An overview of genetic services delivery for hereditary breast cancer

Breast Cancer Res Treat. 2022 Feb;191(3):491-500. doi: 10.1007/s10549-021-06478-z. Epub 2022 Jan 26.


Breast cancer is the most common cancer diagnosed in women worldwide, with approximately 5-10% of cases attributed to high penetrance hereditary breast cancer (HBC) genes. The tremendous advances in precision oncology have broadened indications for germline genetic testing to guide both systemic and surgical treatment, with increasing demand for cancer genetic services. The HBC continuum of care includes (1) identification, access, and uptake of genetic counseling and testing; (2) the delivery of genetic counseling and testing services; and (3) initiation of guideline-adherent follow-up care and family communication of results. Challenges to delivering care on the HBC care continuum include factors such as access to services, cost, discrimination and bias, and lack of education and awareness, which can be mitigated through implementing a multi-level approach. This includes strategies such as increasing awareness and utilization of genetic counseling and testing, developing new methods to meet the growing demand for genetic services, and improving the uptake of follow-up care by increasing patient and provider awareness of the management recommendations.

Keywords: Genetic counselling; Genetic testing; Hereditary breast cancer; Precision oncology.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / therapy
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Services
  • Genetic Testing
  • Humans
  • Precision Medicine