Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.

Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific results or weighed deliberations against relevant local contextual factors.

Portability of an algorithm to identify rheumatoid arthritis in electronic health records.

Electronic health records (EHR) can allow for the generation of large cohorts of individuals with given diseases for clinical and genomic research. A rate-limiting step is the development of electronic phenotype selection algorithms to find such cohorts. This study evaluated the portability of a published phenotype algorithm to identify rheumatoid arthritis (RA) patients from EHR records at three institutions with different EHR systems.

Electronic medical records as a tool in clinical pharmacology: opportunities and challenges.

The development and increasing sophistication of electronic medical record (EMR) systems hold the promise of not only improving patient care but also providing unprecedented opportunities for discovery in the fields of basic, translational, and implementation sciences. Clinical pharmacology research in the EMR environment has only recently started to become a reality, with EMRs becoming increasingly populated, methods to mine drug response and other phenotypes becoming more sophisticated, and links being established with DNA repositories.

Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project.

The promise of "personalized medicine" guided by an understanding of each individual's genome has been fostered by increasingly powerful and economical methods to acquire clinically relevant information. We describe the operational implementation of prospective genotyping linked to an advanced clinical decision-support system to guide individualized health care in a large academic health center.

Detecting temporal expressions in medical narratives.

Clinical practice and epidemiological information aggregation require knowing when, how long, and in what sequence medically relevant events occur. The Temporal Awareness and Reasoning Systems for Question Interpretation (TARSQI) Toolkit (TTK) is a complete, open source software package for the temporal ordering of events within narrative text documents. TTK was developed on newspaper articles. We extended TTK to support medical notes using veterans' affairs (VA) clinical notes and compared it to TTK.

Optimizing drug outcomes through pharmacogenetics: a case for preemptive genotyping.

Routine integration of genotype data into drug decision making could improve patient safety, particularly if many relevant genetic variants can be assayed simultaneously before prescribing the target drug. The frequency of opportunities for pharmacogenetic prescribing and the potential adverse events (AEs) mitigated are unknown. We examined the frequency with which 56 medications with known outcomes influenced by variant alleles were prescribed in a cohort of 52,942 medical home patients at Vanderbilt University Medical Center (VUMC).

Extracting epidemiologic exposure and outcome terms from literature using machine learning approaches.

Much epidemiologic information resides in literature, which is not in a computable format. To extract information and build knowledge bases of epidemiologic studies, we developed a system to extract noun phrases about epidemiologic exposures and outcomes. The system consists of two components: a natural language processing (NLP) engine; a machine learning (ML) based classifier. Four ML algorithms were applied and compared over different feature sets. To evaluate the performance of the system, we manually constructed an annotated dataset.

Comparative analysis of pharmacovigilance methods in the detection of adverse drug reactions using electronic medical records.

Medication  safety requires that each drug be monitored throughout its market life as early detection of adverse drug reactions (ADRs) can lead to alerts that prevent patient harm. Recently, electronic medical records (EMRs) have emerged as a valuable resource for pharmacovigilance. This study examines the use of retrospective medication orders and inpatient laboratory results documented in the EMR to identify ADRs.

Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing.

Greater clinical validity and economic feasibility are driving the more widespread use of multiplex genetic technologies in routine clinical care, especially for applications in pharmacogenomics. Empirical data on the numbers and types of incidental findings generated through such testing are needed to develop policies and practices related to their clinical use. Of particular importance are disparities in findings relevant to different ancestry groups.