A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients

Kyle Walter Davis, Lori Hamby Erby, Katie Fiallos, Megan Martin, Edward Robert Wassman

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Purpose: To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information quality, and (c) readability. Methods: We retrospectively analyzed genomic testing reports from 2011 to 2016 provided to, or by our laboratory to aid in clinical detection and interpretation of copy number variants. Analysis was restricted to the following sections: interpretation, recommendations, limitations, and citations. Analysis included descriptive characteristics, reporting elements, reading difficulty using the Simple Measure of Gobbledygook (SMOG), and quality ratings using a subset of questions adapted from the DISCERN-Genetics questionnaire. Results: The analysis included 44 unique reports from 26 laboratories comprising four groups: specialty laboratories (SL; N = 9), reference laboratories (RL; N = 12), hospital laboratories (HL; N = 10), and university-based laboratories (UL; N = 13). There were 23 abnormal/pathogenic reports and 21 of uncertain/unknown significance. Nine laboratories did not include one or more pieces of information based on ACMG guidelines; only one of ten laboratories reported condition-specific management/treatment information when available and relevant. Average quality ratings and readability scores were not significantly different between laboratory types or result classification. Conclusions: Reporting practices for most report elements varied widely; however, readability and quality did not differ significantly between laboratory types. Management and treatment information, even for well-known conditions, are rarely included. Effectively communicating test results may be improved if certain reporting elements are incorporated. Recommendations to improve laboratory reports are provided.

Original languageEnglish (US)
Article numbere00551
JournalMolecular Genetics and Genomic Medicine
Issue number7
StatePublished - Jul 2019
Externally publishedYes


  • genetic testing
  • genomics
  • health communication
  • health literacy
  • laboratory reports
  • patient communication
  • physician–patient relations
  • provider communication
  • shared decision making

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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