scope of the current project.
The project will use information that is already available, i.e normative documents that have already been adopted and are being adhered to. The project will not seek to create guidelines in areas where existing normative documents are not available.
The project will only consider normative documents that have already been published through a recognised mechanism at the international, regional, national or sub-national level.
The specialist work of the project will be undertaken by two Expert Panels, made up of domain experts identified by UNESCO with the assistance of its NGO partner, the Human Variome Project. The panel will be led by a chair elected from amongst its members.
Multi-disciplinary, pluralistic groups will be used as agreement between members in such instances is more likely to be valid and have more credence with the governments of Member States. This is reflected in the list of members invited to participate.
The Expert Panels will be supported by the staff of the Human Variome Project International Coordinating Office and personnel from the Division of Science Policy and Capacity-Building, UNESCO. These resources will be utilised to perform much of the underlying research necessary for the Expert Panels to carry out their responsibilities.
Information on the existence and content of normative documents will be gathered through a mix of methods to ensure sufficient coverage. These will include, but not be limited to:
- Using the existing knowledge of the members of the Experts Panels;
- Contacting the permanent delegations of UNESCO Member States; and
- Surveying the Human Variome Project’s global network of Individual, Institutional and Data Provider members.
- The project acknowledges that more data will be gathered from countries in the Global North, but this knowledge will be shared with African and Asian colleagues to collect their thoughts and reflections; these will be subsequently included in the analyses performed during the project.
The management work of the project will be undertaken by a Project Coordinator from the Human Variome Project International Coordinating Office. Secretariat support will be provided by UNESCO.
Composition of Expert Panels
Prof. Stephano Semplici (Chair) - Italian Republic
Mr. Cletus T. Andoh - Republic of Cameroon
Dr Carol Isaacson Barash - United States of America
Prof. Ewa Bartnik - Republic of Poland
Prof. Ruth Chadwick - The United Kingdom of Great Britain and Northern Ireland
Prof. Vuorio Eero - Republic of Finland
Dr Rosemary Ekong - United Kingdom of Great Britain and Northern Ireland
Dr Ademola Kazeem Fayemi - Federal Republic of Nigeria
Prof. Sheila Jasanoff - United States of America
Mr Richard Magnus - Republic of Singapore
Prof. Jonathan Moreno - United States of America
Prof. Martin Richards - United Kingdom of Great Britain and Northern Ireland
Prof. Yann Joly (Chair) - Canada
Mr Chris Arnold - Australia
Prof. Garry Cutting - United States of America
Prof. Johan den Dunnen - The Netherlands
Dr Chiyan Lau - Australia
Prof. Laura Bannach Jardim - Brazil
Prof. Augusto Rojas Martínez - Mexico
Prof. Ming Qi - China
Prof. Raj Ramesar - South Africa
Prof. Peter Robinson - Germany
Dr Vahan Simonyan - United States of America
Dr Zivana Tezak - United States of America
Prof. Mauno Vihinen - Sweden
Dr Michael Watson - United States of America
Dr Marie-Charlotte Bouësseau (WHO; observer) - Switzerland