Human Variome Project Australian Node
Timothy D. Smith
Human Variome Project International Ltd.
Human Variome Project
Our Core Purpose is to alleviate needless human suffering for many millions of the
world’s people by collecting, organising and sharing data on genetic variation.
Aim: to make collection as effortless as possible
Solution: Collect data directly from the source
Challenges
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We’re talking about genetic data
–
A special class of data
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Legal
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Ethical
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Cultural
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Technical
How do we design a system that can automatically collect genetic data from hundreds of
labs across some 150 countries, each with differing legal, ethical, cultural and technical
concerns?
A system of systems – or a network of HVP Country Nodes
International
Human Variome Project
Secure access
Australia
China
A Single Node
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Stores data from a single country
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Managed locally
•
Local access
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Single legal and ethical framework
•
Provides direct in-country benefits
•
Relatively simple way for a country to
contribute to the global effort
The Australian Node
A resource designed to make your lives easier.
Shared knowledge from all Australian diagnostic labs.
Replace the corridor chats and serendipitous discoveries.
Aim
Purpose
Collect every instance of genetic variation
•
Help diagnostic labs do their job
reported by Australian diagnostic
•
Unify variant interpretation across the
laboratories and the interpretations of
those variants.
country
•
Facilitate easier multi-institution QC
programs
•
Provide a platform for medical
research
Molecular Data Fields
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Mandatory
•
Optional
–
Gene Accession # and version
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Variant Name (as HGVS nomenclature)
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Date of test
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Pathogenicity Classification
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Method
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Date of classification
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Sample Type
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Start
•
Stop
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Test Details
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Age (at test)
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Disease
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Misc.
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Sample Stored
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Pedigree Available
Australian Node Data Flow
BioGrid
NODE
RESEARCH
Worldwide Context
The Human Variome Project
•
International Confederation of
Countries Advisory Council
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Each Node can appoint a
representative
•
ICC sets Standards and Guidelines for
HVP Country Nodes
–
Minimal international data set
–
Repository Systems
Human Variome Project Australian Node
Timothy D. Smith
tim@variome.org