Update on multi-gene panel testing and communication of genetic test results

Breast J. 2020 Aug;26(8):1513-1519. doi: 10.1111/tbj.13971. Epub 2020 Jul 8.


With technological advances, multi-gene panel testing has become increasingly used to identify patients at risk for hereditary breast cancer (HBC). There are currently evidence-based interventions and breast cancer screening strategies that exist for cancer prevention and early detection among patients with HBC. Moreover, in addition to the personal impact of identifying HBC, this information may be shared with at-risk family members to amplify the benefits of testing and subsequent care among those at high risk. Opportunities and challenges with the utilization of updated multi-gene panel testing for HBC, including: (a) tumor sequencing with germline consequences; (b) genetic counseling implications; and (c) strategies to improve the communication of genetic test results to family members will be reviewed. With the advances and expansion of genetic testing, all health care providers need to be updated on both the importance and complexities of HBC counseling and testing, in order to optimize patient care.

Keywords: BRCA; hereditary breast cancer; multi-gene panel; next-generation sequencing; tumor-based testing.

MeSH terms

  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Communication
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans