What is an HVP Country Node?
Essentially, an HVP Country Node has 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 the 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 Human Variome Project standards.
Why do we have HVP Country Nodes?
Unique variants are uncovered every day in diagnostic laboratories, clinical centres, and research institutions in countries around the world. HVP Country Nodes are a vital component in the systematic identification of sources of high quality genetic variation data because of their local knowledge of three things:
- Who in their country is, or will be generating human genetic and genomic information
- Who is interested in curating this information, and
- Who has an interest in using this information for clinical purposes.
What do HVP Country Nodes do?
The three components of the definition 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.
What is the role of an HVP Country Node?
The role of HVP Country Nodes can be thought of as comprising seven key components:
- Service for diagnostic laboratories
- Service for clinicians/genetic counsellors
- Service for medical researchers
- Source of statistics for planning health service delivery
- Source of data for the Human Variome Project
- Driving activity around medical genetics and genomics, ensuring this is done in a responsible way – respecting all ELS issues. Such activity may include:
- Education – public, continuing medical education (CME), etc.
- Promotion of public funding of genetic testing and genetic health care services
- Submission to databases as part of the licensing requirements of diagnostic laboratories
- Act as a “spokesperson” for the Human Variome Project within the country on issues of importance to the international Project.