Genetic Testing For Breast Cancer Research Articles

The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review.

A 73-year-old Japanese man with a history of distal biliary cancer treated by pancreatoduodenectomy developed pancreatic acinar cell carcinoma (PACC) treated by remnant pancreatectomy and adjuvant chemotherapy. Thirteen months after surgery, multiple liver metastases developed and FOLFOX chemotherapy was initiated. Based on the PACC diagnosis and a positive family history for breast and ovarian cancer genetic testing was performed which revealed a pathogenic germline BRCA2 variant (c.8629G > T, p.Glu2877Ter). Olaparib therapy was initiated and the metastases responded well (partial response). PACC is a BRCA2-associated cancer which may respond well to PARP inhibitors.

Abstract PO3-08-06: Challenges in Implementing Genetic Counseling and Genetic Testing for Breast Cancer: Insights from the First 1000 Families Assessed in a Public University Hospital in Argentina

Abstract Introduction: Integrating genetic testing into breast cancer patients care is crucial for personalized treatment recommendations, risk reduction strategies, and family members evaluation. However, Argentina faces several concerns in implementing these services. Objective: This study aims to explore the challenges encountered in implementing genetic testing for breast cancer, drawing insights from the assessment of the first 1000 patients at a public university hospital in Argentina. Methods: We conducted a retrospective analysis of patients who underwent genetic counseling in our institution from January 2015 to June 2023. We also analyzed patients who underwent surgery from June 2022 to May 2023. Results: 1032 patients were evaluated in our unit. 836 patients (81%) met the National Comprehensive Cancer Network (NCCN) criteria for genetic testing. Genetic testing was requested for 575 patients (68.7%) Only 44% of patients were able to access the test, with 60% receiving only the BRCA1/2 test (see Table 1 and 2 for details). In the analysis of breast cancer surgeries (n=246), 62% (n=154) met the NCCN criteria for genetic testing. However, only 56% of these patients underwent genetic counseling prior to their surgery and only 15 (9.86%) received their results before primary treatment. Discussion Unfortunately, only 9.8% of patients have the results of genetic testing prior to their primary treatment, indicating a critical need for timely referrals and mainstream genetic testing. To counteract, our university hospital's breast cancer unit has taken proactive measures since January 2015. Genetic counseling has been established as a standard of care for all patients, and a streamlined workflow has been implemented to optimize referrals. Trained professionals, including a genetic counselor, psycho-oncologist, and geneticist, have been integrated into core teams. Additionally, healthcare professional continued education has played a pivotal role in improving referrals. Additionally, we have introduced an easy workflow to optimize referrals to genetic counseling. Completion rate of requested genetic tests is concerning, with 56% of tests not being completed, and 60% of the completed tests limited to BRCA1/2. Improving access to genetic testing is imperative. Currently, comprehensive genetic testing is inaccessible to patients without medical coverage, and even those with coverage face difficulties in testing access. Moreover, patient education plays a vital role in promoting the importance of genetic testing and its impact on patient care and their families. In collaboration with the Argentinean Breast Pathology Society, we have developed two informative videos that reinforce knowledge provided by primary care physicians and breast surgeons. Conclusion, Our study is the first in Argentina to analyze the numerous challenges faced in conducting genetic testing for breast cancer in a public hospital. By addressing these challenges collectively, we can facilitate the effective integration of genetic counseling and testing into routine practice for breast cancer patients in Argentina. Table 1: Breast Cancer Genetic Counseling Unit Patients (2015-2023) Table 2: Breast Cancer Genetic Counseling Unit Patients studies (2015-2023) Citation Format: Dolores Mansilla, Diana Bequelman, Jorgelina Cavallero, Hernan Ursino, Berman Gaston, Ipiña Martin, Eduardo Armanasco, Andrea Aguilar, Valeria Caceres, Eugenia Azar. Challenges in Implementing Genetic Counseling and Genetic Testing for Breast Cancer: Insights from the First 1000 Families Assessed in a Public University Hospital in Argentina [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO3-08-06.

