HVP Country Nodes are data repositories that collect variation data directly from diagnostic laboratories within a single country or region and store this information in a central location accessible to the diagnostic and healthcare professionals of the country hosting each node. HVP Country Nodes are built, funded and managed by the countries they service.
The Nodes serve three functions: they allow data to be shared amongst the diagnostic labs and clinics in any one country to support genetic testing and interpretation services for patients; data from the Nodes may also be shared with gene/disease specific databases and central variation repositories (e.g. NCBI’s dbGaP) in a manner that complies with each country’s existing privacy legislation. Finally, these repositories allow the genetic burden of disease in individual countries to be quantified, which in turn can be used to better target healthcare planning and policy development.
An HVP Country Node is defined as having three components:
- A repository, or linked network of databases, that collects and stores information on variation in the human genome that has been generated within each country and that enables 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.
The three components above enable HVP Country Nodes to carry out specific roles both within their country and internationally:
- 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