The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

Abstract

The Electronic Medical Records and Genomics (eMERGE) Network is a National Human Genome Research Institute (NHGRI)-funded consortium engaged in the development of methods and best-practices for utilizing the Electronic Medical Record (EMR) as a tool for genomic research. Now in its sixth year, its second funding cycle and comprising nine research groups and a coordinating center, the network has played a major role in validating the concept that clinical data derived from EMRs can be used successfully for genomic research. Current work is advancing knowledge in multiple disciplines at the intersection of genomics and healthcare informatics, particularly electronic phenotyping, genome-wide association studies, genomic medicine implementation and the ethical and regulatory issues associated with genomics research and returning results to study participants. Here we describe the evolution, accomplishments, opportunities and challenges of the network since its inception as a five-group consortium focused on genotype-phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting towards implementation of genomic medicine.

Integration of Complex Data Sources to Provide Biologic Insight into Pulmonary Vascular Disease (2015 Grover Conference Series)

“…While our approach has attempted to leverage the pleiotropy of miRNAs in constructing our discovery platform, an obvious next step would include an overlay of our expanding appreciation of the genomic architectural landscape and genetic associations relevant to PH. 20,26 Alternatively, or perhaps in combination, the emerging renaissance of information regarding mammalian metabolic networks could lead to an ample foundation for systems-based discovery, particularly in the pulmonary vasculature. 18,22,25 New technologies to procure diseased PAH tissue from living PH patients 23,27-29 will also figure prominently in further building our repertoire of highthroughput molecular profiling in this disease.…”

Pragmatic precision oncology: the secondary uses of clinical tumor molecular profiling

“…The strengths of this approach are modeled on the successful strategy of the Electronic Medical Records and Genomics network by linking molecular information to existing clinical data warehouses. 24 Furthermore, the patients who undergo molecular profiling in a pragmatic manner represent unique clinical substrates of exceptional responders or resistant tumors in many cases. Patients within this database constitute more advanced cancers than those represented in databases such as The Cancer Genome Atlas.…”

Integrative methods for analyzing big data in precision medicine

“…EHR data are increasingly becoming available for academic research purposes and they present numerous computational challenges that are yet to be addressed. Two major computational challenges include developing algorithms for: 1) individual phenotyping (i.e., annotating patient records with disease conditions) [175] and 2) integration of EHR data with omics data for better understanding of disease mechanisms and treatments [176]. The biggest obstacles of the first challenge are nosiness and incompleteness of the EHR data that needs to be properly taken into account.…”