Refining the structure and content of clinical genomic reports

Michael O. Dorschner*, Laura M. Amendola, Brian H. Shirts, Lesli Kiedrowski, Joseph Salama, Adam S. Gordon, Stephanie M. Fullerton, Peter Tarczy-Hornoch, Peter H. Byers, Gail P. Jarvik

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)85-92
Number of pages8
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number1
StatePublished - Mar 2014


  • Clinical laboratory improvement amendments (CLIA)
  • College of american pathologists (CAP)
  • Exome sequencing
  • Incidental findings
  • Laboratory report

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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