Abstract PO1-08-04: Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making

Abstract Background: Prior work from our group has shown a high rate of familial breast cancer (BC) among rural BC patients (pts), with 33% reporting > 1 first-degree family members with BC and 55% meeting NCCN germline genetic testing (GGT) criteria (Shelton CH et al. NC Med. J; 2022). In 2018, we increased GGT to include all BC pts and observed: 1) many pts were out-of-criteria per NCCN guidelines but had actionable pathogenic germline variants (PGVs) and 2) knowledge of GGT factored significantly into shared decision making by providers and patients, including for positive and negative results. Beginning in 2019, concurrent with the recommendation from the American Society of Breast Surgeons, we expanded this model of universal GGT to an IRB-approved study to measure the impact of prospective testing on shared decision-making. Herein we report the real-world implementation of universal GGT for patients with BC and genetics-informed treatment decision-making in a rural community practice. Methods: From 2019-2022 all BC pts at a small, rural community hospital were offered GGT. Demographics, clinical features, and GGT results were collected along with clinician-reported clinical recommendations for treatment based on GGT results. Descriptive statistics and two-tailed Fisher’s exact test were employed and significance was set at p< 0.05. Results: 210 BC pts were offered GGT and 192 (91%) underwent testing [97% female, 95% non-Hispanic White, mean age at diagnosis of 62, 75% Stage I], with all but 7 pts completing GGT before primary treatment decisions. 104 (54%) of patients were in-criteria (IC) and 88 (46%) out-of-criteria (OOC) with NCCN GGT guidelines. PGVs were identified in 25 pts (13%) and 15 genes, most commonly BRCA1/2 (5 pts), PALB2 (3), monoallelic MUTYH (3) and ATM, BARD1, CHEK2 (2 pts each). PGV frequencies were 15% in IC and 11% in OOC patients (p=0.495). 46 (24%) pts had only a variant of uncertain significance (VUS) results. 70% of patients had > 1 clinical management change based on their GGT results. Changes in breast surgery, uptake of risk-reducing bilateral salpingo-oophorectomy, surveillance and clinical follow-up were significantly higher in patients with PGV compared to those with VUS/negative results (p < 0.0001). Compared to those with negative results, patients with PGVs in BRCA1 and BRCA2 were significantly more likely to undergo bilateral mastectomy (BLM) while those with PGVs in other genes or with VUS were not significantly more likely to elect for BLM than those with negative results. Clinicians reported that return of GGT reinforced their recommendation for 73/138 (53%) of patients who underwent breast-conserving therapy. GGT results aided in radiation therapy strategy for 54% of pts, most often resulting in dose de-escalation (accelerated fractionation) for negative/VUS pts (Table). Conclusions: Universal GGT for patients with BC was successfully implemented in a rural community practice with >90% uptake. Treatment was enhanced in those with clinically actionable PGVs and de-escalated in those without PGVs. Universal GGT for patients with BC is feasible to implement as the standard of practice within rural populations, enabling optimization of clinical care to patients’ genetic profile and may reduce unnecessary healthcare resource utilization. Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making Changes in Radiation Therapy Strategy based on GGT Citation Format: Charles Shelton, Sarah Nielsen, Antonio Ruiz, Lauren Shelton, Karen Freas, Sarah Poll, Brandie Heald, Daniel Pineda-Alvarez, Edward Esplin, Rachel Ellsworth, Hannah Montgomery. Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO1-08-04.

