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After two decades of genetic testing and research, the  BRCA1  and  BRCA2  genes are two of the most well-characterized genes in the human genome. As a result, variants of uncertain significance (VUS; also called variants of unknown significance) are reported less frequently than for genes that have been less thoroughly studied. However, VUS continue to be uncovered, even for  BRCA1 / 2 . The increasing use of multi-gene panels and whole-genome and whole-exome sequencing will lead to higher rates of VUS detection because more genes are being tested, and most genomic loci have been far less intensively characterized than  BRCA1 / 2 . In this article, we draw attention to ethical and policy-related issues that will emerge. Experience garnered from  BRCA1 / 2  testing is a useful introduction to the challenges of detecting VUS in other genetic testing contexts, while features unique to  BRCA1 / 2  suggest key differences between the  BRCA  experience and the current challenges of multi-gene panels in clinical care. We propose lines of research and policy development, emphasizing the importance of pooling data into a centralized open-access database for the storage of gene variants to improve VUS interpretation. In addition, establishing ethical norms and regulated practices for sharing and curating data, analytical algorithms, interpretive frameworks and patient re-contact are important policy areas.   Electronic supplementary material  The online version of this article (doi:10.1186/s13073-014-0121-3) contains supplementary material, which is available to authorized users.

Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?