Project Roadmap 2012-2016

CHRIS ARNOLD Board Member

Human Variome Project International Ltd

• 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

Project Roadmap 2012-2016

• 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

Our Previous Roadmap

• 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

Achievements

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

Built on 4 Overlapping Pillars

Picture Credits: Michael Mandiberg via Flickr, Henrik Moltke

Setting Normative Function

Behaving Ethically

Sharing Knowledge

Building Capacity

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

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

Setting Normative Function

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

Behaving Ethically

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

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

Sharing Knowledge

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

Building Capacity

• 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

Targets

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

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

• 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

Structure of this Meeting

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

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

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

• HVP HAS COME A LONG WAY

• CONTINUE THE DIALOGUE

• ENGAGE

• ACT

• RE-VISIT ROAD MAP IN 2014