At the Interface between Medical Informatics and Personalized Medicine: The eMERGE Network Experience
2013; Volume: 19; Issue: 2 Linguagem: Inglês
10.4258/hir.2013.19.2.67
ISSN2093-369X
Autores Tópico(s)BRCA gene mutations in cancer
ResumoAn important goal of the human genome project was the promise that detailed information about variation in an individual’s genome would inform healthcare providers and patients about their disease susceptibility and predict response to therapy. Often described as Personalized Medi cine, the use of genomic information promises to improve the quality of healthcare. Medical informatics will play an important role in the successful implementation of Personalized Medicine. Without medical informatics support and Electronic Medical Records it would be extremely difficult to provide the clinical decision support that is critical to enable healthcare providers to effectively use genomic information. In addition, there is great need to discover new associations between genetic variations and disease susceptibility or therapeutic outcomes that can ultimately be applied to clinical care. One approach to discovering these novel associations between genetic variation and therapeutic outcomes has been through linking genomic information to information from Electronic Health Records (EHR) in a discovery mode. The eMERGE (Electronic MEdical Records and GEnomics), is a network of nine academic medical centers with a DNA biobank linked to EHR [1,2]. The eMERGE consortium is funded by the National Human Genome Research Institute at the National Institutes of Health and includes investiga
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