✦ LIBER ✦

Initiating a Human Variome Project Country Node

✍ Scribed by Jumana AlAama; Timothy D. Smith; Alan Lo; Heather Howard; Alexandria A. Kline; Matthew Lange; Jim Kaput; Richard G.H. Cotton

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 140 KB
Volume: 32
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.21463

No coin nor oath required. For personal study only.

✦ Synopsis

Genetic diseases are a pressing global health problem that requires comprehensive access to basic clinical and genetic data to counter. The creation of regional and international databases that can be easily accessed by clinicians and diagnostic labs will greatly improve our ability to accurately diagnose and treat patients with genetic disorders. The Human Variome Project is currently working in conjunction with human genetics societies to achieve this by establishing systems to collect every mutation reported by a diagnostic laboratory, clinic, or research laboratory in a country and store these within a national repository, or HVP Country Node. Nodes have already been initiated in Australia, Belgium, China, Egypt, Malaysia, and Kuwait. Each is examining how to systematically collect and share genetic, clinical, and biochemical information in a country-specific manner that is sensitive to local ethical and cultural issues. This article gathers cases of genetic data collection within countries and takes recommendations from the global community to develop a procedure for countries wishing to establish their own collection system as part of the Human Variome Project. We hope this may lead to standard practices to facilitate global collection of data and allow efficient use in clinical practice, research and therapy.

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