Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system

Clin Genet. 2022 Mar;101(3):324-334. doi: 10.1111/cge.14100. Epub 2021 Dec 27.

Abstract

Investigate whether disparities and other factors influence referral to genetic counseling and testing for hereditary breast and ovarian cancer syndrome (HBOC) in a large health care system. Examination of clinical, demographic, and socioeconomic factors from electronic health records associated with genetic referral and testing within 12 months after a new cancer diagnosed between August 1, 2013 and December 31, 2018. For patients meeting institutional criteria for HBOC testing, 60.6% were referred for genetic counseling, 88% of whom underwent germline testing; at least one pathogenic variant was found in 15.3%. Referral rates for patients with breast (69%) or ovarian cancer (65.7%) were much higher than for metastatic prostate (11.1%, p < 0.0001) or pancreatic cancer (22.3%, p < 0.0001); referral criteria were implemented more recently for the latter two cancers. Younger age, family history, and chemotherapy were associated with referral. Higher Elixhauser comorbidity score and prior cancer were associated with non-referral. No other factors were associated with genetic referral for all eligible cancers combined, although differences were seen in specific cancers. Race was a significant factor only for breast cancer, with fewer Asians than Whites referred. Health disparities in referral to genetics for HBOC cancers are mitigated in a comprehensive integrated health care system.

Keywords: breast neoplasms; genetic counseling; hereditary; neoplastic syndromes; ovarian neoplasms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / epidemiology
  • Breast Neoplasms* / genetics
  • Delivery of Health Care
  • Female
  • Genetic Counseling / psychology
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Hereditary Breast and Ovarian Cancer Syndrome* / diagnosis
  • Hereditary Breast and Ovarian Cancer Syndrome* / epidemiology
  • Hereditary Breast and Ovarian Cancer Syndrome* / genetics
  • Humans
  • Male
  • Ovarian Neoplasms* / diagnosis
  • Ovarian Neoplasms* / epidemiology
  • Ovarian Neoplasms* / genetics