Electronoc Medical Records and Genomic Information

798 Words2 Pages

The Electronic Medical Records and Genomics (eMERGE) Network is a National Human Genome Research Institute (NHGRI)–funded consortium which has been developing tools and practices for the utilization of electronic medical records (EMR) and genomic information towards patient healthcare. As collaborative effort between 9 different centers, eMERGE is targeted towards the utilization of phenotypic information to find out causative factors for genetic disorders, pharmacogenomics studies, predisposition of individuals to certain conditions such childhood obesity, autism and the integration of the results genetic studies into EMRs [1].
Any study of such a nature requires that the quality of data found in both the EMR and the genetic repository meet a certain level of uniformity and quality. This can be a challenge for most EMR systems. There is an inherent variation in the EMRs due to different styles of implementation of the EMR systems, difference in data recording styles of different physicians and the variations due to disease requirements for the patients. In addition to these, there is a large amount of medical information captured as free notes. The processing of such information requires natural language processing which is still in the research arena. The area is not mature enough to guarantee uniform and good quality information to facilitate clinical decision support systems [2]. To give good phenotypic information for genetic studies, and integrated EHR needs to have information regarding the mutations present in an individual and also the family history, though the family member may not exhibit the clinical syndrome [2]. Such details however may not be available in most EHR systems today. The size of the genetic data is...

... middle of paper ...

...aucett, R. Li, T. A. Manolio, et al., "The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future," Genet Med, vol. 15, pp. 761-71, Oct 2013.
[2] K. Marsolo and S. A. Spooner, "Clinical genomics in the world of the electronic health record," Genet Med, vol. 15, pp. 786-91, Oct 2013.
[3] A. G. Ury, "Storing and interpreting genomic information in widely deployed electronic health record systems," Genet Med, vol. 15, pp. 779-785, 10//print 2013.
[4] J. L. Kannry and M. S. Williams, "Integration of genomics into the electronic health record: mapping terra incognita," Genet Med, vol. 15, pp. 757-760, 10//print 2013.
[5] J. F. Peterson, E. Bowton, J. R. Field, M. Beller, J. Mitchell, J. Schildcrout, et al., "Electronic health record design and implementation for pharmacogenomics: a local perspective," Genet Med, vol. 15, pp. 833-41, Oct 2013.

Open Document