Disentangling the Babylonian speech confusion in genetic counseling: An analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic

J Vos, CJ van Asperen, JT Wijnen, AM Stiggelbout, Aad Tibben

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)


Purpose: Effective communication of DNA-test results requires a sound terminology. However, the variety of terms in literature for DNA-test results other than pathogenic, may create inconsistencies between professionals, and misunderstanding in patients. Therefore, we conducted a theoretical and empirical analysis of the terms most frequently used in articles between 2002 and 2007 for BRCA 1/2-test results other than pathogenic.(1) Design: We analyzed the content validity of the no-pathogenic DNA-test result-terms by comparing the literal and intended meaning of the terms and by examining their clarity and the inclusion of all relevant information. We analyzed the reliability of the terms by measuring the strength of association between terms and their meanings and the consistency among different authors over time. Results: Two hundred twenty-seven articles with 361 no-pathogenic DNA-test result-terms were found. Only two terms seemed to have acceptable validity: variant of uncertain clinical significance and no-pathogenic-DNA-test-result. Only variant of uncertain clinical significance and true negative were found to be used reliably in the literature. Conclusions: Current DNA nomenclature lacks validity and reliability. Transparent DNA-test result terminology should be developed covering both laboratory findings and clinical meaning. Genet Med 2009:11(10): 742-749.
Original languageUndefined/Unknown
Pages (from-to)742-749
Number of pages8
JournalGenetics in Medicine
Issue number10
Publication statusPublished - 2009

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