Refining the structure and content of clinical genomic reports

Authors

  • Michael O. Dorschner,

    Search for more papers by this author
    • Michael Dorschner is Research Assistant Professor of Psychiatry & Behavioral Sciences and Pathology at the University of Washington. He is a clinical molecular geneticist with interests in the application of genomics to molecular diagnosis and the genetic basis of neurodegenerative disorders.
  • Laura M. Amendola,

    Search for more papers by this author
    • Laura Amendola is a genetic counselor at the University of Washington Medical Center. She provides genetic counseling to patients referred to the adult Genetic Medicine clinic for a variety of conditions, and coordinates research on the incorporation of whole exome sequencing into clinical genetics.
  • Brian H. Shirts,

    Search for more papers by this author
    • Brian Shirts is Assistant Professor of Laboratory Medicine at the University of Washington. His research focuses on the informatics involved in communicating complex genetic information to clinicians and patients.
  • Lesli Kiedrowski,

    Search for more papers by this author
    • Lesli Kiedrowski is a clinical genetic counselor. Her research interests include the application of genomic technologies to clinical cancer and hereditary cancer gene discovery.
  • Joseph Salama,

    Search for more papers by this author
    • Joseph Salama is a research coordinator with an interest in health service research, particularly focused on how clinicians access and utilize electronic health records in patient care.
  • Adam S. Gordon,

    Search for more papers by this author
    • Adam Gordon is a graduate student in Genome Sciences at the University of Washington. His research focuses on developing high-throughput sequencing tools for clinical pharmacogenetic implementation and discovery.
  • Stephanie M. Fullerton,

    Search for more papers by this author
    • Stephanie M. Fullerton is Associate Professor of Bioethics & Humanities at the UW School of Medicine. Her research focuses on the ethical and social implications of genetic and genomic testing, including clinician, researcher and patient/participant perspectives on informed consent, result return, and data sharing.
  • Peter Tarczy-Hornoch,

    Search for more papers by this author
    • Peter Tarczy-Hornoch is Chair and Professor of the Department of Biomedical Informatics and Medical Education at the University of Washington. He is a neonatologist with research interests focused on foundational and applied research in the context of biomedical informatics support for translational and clinical research.
  • Peter H. Byers,

    Search for more papers by this author
    • Peter H. Byers is Professor of Pathology and Medicine at the University of Washington. He is an internist and clinical medical geneticist with research interests aimed at understanding the molecular pathogenesis of inherited connective tissue disorders.
  • Gail P. Jarvik

    Search for more papers by this author
    • Gail Jarvik is the Arno G. Motulsky Chair and Head of the UW Medicine Division of Medical Genetics. She is an internist and clinical medical geneticist whose research interests include the genetic basis of common diseases and genomic medicine implementation.

  • Conflict of interest: none.
  • * Correspondence to: Michael O. Dorschner, 1959 NE Pacific Street Box 356560 Seattle, WA 98195-6560. E-mail: mod@uw.edu

Abstract

To effectively articulate the results of exome and genome sequencing we refined the structure and content of molecular test reports. To communicate results of a randomized control trial aimed at the evaluation of exome sequencing for clinical medicine, we developed a structured narrative report. With feedback from genetics and non-genetics professionals, we developed separate indication-specific and incidental findings reports. Standard test report elements were supplemented with research study-specific language, which highlighted the limitations of exome sequencing and provided detailed, structured results, and interpretations. The report format we developed to communicate research results can easily be transformed for clinical use by removal of research-specific statements and disclaimers. The development of clinical reports for exome sequencing has shown that accurate and open communication between the clinician and laboratory is ideally an ongoing process to address the increasing complexity of molecular genetic testing. © 2014 Wiley Periodicals, Inc.

Ancillary