Clinical genomics in the world of the electronic health record

Abstract

The widespread of adoption of EHRs presents a number of benefits to the field of clinical genomics. They include the ability to return results to the practitioner, the ability to use genetic findings in clinical decision support, and to have data collected in the EHR serve as a source of phenotypic information for analysis purposes. Not all EHRs are created equal, however. They differ in their features, capabilities and ease-of-use. Therefore, in order to understand the potential of the EHR, it is first necessary to understand its capabilities and the impact that implementation strategy has on usability. Specifically, we focus on the following areas: 1) how the EHR is used to capture data in clinical practice settings; 2) how the implementation and configuration of the EHR affects the quality and availability of data; 3) the management of clinical genetic test results and the feasibility of EHR integration; and 4) the challenges of implementing an EHR in a research-intensive environment. This is followed by a discussion of the minimum functional requirements that an EHR must meet to enable the satisfactory integration of genomic results as well as the open issues that remain.

Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example

“…Recently, the electronic MEdical Records and GEnomics (eMERGE) network outlined challenges and opportunities for integrating genetic data into an electronic health records (De Jager et al, 2009) system. One issue identified was the automated interpretation of genetic data (Gottesman et al, 2013; Kho et al, 2013; Marsolo and Spooner, 2013; Ury, 2013). The sheer size of genomic data provides many interpretative challenges, particularly in the age of whole genome sequencing with billions of variant base pairs, many of which are de novo .…”

Applications of business analytics in healthcare

“…While the interoperability requirements of Meaningful Use (MU) (Blumenthal and Tavenner, 2010) are causing institutions to consolidate their clinical information systems into enterprise-wide EHRs, (Marsolo and Spooner, 2013) most institutions still rely on a host of platforms. Examples of such platforms are described below and summarized in Table 1, though it is not meant to be an exhaustive list.…”

“…EHRs are used to capture family, social, surgical, and medical history, allergies and immunizations, laboratory results, clinical findings, clinical orders, and other condition-specific information. Depending on the configuration of the EHR, this information may either exist in discrete fields or be captured as part of free-text notes (Marsolo and Spooner, 2013). …”

The Evolution of EHR-S Functionality for Care and Coordination

“…EHR-S functionalities for handling personal genomic data include the ability to: (a) store and share it in a clinically computable and usable format, (b) link to phenotypic information and (c) display and link fi ndings and test results [ 64 ] to patient-directed information and decision tools. These functionalities are needed in several clinical domains: obstetrics/gynecology, pediatrics and oncology, among others.…”