Refining the structure and content of clinical genomic reports

Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):85-92. doi: 10.1002/ajmg.c.31395. Epub 2014 Mar 10.


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.

Keywords: Clinical Laboratory Improvement Amendments (CLIA); College of American Pathologists (CAP); exome sequencing; incidental findings; laboratory report.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Exome / genetics*
  • Genetics, Medical / methods*
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Practice Patterns, Physicians'*
  • Randomized Controlled Trials as Topic / methods
  • Research Report*