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

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.

Understanding the Experience of Canadian Women Living with Ovarian Cancer through the Every Woman StudyTM

“…Respondents from the province of British Columbia or who were >50 years old at diagnosis were also more likely, and those from the province of Saskatchewan were less likely, to be offered genetic testing. The greater proportion of respondents >50 years being offered genetic testing (78% vs. 66% for <50) is contrary to previous studies reporting an increased uptake of genetic testing in younger cancer patients [32,33]; however, ours was not an unselected sampling of OC patients and therefore cannot be directly compared to these reports.…”

Casting a Wide Net While Building a Safety Net: Addressing Disparities in Genetic Testing for Hereditary Cancer

“…2 When examining disparities based on race or ethnicity, Lau-Min et al found that Black race was associated with a lower rate of genetic testing compared with White race, a gap that has been previously reported. 2,4,6 In other studies, Asian ancestry has also found to be associated with lower rates of genetic testing, 4,5 and Latinas were more likely to report that they received too much information about testing. 3 For patients who undergo genetic testing, individuals of non-European ancestry have higher rates of variants of uncertain significance (VUS).…”

The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?

“…Non-Hispanic white (NHW) patients are more likely to be recommended for genetic counseling, referred, and undergo genetic testing. 23 24 25 Despite the higher rates of CRC and increased prevalence of Lynch syndrome in African Americans, referral rates (even for those with abnormal immunohistochemistry [IHC]) and genetic testing are significantly lower compared with NHW. 26 Systemic biases may be present in existing guidelines which were developed from NHW populations.…”