The document presents the Project Roadmap 2012-2016 of the Human Variome Project International Ltd. It summarizes achievements since the previous 2010 roadmap and outlines the vision, goals and plan to advance the project over the 2012-2016 period. The roadmap is built around 4 pillars - setting normative function, behaving ethically, sharing knowledge, and building capacity. Key targets include developing standards and guidelines, increasing membership, ethical and educational initiatives, and establishing more country nodes and disease-specific databases. Challenges and securing long-term funding are also discussed. Members are invited to engage in discussions and help implement the roadmap through considered actions. Progress will be reviewed at the halfway point in 2014.

1. Project Roadmap 2012-2016
CHRIS ARNOLD
Board Member
Human Variome Project International Ltd

2. Project Roadmap 2012-2016
• What is it to us?
– An articulation of our vision for the future
– A set of goals for the medium-term
– A broad-strokes plan for achieving these goals
– A tool for keeping us on track
• What is it to those outside the Consortium?
– Evidence of our commitment
– A clear statement
• What is the Human Variome Project
• Why the Human Variome Project is
important

3. Our Previous Roadmap
• The first one produced by the
Project
• Release April, 2010
• Adopted by the Consortium at
HVP3
• Presented our One Project-Two
Channels-Multiple Locations
strategy
• Set an ambitious action plan –
targets achieved

4. Achievements
• We have come a long way!
– 740+ Consortium members
– 14 Country Nodes and growing
– 39 Gene/Disease Specific Databases
• Articulation of One Project-Two
Channels-Multiple Locations strategy
• Standards Development Process
• Governance Structure and Processes
– Essential to transparent and sustainable
future
• Company established with board
of management
• Clear governance policies and
protocols
• International Scientific Advisory
Committee
• Advisory Councils

5. Project Roadmap 2012-2016
• Cements the 2010 Vision, Mission, and Values
• Builds on the international community of interest which is the Human
Variome Project
– 740 members, 69 countries represented
• Produced by an extensive member consultation process over twelve
months
• Evolves strategy from 2010-2012 plan
• Unifies the consortium under an agreed set of goals

6. Built on 4 Overlapping Pillars
Setting
Behaving Sharing Building
Normative
Ethically Knowledge Capacity
Function
Picture Credits: Michael Mandiberg via Flickr, Henrik Moltke

7. Setting Normative Function
1. Continue the expansion of infrastructure and associated
organisational structures defined by the Global Collection Architecture
proposed in the One Project-Two Channels-Multiple Locations Strategy
2. Increase development of HVP Standards and Guidelines especially in
areas of priority as determined by the Human Variome Project
Consortium
3. Regularly publish the Human Variome Project Solution Blueprint and
encourage compliance amongst existing data infrastructure

8. Setting Normative Function
4. Develop a process for monitoring compliance with the Human
Variome Project Solution Blueprint and providing accreditation
to new and existing infrastructure
5. Encourage the development and use of open-source tools and
systems that enable infrastructure to be developed and
operated in compliance with the Human Variome Project
Solution Blueprint

9. Behaving Ethically
1. Develop a more systematic approach to ethical, legal, social and
cultural issues related to the practice of genetic and genomic
medicine
2. Coordinate the development of suitable tools and guides to
assist members in their work
3. Improve knowledge levels through learning activities related to
ethical, legal and social issues

10. Sharing Knowledge
1. Increase membership and the breadth of skills within the
Consortium
2. Encourage knowledge sharing between Consortium members
through the development of knowledge exchange
ventures, professional development and training courses

11. Sharing Knowledge
3. Participate in Public education initiatives through the
engagement of Consortium members at the national and
regional level
4. Work with the burgeoning rare disease movement to enhance
cooperation around complementary endeavours

12. Building Capacity
1. Draw on the efforts of national and regional societies to develop
a strategic approach to education and training issues in genetic
and genomic medicine that is coordinated globally
2. Devise ways to bridge the gap in skills and expertise between
the developed and the developing worlds
3. Ensure that young people are attracted to the field on an on-
going basis to build the global future of genomics and genetics

13. Targets
• a spectrum of HVP Standards and
Guidelines communicated via the
Solution Blueprint
• a process of accreditation HVP
Country Nodes and gene/disease
specific databases
• databases for at least 3,000 genes
• 40 HVP Country Nodes
• an ethical framework
• an education and training strategy
• and training programmes and
knowledge sharing initiatives

14. Challenges
• Road Map targets are ambitious
• A few challenges to reflect upon:
– New Sequencing Technologies
– Clinical utility of Databases
– Creating new Gene/disease specific
databases
– Sustainability

15. Sustainability
• Funding is required for:
– HVP Country Nodes
– Gene/Disease specific databases
– International Coordinating Office
• Must create a conducive environment
• Develop and implement a plan to secure funds

16. Structure of this Meeting
• Structured around the
Roadmap and the Human
Variome Project’s 4 pillars
• Roadmap provides structure
• Main Meeting is the
opportunity to discuss and
debate
• Delegates provide
recommendations to Councils
and International Scientific
Advisory Committee

17. Paris Meeting Outcomes
• Agreed actions promulgated at meetings on Friday of the 2 Advisory
Councils and Scientific Advisory Committee
• Support from HVPI Coordination office to progress agreed actions
• 2014 Meeting – opportunity to review progress-
– What is working well / to be extended
– What requires some change/eliminate
– What needs to commence
• The Roadmap and the action plans derived from it are Living
Documents

18. Your invitation - and challenge as
consortium members
• Engage - with each other
• Consider - the Roadmap and how the project can evolve in a
sustainable manner
• Develop plans - put flesh around the Roadmap with well
considered actions which can reasonably be implemented

19. Feedback
• HVP5 – halfway point in 2014
– Pause, reflect, regroup
• We welcome feedback from you at any time
– This is part of an on-going process of achieving our goal

20. • HVP HAS COME A LONG WAY
• CONTINUE THE DIALOGUE
• ENGAGE
• ACT
• RE-VISIT ROAD MAP IN 2014