title: Using electronic health records to drive discovery in disease genomics.
abstract: If genomic studies are to be a clinically relevant and timely reflection of the relationship between genetics and health status--whether for common or rare variants--cost-effective ways must be found to measure both the genetic variation and the phenotypic characteristics of large populations, including the comprehensive and up-to-date record of their medical treatment. The adoption of electronic health records, used by clinicians to document clinical care, is becoming widespread and recent studies demonstrate that they can be effectively employed for genetic studies using the informational and biological 'by-products' of health-care delivery while maintaining patient privacy.
authors.affiliation: Harvard Medical School, 10 Shattuck Street, Boston, Massachusetts 02115, USA. isaac_kohane@harvard.edu
authors.forename: Isaac S
authors.initials: IS
authors.lastname: Kohane
mesh_terms: D000483:Alleles; D003625:Data Collection; D057286:Electronic Health Records; D005006:Ethnicity; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D014644:Genetic Variation; D005826:Genetics, Medical / Q000379:methods*; D016678:Genome; D023281:Genomics; D006801:Humans; D007258:Informed Consent; D016347:Medical Records Systems, Computerized; D008957:Models, Genetic; D010641:Phenotype; D012107:Research Design