The Human Variome Project (HVP) grew its membership and established initiatives between 2016-2020. It published standards and guidelines and strengthened relationships with international organizations. Its goals were increasing publicly available genomic variant data and supporting clinical genomics worldwide. To achieve this, it aimed to facilitate data sharing partnerships, promote standards, advance research, build genomic capacities, and train the next generation of scientists. Moving forward, it plans for its coordination function to transition to a new not-for-profit called Global Variome Ltd.

1. Project Roadmap 2016-2020
Chris Arnold

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Global Collection
Architecture

4. 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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6. 6
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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7. 7
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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8. 8
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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9. 9
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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10. 10
To encourage meaningful and
substantive advances in
research into the human
variome.
Objective 3
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11. 11
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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12. 12
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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13. 13
Implementation
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14. • 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