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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 facilitating the creation of these repositories through its Human Variome Project Country Node program: automated or semi-automated systems designed to collect every mutation reported by a diagnostic laboratory, clinic or research laboratory in a country and store these within a national repository. HVP Country Nodes have been established in six countries including Kuwait and Egypt.
HVP Country Nodes serve three functions: first and foremost, they allow data to be shared amongst the diagnostic labs and clinics in any one country to support genetic testing services for patients; secondly, data from the Nodes can also be shared with gene/disease-specific databases and central variation depositories (e.g. NCBI’s dbGaP) in a manner that complies with each country’s existing privacy legislation and ethics obligations. Finally, these repositories allow the genetic burden of disease in individual countries to be quantified, which in turn can be used to better target healthcare planning and policy development. |
