1. ABOUT THE HUMAN VARIOME PROJECT
The Human Variome Project is an international non-governmental organisation working to build capacity in the practice of responsible genomics. To ensure that this contributes to improving global health outcomes, The Human Variome Project focusses on increasing both the quality and quantity of genomic knowledge that is collected, curated, interpreted and shared for clinical practice.
The Human Variome Project uses two main mechanisms to achieve growth in the responsible, free and open online publishing of the international consensus on genomic variant pathogenicity One is to support countries to develop their own capacity to generate and contribute their own variant information. The other is to support international groups formed around specific genes or diseases to do the same.
2. HVP COUNTRY NODES: A Definition
Recognising that data collection and sharing is almost always subject to laws, regulations and best practice guidelines operating at national and sub-national levels, the Human Variome Project Global Collection Architecture proposes that much of the routine data collection will be done through HVP Country Nodes. Country Nodes are a vital component for achieving improved health outcomes for people both within the country and around the world.
An HVP Country Node is defined as having three components:
- A repository, or linked network of databases, that collect and store information on variation in the human genome that has been generated within each country to enable the sharing of that information both nationally and internationally;
- A governance structure that ensures that the work of the Node is both sustainable in the long term and is consistent with all relevant national and international ethical, legal and social requirements; and
- A set of policies and procedures that ensures that the repository is operated and maintained in a responsible and accountable manner that is consistent with both national and HVP standards.
3. HVP COUNTRY NODES: What Do They Do?
The three components above enable HVP Country Nodes to carry out specific roles both within their country and internationally. These include:
- Taking an active role in ensuring that data on variation is easily shared among research institutes, projects, diagnostic laboratories and clinics;
- Contributing to building the capacity for storing and sharing data responsibly within the field of medical genetics and genomics;
- Monitoring and reporting on activities that will contribute to better targeting of healthcare planning and policy development; and
- Sharing data between other HVP Country Nodes and international Gene/Disease Specific Databases in the Human Variome Project Consortium.
Exactly how each HVP Country Node fulfils these roles is determined by each country and will be based on their unique mix of needs and capabilities. All HVP Country Nodes should progressively increase their activities by seeking to expand and improve the quality of their data collection activities within the country and their networks with other researchers, clinicians, diagnosticians, counsellors, patient groups, and relevant government officials both at the national level and in other countries. Ultimately, the data that is collected, stored and shared should be of a quality appropriate for use in clinical settings.
Because HVP Country Node repositories contain information on patients and subjects, every care must be taken to ensure that the data is collected and stored in a responsible manner. Countries vary in their cultural, religious and ethnic backgrounds; they also have different legislative and regulatory environments. HVP Country Nodes must conduct all their activities openly and transparently, and within all the relevant national requirements.
HVP Country Nodes must have an appropriate form of governance and decision making capacity to develop the policies and procedures for sustainable activities. Policies determining how data is collected, stored and shared must be developed and implemented. These practices should be reviewed and updated on a regular basis. The quality of the data that is collected, stored and shared must be transparently assessed and reported.
HVP Country Nodes do not operate in isolation. As part of an international consortium, they are active in Human Variome Project activities, participating in the development of HVP Standards and Guidelines and sharing their knowledge and experience with other HVP Country Nodes. Continuing membership of the Human Variome Project Consortium and recognition as an HVP Country Node is at all times subject to the Human Variome Project Code of Conduct.
4. BECOMING AN HVP COUNTRY NODE
Types of HVP Country Nodes
Interim status is offered to those who are able to meet the following two conditions:
- Agree to work towards meeting the requirements of the core definition above in sections 2 and 3 by signing a letter to that effect—a sample letter can be found in Attachment A; and
- Are able to provide satisfactory evidence that they in fact represent their country. In most cases suitable evidence would be a letter with appropriate letterhead indicating the level of recognition/endorsement from one or more of the following: the national Human Genetics society; an officer of the national Ministry of Health, or Science and Technology or similar; the national college of pathologists or similar professional society. The letter may be addressed either to the individual or group making the application or to the Human Variome Project ICO. A suggested draft letter can be found in Attachment B.
Interim status is only available for one organisation in each country.
Interim members can progress to full status after undergoing an accreditation process that assesses the level of compliance of the interim Node with published HVP Standards and Guidelines and in accordance with their agreement to move towards meeting the full status requirements defined above in sections 2 and 3.
Observer status is offered to national organisations and individuals who intend to establish an HVP Country Node but do not yet meet the requirements of interim status, or who feel that they are not yet ready to make an application. Observer Status can be offered to a maximum of four organisations or individuals per country. To apply for Observer Status, an application needs to be made using the form found in Attachment C.
Institute of Genetic Medicine, Newcastle University
International Centre for Life, Times Square
Newcastle upon Tyne
NE1 3BZ, UK
5. Membership of the International Confederation of Countries Advisory Council (ICCAC)
Both interim and full HVP Country Nodes are entitled to appoint a representative to the International Confederation of Countries Advisory Council (ICCAC). These representatives are the formal point of contact between the Human Variome Project ICO and the HVP Country Node. Individuals and organizations with Observer Status may participate in the ICCAC, but may not vote on matters raised in ICCAC meetings.
As a formal representative body of the Human Variome Project Consortium, the ICCAC plays an important role in the operation of the Project. Specifically, the role of the ICCAC is to:
- Promote and develop the work of HVP Country Nodes; both their own and others within the network through active participation in meetings and relevant official Working Groups; by representing HVP at various national and international fora
- Contribute to the development of HVP official documentation including Activity Proposals, Standards Development Human Variome Project Solution Blueprint and HVP Roadmap;
- Provide information on their Node's activities for HVP reports and publications;
- Take an active role in the expansion of the network of HVP Country Nodes around the world by providing guidance for other Consortium Members in initiating, developing, financing and operating their Nodes and by contributing to creating regional networks and developing/developed country partnerships for knowledge sharing and capacity building;
- Provide guidance and advice to the International Scientific Advisory Committee and Human Variome Project Board on matters concerning national and regional collection and sharing of genetic variation information.