title: A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine.
abstract: BACKGROUND
  In genomics and other fields, it is now possible to capture and store large amounts of data in electronic medical records (EMRs). However, it is not clear if the routine accumulation of massive amounts of (largely uninterpretable) data will yield any health benefits to patients. Nevertheless, the use of large-scale medical data is likely to grow. To meet emerging challenges and facilitate optimal use of genomic data, our institution initiated a comprehensive planning process that addresses the needs of all stakeholders (e.g., patients, families, healthcare providers, researchers, technical staff, administrators). Our experience with this process and a key genomics research project contributed to the proposed framework.
  
  
  METHODS
  We propose a two-pronged Genomic Clinical Decision Support System (CDSS) that encompasses the concept of the "Clinical Mendeliome" as a patient-centric list of genomic variants that are clinically actionable and introduces the concept of the "Archival Value Criterion" as a decision-making formalism that approximates the cost-effectiveness of capturing, storing, and curating genome-scale sequencing data. We describe a prototype Genomic CDSS that we developed as a first step toward implementation of the framework.
  
  
  CONCLUSIONS
  The proposed framework and prototype solution are designed to address the perspectives of stakeholders, stimulate effective clinical use of genomic data, drive genomic research, and meet current and future needs. The framework also can be broadly applied to additional fields, including other '-omics' fields. We advocate for the creation of a Task Force on the Clinical Mendeliome, charged with defining Clinical Mendeliomes and drafting clinical guidelines for their use.
authors.affiliation: Department of Genetics, University of North Carolina at Chapel Hill; Department of Medicine, University of North Carolina at Chapel Hill.
authors.forename: James P
authors.initials: JP
authors.lastname: Evans
authors.affiliation: Department of Genetics, University of North Carolina at Chapel Hill; Department of Neurology, University of North Carolina at Chapel Hill.
authors.forename: Kirk C
authors.initials: KC
authors.lastname: Wilhelmsen
authors.affiliation: Department of Genetics, University of North Carolina at Chapel Hill.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Berg
authors.affiliation: Renaissance Computing Institute, University of North Carolina at Chapel Hill.
authors.forename: Charles P
authors.initials: CP
authors.lastname: Schmitt
authors.affiliation: Renaissance Computing Institute, University of North Carolina at Chapel Hill.
authors.forename: Ashok
authors.initials: A
authors.lastname: Krishnamurthy
authors.affiliation: Renaissance Computing Institute, University of North Carolina at Chapel Hill.
authors.forename: Karamarie
authors.initials: K
authors.lastname: Fecho
authors.affiliation: Department of Computer Science, University of North Carolina at Chapel Hill; Renaissance Computing Institute, University of North Carolina at Chapel Hill.
authors.forename: Stanley C
authors.initials: SC
authors.lastname: Ahalt
keywords: clinical decision support; electronic medical records; genomics