Abstract PO3-07-11: Concordance between abbreviated and complete magnetic resonance protocols for screening woman at moderate and high risk for breast cancer

Abstract Introduction: Patients at high risk for developing breast cancer are potential beneficiaries of personalized screening strategies. Breast magnetic resonance imaging (MRI) has shown high sensitivity, but its broader use remains constrained by issues such as high cost and long examination time. The abbreviated magnetic resonance protocol is presented as an alternative to overcome these challenges. Our primary outcome was to evaluate the concordance of the final report between full and abbreviated protocols. Secondary outcomes included the acquisition and reading time of images from the abbreviated protocol. Methods: A cross-sectional study was conducted on asymptomatic women at moderate and high risk for breast cancer who underwent the full MRI screening protocol in private health institutions in the city of Belo Horizonte, Brazil. The abbreviated protocol was derived from the full protocol by the computer through selection of specific sequences. Each image was independently blind read, and assigned a category from the Breast Imaging - Reporting and Data System (BI-RADS) by at least two examiners. The results were then compared using the Cohen's kappa and Intraclass Correlation Coefficients. Results: The study included 170 women, and a concordance rate of 96,9% was found for the reported BI-RADS category between protocols in this population. A 21-minute reduction was observed in examination time for the abbreviated protocol. Conclusion: The significant concordance between protocols indicates that despite the reduction in acquisition time, number of acquired images, and method's complexity, the abbreviated MRI protocol meets most screening demands. It is, therefore, a viable alternative for cost reduction and improving patients tolerability for the studied population. Table 1. Clinical characteristics of the study population Absolute and percentage data about age, personal risk for breast cancer, family history, and previous genetic testing in the study population. Table 2. Concordance analysis between abbreviated and complete MRI protocols based on the ACR-BIRADS classification - Coen Kappa and Intraclass Correlation Coefficient The Kappa value of 0.9687 (95% CI 0.9426 - 0.9949, p < 0.01) indicates almost perfect concordance between the two protocols. The intraclass correlation coefficient of 0.982 (95% CI 0.97 - 0.987, p < 0.01), also indicates excellent concordance using the two-way random effect models criteria. Citation Format: Mariana Mitraud Ottoni Guedes, Agnaldo Lopes da Silva Filho, Thais Paiva Moraes, Adriene Moraes Campos, Ivie Braga de Paula, Felipe Marcondes de Oliveira Coelho, Barbara Silveira Santana, Bertha Andrade Coelho, Maria Fernanda Sperotto Valadares Gontijo, Leticia Martins De Araujo Campos Linhares, Anna Dias Salvador, Waldeir José de Almeida Junior, José Tadeu Campos de Avelar. Concordance between abbreviated and complete magnetic resonance protocols for screening woman at moderate and high risk for breast cancer [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO3-07-11.

Treatment-Focused Rapid Genetic Testing in Breast Cancer

Treatment-Focused Rapid Genetic Testing in Breast Cancer

The Impact of Breast Cancer Awareness Campaigns on Women's Knowledge, Attitudes, and Practices in Uganda's Kampala District

In Uganda, breast cancer affects 116 out of every 100,000 women. Worldwide, the yearly incidence rate of breast cancer (BRCA) is more than 1 million cases and more than 411,000 deaths. In underdeveloped nations, the survival rate is less than 50%, while in industrialized nations, it is 90%. Studies have shown that this is caused by delayed diagnosis and identification of breast cancer (BRCA), as well as by inadequate understanding, attitudes, and practices about BRCA, its causes, risk factors, and screening methods. Since the success of these campaigns to raise awareness, alter negative attitudes toward BRCA prevention and treatment, and improve the use of screening methods is highly dependent on their influence, the MTN Foundation, National Breast Cancer Coalition, Breast Cancer Action, and Miss University Uganda campaigners have resorted to aggressive awareness and sensitization programs aimed at increasing knowledge, changing attitudes, and improving the practice of all necessary screening procedures. To determine the degree of awareness and exposure, knowledge level, attitude, and screening practice among women in Kampala District, a survey and in-person interviews were employed. The causes of unhealthy habits and their effects were explained by the Health Believe Model and the Attitude Change Theory. The results showed a cursory understanding of BRCA symptoms, causes, genetic testing, BSE, and CBE. Strongly negative emotional and psychological beliefs also impact that attitude. As a result, the study stressed the need of preventive rather than curative methods and acknowledged the contribution of breast cancer campaigns to the cause. Keywords: Breast cancer, Campaigns, Self-examination, Risk factors.

