Setting up an HVP Country Node

First things to consider

Within the framework provided by the Human Variome Project definition of an HVP Country Node consider:

  1. What service can your Node provide at the national level?
  2. How can it contribute to the international network?

After considering the role of the Node, issues to think about are:

  1. Where the Node will collect data from, and how
  2. What information the Node will collect on each variant
  3. How the collected data will be made available and to whom
  4. Who needs to be involved to make this possible
  5. How the Node will be funded and administered

The issues of what data sources to collect from, ownership of data and access rights are interconnected

Permission to collect from certain sources may only be granted if the Node agrees to certain access rights and ownership provisions

Tip

Experience tells us that these issues need to be addressed before any technical development begins. Health priorities need to drive the technical solutions—rather than the other way around.

Building an organization

When establishing a Country Node three things are important:

  1. Building the database
  2. Building the organisation
  3. Developing and implementing the policies to support the on-going functioning of the Node

The repository is managed locally by a committee or organisation that has sufficient representation of stakeholder groups and the backing or support of the country’s human genetics society or similar professional body…[ This organisation] would be responsible for ensuring the sustainability of the repository and compliance with local laws, regulations and ethics requirements, as well as determining policies for the repository (e.g. data access policy, data retention policy, curation policy, etc.)

One size does not fit all—HVP Country Nodes often start as a:

  • Consortium of interested individuals
  • University Department
  • Sub-group within the local Human Genetics Society
  • Government initiative, working group or committee
  • Combination of multiple groups.

Who should be involved?

When setting up a Node there are many individuals or groups who have a valuable contribution to make. Where you find these people will depend on local circumstances as well as the health priorities driving the generation of variant information. When setting up a Node the following list needs to be given careful consideration and the local relevant equivalent groups identified in a systematic manner.

  • Diagnostic laboratories
  • Medical geneticists
  • Genetic Counsellors
  • Researchers
  • Ethicists
  • Officials from the Ministry of Health, Ministry of Science and Technology
  • National and regional genetics societies
  • Professional Bodies in charge of certifying labs and medical geneticists
  • Paraprofessional groups
  • Patient groups

Tip

Experience tells us that HVP Country Nodes often start with small informal groups drawn from the above, however to become sustainable, the group needs to eventually involve representatives from most of these groups in a more formal manner.

Formulating a plan of action

Setting up a Node depends on a mix of technical and ‘political’ issues. Some work needs to be done on building a case to convince others to become part of the plan of action.

This case needs to draw on:

  • The ethical, legal and social framework which exists at a national level, including:
  • Government, regulatory and legal frameworks
  • Professional codes of practice
  • Quality controls, standards
  • What data sources are willing to share - political
  • What data is able to be collected - technical
  • How useful the data will be to the end-users

Tip

Experience tell us that starting small, with what is possible, practical and can be accomplished relatively easily is the best way to build a case and draw others in; from modest success, more ambitious plans can be more easily drawn up - be prepared to grow.