American BRCA Outcomes and Utilization of Testing (ABOUT) Study: A Pragmatic Research Model that Incorporates Personalized Medicine/Patient‐Centered Outcomes in a Real World Setting

Abstract

Research to date regarding identification and management of hereditary breast and ovarian cancer syndrome (HBOC) in the U.S. has been confined primarily to academic center-based studies with limited patient engagement. To begin to understand and address the current gaps and disparities in delivery of services for the appropriate identification and optimal risk management of individuals with HBOC, we designed and have initiated the American BRCA Outcomes and Utilization of Testing (ABOUT) Study. ABOUT relies on a collaborative patient advocacy, academic and industry partnership to recruit and engage U.S. individuals who are at increased risk for HBOC and investigate their experiences, decisions and outcomes. It utilizes an extensive research infrastructure, including an interactive web-based data system and electronic interfaces for secure online participation and automated data exchange. We describe the novel recruitment approach that was designed for collaboration with a national commercial health plan partner to identify all individuals for whom a healthcare provider orders a BRCA test and mail to each individual an invitation to participate and study packet. The study packet contains detailed information about the study, a baseline questionnaire and informed consent for participation in the study, for release of relevant medical and health plan records and for ongoing research engagement. This approach employs patient-reported, laboratory-reported and health plan-reported outcomes and facilitates longitudinal engagement. We believe that the type of innovative methodology and collaborative framework we have developed for ABOUT is an ideal foundation for a patient-powered research network. This approach can make substantial contributions to identifying current and best practices in HBOC, leading to improved strategies for clinical care and optimal health outcomes among individuals with high inherited risk for cancer.

Familial breast cancer: Genetic counseling over time, including patients´ expectations and initiators considering the Angelina Jolie effect

“…Several other shortcomings have been discussed in the literature, such as disparities in service delivery for the appropriate identification of individuals with HBOC, including a lack of referral protocols, indicating a need for educational interventions for both providers and patients [29, 30]. Cragun et al and others found that higher socioeconomic status, lower income and low physician referrals contribute to disparities in access to genetic services [31, 32], although we could not support the published finding in our cohort.…”

Health Care Disparities in Hereditary Ovarian Cancer: Are We Reaching the Underserved Population?

“…Multiple studies confirm that AA women are substantially less likely to undergo BRCA1/2 testing than White women [22,[29][30][31][32][33]. A case-control evaluation of women with family histories of breast or ovarian cancer at a large urban hospital showed that AA women were much less likely to receive genetic counseling than White women [29].…”

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

“…The mutation status may determine the medical management of patients, including annual screening and prophylactic surgery, and genetic testing for BRCA1 and BRCA2 is routinely performed in women with hereditary breast and ovarian cancer risk. More than 100,000 individuals in the United States undergo BRCA testing annually [ 8 ]. However, since BRCA testing is a costly procedure (the current charge for full gene sequencing is several hundred to thousands of dollars), most genetic counseling programs recommend less expensive targeted screening for specific BRCA1 and BRCA2 mutations rather than full gene testing [ 8 ].…”

“…More than 100,000 individuals in the United States undergo BRCA testing annually [ 8 ]. However, since BRCA testing is a costly procedure (the current charge for full gene sequencing is several hundred to thousands of dollars), most genetic counseling programs recommend less expensive targeted screening for specific BRCA1 and BRCA2 mutations rather than full gene testing [ 8 ].…”