Assessing equity in Medicare-funded breast cancer genetic testing

Assessing equity in Medicare-funded breast cancer genetic testing

Abstract A067: Perceptions and experiences of Black women on hereditary breast and ovarian cancer genetic testing

Abstract Black women experience significant disparities in morbidity and mortality related to hereditary breast and ovarian cancer (HBOC). Early identification of women with HBOC is essential for proactive screening and timely diagnosis but evidence suggests that Black women receive genetic testing for HBOC at lower rates than their White counterparts. To understand Black women’s perspectives on HBOC genetic testing and potential factors influencing this decision, we conducted in-depth qualitative interviews with 107 Black women with a personal or family history of breast or ovarian cancer. Participants were recruited via the networks of patient support organizations and sororities as well as at a family medicine safety net clinic in Jacksonville, FL. Participants frequently expressed a lack of awareness about their family cancer history; many cancer patients stated that they only became aware of extensive family history upon their own diagnosis. Lack of family history sharing was attributed to a culture of silence around medical issues and a desire to protect family members from difficult information. However, most participants indicated a strong desire to understand their own risk of HBOC and were interested in genetic testing. Participants with a personal diagnosis were motivated to undergo HBOC genetic testing to reduce the risk for future generations. Clinical experiences with the offer of HBOC genetic testing were variable, with a few expressing that they had to make repeated inquiries from a provider to understand the relevance of the test to their own health. These findings suggest that investigation into alternative clinical modalities to collect family health history may be beneficial to identify Black women who meet NCCN Guidelines for HBOC testing. In contrast to the literature suggesting hesitancy for HBOC genetic testing, many participants  perceived genetic results as having a positive impact for their medical decision-making and family's health. The development of patient materials and provider education on cultural and social factors that influence the uptake of HBOC genetic testing is also needed.  Citation Format: Kirsten A. Riggan, Michele Halyard, Sarah E. James, Marion Kelly, Daphne Phillips, Megan A. Allyse. Perceptions and experiences of Black women on hereditary breast and ovarian cancer genetic testing [abstract]. In: Proceedings of the 16th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2023 Sep 29-Oct 2;Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(12 Suppl):Abstract nr A067.

Genetic Testing Enhances the Precision Diagnosis and Treatment of Breast Cancer

The contemporary comprehension of breast cancer has progressed to the molecular level. As a heterogeneous malignancy, conventional pathological diagnosis and histological classification could no longer meet the needs of precisely managing breast cancer. Genetic testing based on gene expression profiles and gene mutations has emerged and substantially contributed to the precise diagnosis and treatment of breast cancer. Multigene assays (MGAs) are explored for early-stage breast cancer patients, aiding the selection of adjuvant therapy and predicting prognosis. For metastatic breast cancer patients, testing specific genes indicates potentially effective antitumor agents. In this review, genetic testing in early-stage and metastatic breast cancer is summarized, as well as the advantages and challenges of genetic testing in breast cancer.

ASO Visual Abstract: Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making.

ASO Visual Abstract: Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making.

Protocol to evaluate sequential electronic health record-based strategies to increase genetic testing for breast and ovarian cancer risk across diverse patient populations in gynecology practices

