Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes-Practice resource of the National Society of Genetic Counselors

J Genet Couns. 2021 Apr;30(2):342-360. doi: 10.1002/jgc4.1374. Epub 2021 Jan 7.


Cancer risk assessment and genetic counseling for hereditary breast and ovarian cancer (HBOC) are a communication process to inform and prepare patients for genetic test results and the related medical management. An increasing number of healthcare providers are active in the delivery of cancer risk assessment and testing, which can have enormous benefits for enhanced patient care. However, genetics professionals remain key in the multidisciplinary care of at-risk patients and their families, given their training in facilitating patients' understanding of the role of genetics in cancer development, the potential psychological, social, and medical implications associated with cancer risk assessment and genetic testing. A collaborative partnership of non-genetics and genetics experts is the ideal approach to address the growing number of patients at risk for hereditary breast and ovarian cancer. The goal of this practice resource is to provide allied health professionals an understanding of the key components of risk assessment for HBOC as well as the use of risk models and published guidelines for medical management. We also highlight what patient types are appropriate for genetic testing, what are the most appropriate test(s) to consider, and when to refer individuals to a genetics professional. This practice resource is intended to serve as a resource for allied health professionals in determining their approach to delivering comprehensive care for families and individuals facing HBOC. The cancer risk and prevalence figures in this document are based on cisgender women and men; the risks for transgender or non-binary individuals have not been studied and therefore remain poorly understood.

Keywords: cancer risk assessment; cascade testing; family history; genetic counseling; genetic testing.

MeSH terms

  • Breast Neoplasms* / genetics
  • Counselors*
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Hereditary Breast and Ovarian Cancer Syndrome* / genetics
  • Humans
  • Male
  • Ovarian Neoplasms* / genetics
  • Risk Assessment