BRCA1 and BRCA2 genetic testing – pitfalls and recommendations for managing variants of uncertain clinical significance

open access

 Members of the Clinical Working Group of  ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) global consortium (www.enigmaconsortium.org) observed wide variation in practices in reporting, disclosure and clinical management of patients with a VUS (variants of unknown significance). Examples from current clinical practice are presented and discussed to illustrate potential pitfalls, explore factors contributing to misinterpretation, and propose approaches to improving clarity


 Results and conclusion
Clinicians, patients and their relatives would all benefit from an improved level of
genetic literacy.Genetic laboratories working with clinical geneticists need to agree on a clinically clear and uniform format for reporting BRCAtest results to non-geneticists.  An international consortium of experts, collecting and integrating all available lines of evidence and classifying variants according to an internationally recognized system will facilitate reclassification of variants for clinical use.