Project Roadmap 2012-2016 is an important document for the Human Variome Project. It sets the strategic scientific direction of the Project and articulates what the Project will achieve by 2016. It is visionary and it is time-bound. It seeks to guide the work of the Human Variome Project over the course of the next four years.

Progress against the Roadmap will be constantly monitored by the International Coordinating Office and reported to the Consortium.

HVP5, the 5th Biennial Meeting of the Human Variome Project in 2014 will provide a timely point to check progress and adjust strategies for the remaining two years of the Roadmap. Also at this meeting, the process of developing the next Project Roadmap, covering the period of 2016-2020, will begin.

Project Roadmap 2012-2016 will guide the Human Variome Project to be one of the world’s most significantcatalysts for the reduction in human disease in the 21st century. It outlines a target for what the Project mustachieve by 2016 and key strategies to reach it. These strategies are organised in a framework of four pillars.These describe the major areas of activity for the Human Variome Project and are designed to focus efforts on thekey areas identified by the membership that will enable the Human Variome Project to move forward successfully. The four areas are:

1. Setting Normative Function;
2. Behaving Ethically;
3. Sharing Knowledge; and
4. Building Capacity.

By 2016, the Human Variome Project Consortium and wider community will have achieved the following:

• a spectrum of HVP Standards and Guidelines, developed through the Project’s Standards Development Process and communicated via a Solution Blueprint, that fully describe the technicaland administrative aspects of developing, operating and maintaining the various components of the Global Collection Architecture;
• a process of accreditation for Human Variome Project data repository infrastructure (HVP CountryNodes and gene/disease specific databases);
• high quality, complete and accredited gene/disease specific databases for at least 3,000 genes with work underway for a further 5,000 to be completed by 2022;
• HVP Country Nodes in over 40 countries sharing information with international gene/diseasespecific databases;
• an organisational framework that supports Consortium members to behave ethically;
• an education and training strategy that provides a range of professional development and educationalprogrammes for Human Variome Project Consortium members; and
• training programmes and knowledge sharing initiatives designed to build capacity around medicalgenetics and genomics in low- and middle-income countries.