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

Makhnoon S1, Shirts BH2, Bowen DJ3, Fullerton SM3.

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Abstract

PurposeLaboratory-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.MethodsWe 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.ResultsReport 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.ConclusionTest 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.GENETICS in MEDICINE advance online publication, 1 March 2018; doi:10.1038/gim.2018.23.