Project Roadmap 2016-2020

Chris Arnold

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Global Collection Architecture

Membership Growth– +665 Individual Members (1200+ total)– +6 Institutional Members (6 total)– +20 Data Provider Members (60+ total)

Project Wide Initiatives Established– BRCA Challenge (with Global Alliance for Genomics and Health)– Global Globin 2020 Challenge

HVP Standards and Guidelines Published– HVP/GL/001-01/EN: Gene/Disease Specific Variant Database Quality Parameters– HVP/GL/002-01/EN: Disclaimer Statements for Gene/Disease Specific Databases– HVP/GL/003-01/EN: Variant Terminology and Exon Numbering

Relationships with Intergovernmental Organisations– Admitted to Associate Status with UNESCO– Memorandum of Understanding signed with WHO to work with them to establish a

global program on medical genetics and genomics

Achievements

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Overarching Vision of the Human Variome

Project

A world where the availability of and access to

genomic variant information by both experts and

the general public is not an impediment to

diagnosis and treatment; where the burden of

disease on the human population is significantly

decreased; and where the sharing of genomic

variant information is standard clinical practice.

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Goal for 2020

To increase the amount of information about

clinically validated and classified genomic

variants available on the internet in open,

curated databases, by means of cooperation at

the individual, organisational, national, regional

and international levels, so that all people can

benefit from advances in genomic medicine.

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To facilitate growth in the amount of quality curated genomic variant data that is publicly available in all regions of the world, through developing and consolidating effective partnerships that better coordinate data collection and sharing efforts across the world.

Objective 1

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To support the further integration of genomics into mainstream clinical practice through the development and promotion of international standards and best-practice guidelines.

Objective 2

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To encourage meaningful and substantive advances in research into the human variome.

Objective 3

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To strengthen national capacity in genomic variant data collection and sharing through both the delivery of strategic and targeted training, education and capacity building programs, and using effective partnerships with organizations sharing common interests.

Objective 4

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To ensure that the next generation of scientists are attuned to collecting and sharing quality genomic variant data in a manner that is fair, open, equitable and sustainable.

Objective 5

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Implementation

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• HVP project continuing from strength to strength• Need to look at a new paradigm for coordination

– based in time zone more able to deal with the multiple global players • HVPIL wind up 30 June• UNESCO, WHO affiliation, with coordination function to move

to a new not for profit called Global Variome Ltd,• Board of HVPIL will move to this new organisation to ensure

continuity and drive both fund raising for sustainability and collaboration

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Coordination