Breaking Barriers: Integrating Germline Testing With Oncology Care

Abstract

The value of testing for pathogenic or likely pathogenic germline mutations in patients with breast cancer has been recognized for over 25 years. 1 Historically, germline testing for patients with breast cancer was performed for the purposes of screening and risk reduction management, and guidelines around germline testing in this population focused on patients with risk factors associated with hereditary breast cancers, including triple-negative/basal-like pathology, diagnosis at a younger age, personal and familial cancer history, and Ashkenazi Jewish ancestry. 2,3 Germline testing has become increasingly critical not only for family and personal risk reduction but also for direct eligibility for cancer therapeutics because of the US Food and Drug Administration (FDA) approvals of oral poly(ADP-ribose) polymerase (PARP) inhibitors for use in patients with germline BRCA1/2 (gBRCA1/2) mutations in both the early-and late-stage settings. 4 Despite this, retrospective analyses of national claims data and test order information found that most patients with breast cancer who qualify on the basis of practice guidelines do not receive germline testing. 5,6 In addition, the above claims data analyses were completed before the 2022 FDA approval of olaparib in the adjuvant setting, which expanded the patient population qualifying for germline testing because of potential systemic therapy implications. This gap in care requires oncology practices, providers, and genetic counselors to identify and implement more effective workflows to ensure that patients receive appropriate germline testing.