Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization

Sukh Makhnoon, Brian H. Shirts, Deborah J. Bowen, Stephanie M. Fullerton

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Purpose: Laboratory-generated genomic test reports are used to convey complex, and frequently multivariant or uncertain, information about disease risk to medical genetics professionals as well as to nonspecialist clinicians, patients, and family members. However, few guidelines exist to guide the content and format of genomic test reports, and little is known about variation in current reporting practices. Methods: We conducted a structured content analysis of hereditary cancer gene panel test reports obtained from 16 United States–based CLIA-certified laboratories, including reports describing a variant of uncertain significance (VUS) only and reports with both a VUS and pathogenic or likely pathogenic (P/LP) test result. Results: Report content and format varied widely across laboratories and between VUS and VUS + P/LP reports from the same laboratory, with regard to the inclusion and visual prominence of key content as well as in terms of overall length and readability. Conclusion: Test report heterogeneity is likely to reflect both the lack of comprehensive reporting guidelines and disagreements between laboratories about the salience of specific types of information to test interpretation and use. Future research should explore the impact of reporting differences on clinician interpretation and shared decision making.

Original languageEnglish (US)
Pages (from-to)1438-1445
Number of pages8
JournalGenetics in Medicine
Issue number11
StatePublished - Nov 1 2018
Externally publishedYes


  • VUS
  • content
  • format
  • gene panel test
  • genomic laboratory report

ASJC Scopus subject areas

  • Genetics(clinical)


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