Recommendations E-mail

The Human Variome Project Consortium both supports the work of its individual members by developing and publishing standards and guidelines for the free and open collection, curation, interpretation and sharing of genetic variation data. These standards and guidelines are produced by HVP Working Groups in a deliberative and consultative fashion, following the Human Variome Project’s Activity Process.

Standards and Guidelines

The Human Variome Project produces two categories of recommendations: HVP Standards and HVP Guidelines. HVP Standards are those systems, procedures and technologies that the Human Variome Project Consortium has determined should be used by the community. These carry more weight than the less prescriptive HVP Guidelines, which cover those systems, procedures and technologies that the Human Variome Project Consortium has determined would be beneficial for the community to adopt.

HVP Standards and Guidelines are central to supporting the work of the Human Variome Project Consortium and cover a wide range of fields and disciplines, from ethics to nomenclature, data transfer protocols to collection protocols from clinics. They can be thought of as both technical manuals and scientific documents, and while the impact of HVP Standards and Guidelines differ, they are both generated in a similar fashion.

Process Summary

The process of developing a new standard or guideline is triggered whenever a Consortium member submits a request to develop a standard or guideline to the International Scientific Advisory Committee for review (via This e-mail address is being protected from spambots. You need JavaScript enabled to view it ). The International Scientific Advisory Committee receives the request through the International Coordinating Office and refers it to the appropriate Sponsoring Council for review.

Once the Sponsoring Council determines that the request should be granted, it instructs the International Coordinating Office to work with the requesting Consortium Member to recruit a volunteer Working Group to develop the draft standard. Working Group members can be any individual who has the necessary expertise or experience to make a substantial contribution to the draft standard. They do not need to be a member of the Human Variome Project Consortium, although this is encouraged. Terms of reference for each Working Group are established by the Sponsoring Council.

Working Groups are free to set their own organisation and meeting structure, but must regularly report their progress to the Sponsoring Council. The role of the Working Group is to achieve consensus on the content of the required standard or guideline and to develop the exposure draft that can be released for comment to the Consortium membership. This process may involve the authoring of multiple versions of the draft standard.

The exposure draft undergoes a period of public comment during which members of the Human Variome Project Consortium can voice their opinions on the content of the draft standard. All comments are referred back to the Working Group who must incorporate them in the final draft standard.

Once consensus amongst the Working Group has been achieved on the final draft standard, the Working Group Chair forwards it to the Sponsoring Council for consideration. The Sponsoring Council votes on the final draft standard and, when approved, recommends publication of the standard or guideline to the International Scientific Advisory Committee. The International Scientific Advisory Committee then decides to publish the standard or guideline, or refer it back to the Sponsoring Council for further refinement.

Other Pathways to Action

Pathways to Action

The Human Variome Project Consortium recognises that not all activities can immediately enter the Standards Development Process. Some topics need discussion and debate amongst the wider Consortium first before specific issues can be addressed by Standards and Gudielines. To this end, the Project has a number of Interest Groups structured around broad topic areas, and a process for generating interest amongst the Consortium through Reports on topics.

Recommended Systems

The capacity exists for the Human Variome Project Consortium to recommend the use of specific systems and infrastructure without publishing such a recommendation as an HVP Standard or Guideline. The developers of such systems can apply to the appropriate Advisory Council through the Coordinating Office for a Warrant of Recommendation, and upon the completion of a review by the Advisory Council, the Scientific Advisory Committee shall decide if such a warrant is to be issued.

The Scientific Advisory Committee is the arbiter of the conditions that systems must meet in order to qualify for a Warrant of Recommendation. However, in broad terms, systems must be: free to the academic community; comply with all HVP Standards and Guidelines; be open-source where applicable; and be compatible with similar systems already recommended by the Human Variome Project Consortium.

Affiliated Initiatives

The Scientific Advisory Committee, acting upon the recommendation of one or both of the Advisory Councils, may decide to issue a Warrant of Affiliation to specific relevant projects. Projects may be offered affiliated status in recognition of their impact and relevance to the overall vision and objectives of the Human Variome Project. Affiliated Projects receive no special treatment or favour from the Consortium above the publishing of their status on the Human Variome Project website.


From time to time, the Human Variome Project Consortium will publish outcomes from its various meetings under the general heading of Recommendations.