Usefulness of Multigene Testing: Catching the Train That’s Left the Station

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This Invited Commentary outlines the benefits and challenges of multigene testing, which is rapidly becoming the norm for genetic cancer risk assessment, and emphasizes the importance of meaningful guidelines for cancer-preventive care for those with less common genetic findings.

In the mid-1990s, clinical testing for BRCA1 and BRCA2 mutations rapidly followed gene cloning. Given the lack of clinical experience with BRCA1 and BRCA2 testing, many cancer genetics experts spoke against clinical testing, advocating that testing be done in the research setting only. Increasingly, women and their physicians ignored those recommendations, and testing expanded beyond very high-risk families to include patients with only a moderate likelihood of testing positive. In this way, millions of women worldwide were tested for BRCA1 and BRCA2 mutations, leading to the accumulation of large amounts of clinical data, which have in turn confirmed the utility of BRCA1 and BRCA2 testing and, most importantly, our ability to decrease the mortality of mutation carriers through guided cancer prevention