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The futility of genomic counseling: essential role of electronic health records

Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advanced considerably. The routine generation of whole-genome sequence data for individual patient...

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Detalles Bibliográficos
Autores principales: Belmont, John, McGuire, Amy L
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689440/
https://www.ncbi.nlm.nih.gov/pubmed/19439060
http://dx.doi.org/10.1186/gm48
Descripción
Sumario:Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advanced considerably. The routine generation of whole-genome sequence data for individual patients will soon be sufficiently cost-effective for widespread clinical integration. Yet, the clinical utility of whole-genome data is currently limited by an inability to effectively process, store, interpret and update genomic data, while at the same time protecting patient privacy. Enter the electronic health record. We propose that without the integration of a dynamic uniform electronic health record, counseling patients on the basis of genome-wide data will be futile.