title: Development of a large-scale de-identified DNA biobank to enable personalized medicine.
abstract: Our objective was to develop a DNA biobank linked to phenotypic data derived from an electronic medical record (EMR) system. An "opt-out" model was implemented after significant review and revision. The plan included (i) development and maintenance of a de-identified mirror image of the EMR, namely, the "synthetic derivative" (SD) and (ii) DNA extracted from discarded blood samples and linked to the SD. Surveys of patients indicated general acceptance of the concept, with only a minority ( approximately 5%) opposing it. As a result, mechanisms to facilitate opt-out included publicity and revision of a standard "consent to treatment" form. Algorithms for sample handling and procedures for de-identification were developed and validated in order to ensure acceptable error rates (<0.3 and <0.1%, respectively). The rate of sample accrual is 700-900 samples/week. The advantages of this approach are the rate of sample acquisition and the diversity of phenotypes based on EMRs.
authors.affiliation: Office of Personalized Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. dan.roden@vanderbilt.edu
authors.forename: D M
authors.initials: DM
authors.lastname: Roden
authors.forename: J M
authors.initials: JM
authors.lastname: Pulley
authors.forename: M A
authors.initials: MA
authors.lastname: Basford
authors.forename: G R
authors.initials: GR
authors.lastname: Bernard
authors.forename: E W
authors.initials: EW
authors.lastname: Clayton
authors.forename: J R
authors.initials: JR
authors.lastname: Balser
authors.forename: D R
authors.initials: DR
authors.lastname: Masys
mesh_terms: D000046:Academic Medical Centers; D004247:DNA / Q000097:blood*; D030561:Databases, Nucleic Acid / Q000941:ethics / Q000458:organization & administration*; D028744:Ethics Committees, Research; D005838:Genotype; D020408:Health Insurance Portability and Accountability Act; D006801:Humans; D016347:Medical Records Systems, Computerized / Q000458:organization & administration*; D013714:Tennessee; D014481:United States
chemical_list: D004247:DNA