BackgroundGermline genetic testing is recommended by the National Comprehensive Cancer Network (NCCN) for individuals including, but not limited to, those with a personal history of ovarian cancer, young-onset (< 50 years) breast cancer, and a family history of ovarian cancer or male breast cancer. Genetic testing is underused overall, and rates are consistently lower among Black and Hispanic populations. Behavioral economics-informed implementation strategies, or nudges, directed towards patients and clinicians may increase the use of this evidence-based clinical practice.MethodsPatients meeting eligibility for germline genetic testing for breast and ovarian cancer will be identified using electronic phenotyping algorithms. A pragmatic cohort study will test three sequential strategies to promote genetic testing, two directed at patients and one directed at clinicians, deployed in the electronic health record (EHR) for patients in OB-GYN clinics across a diverse academic medical center. We will use rapid cycle approaches informed by relevant clinician and patient experiences, health equity, and behavioral economics to optimize and de-risk our strategies and methods before trial initiation. Step 1 will send patients messages through the health system patient portal. For non-responders, step 2 will reach out to patients via text message. For non-responders, Step 3 will contact patients’ clinicians using a novel “pend and send” tool in the EHR. The primary implementation outcome is engagement with germline genetic testing for breast and ovarian cancer predisposition, defined as a scheduled genetic counseling appointment. Patient data collected through the EHR (e.g., race/ethnicity, geocoded address) will be examined as moderators of the impact of the strategies.DiscussionThis study will be one of the first to sequentially examine the effects of patient- and clinician-directed strategies informed by behavioral economics on engagement with breast and ovarian cancer genetic testing. The pragmatic and sequential design will facilitate a large and diverse patient sample, allow for the assessment of incremental gains from different implementation strategies, and permit the assessment of moderators of strategy effectiveness. The findings may help determine the impact of low-cost, highly transportable implementation strategies that can be integrated into healthcare systems to improve the use of genomic medicine.Trial registrationClinicalTrials.gov. NCT05721326. Registered February 10, 2023. https://www.clinicaltrials.gov/study/NCT05721326

Perioperative genetic testing and time to surgery in patients with breast cancer

BackgroundTime to treatment has been identified as a quality metric, with longer time to treatment associated with poorer outcomes. Genetic evaluation is an integral part of treatment counseling for patients with breast cancer. With expanding indications for genetic testing and consideration of expansion of genetic testing to all patients with a personal history of breast cancer, this study aims to evaluate the effect of genetic evaluation on the time interval from initial surgical visit to surgery. MethodsA retrospective review of patients undergoing upfront surgery for stage 0–3 breast cancer from June 2022 to December 2022. Patient demographics, treatment characteristics, National Comprehensive Cancer Network criteria for genetic testing, and results were obtained. ResultsThe study included 492 patients (489 females). Eighty-one (16.2%) were ≤50 years of age at diagnosis. In total, 281 patients (57.1%) met National Comprehensive Cancer Network criteria for genetic testing and 199 consulted with a genetic counselor (72.4%). Seventy-six patients (27.6%) not meeting National Comprehensive Cancer Network criteria pursued genetic counseling. In total, 218 patients (79.3%) referred for genetic counseling completed testing. Mean turnaround time to genetic testing result was 11 days (range, 6-66 days). Twenty-six patients (11.9%) had a pathogenic or likely pathogenic variant. Twenty-four of these patients met National Comprehensive Cancer Network testing criteria (92.3%) and 2 did not (7.7%). The time to treatment for patients undergoing genetic testing was 33 vs 34 days in those without testing (P = .45). Three patients (11.5%) with pathogenic or likely pathogenic variants altered their initial surgical plan due to their genetic testing results. Seven patients with pathogenic or likely pathogenic variant results returning postoperatively did not undergo additional surgery. ConclusionHereditary breast cancer evaluation and genetic testing did not appear to delay time to treatment for patients with breast cancer in our study cohort.

[The trend of accurate pathology diagnosis of breast cancer].

Accurate pathology diagnosis of breast cancer is the premise of personalized treatment. In recent years, the pathology diagnosis of breast cancer have been updated and optimized to provide better guidance and basis for clinical treatment. In this paper, we provide an overview on the advances in histological classification of breast cancer, the progress of biomarker detection related to novel antibody-drug conjugates and immunotherapy in breast cancer, the pathology evaluation of breast cancer specimen after neoadjuvant therapy and sentinel lymph nodes, the progress of genetic testing in breast cancer, and the application of artificial intelligence in breast pathology.

How do women talk about self-funded breast cancer genetic testing?: Small stories and stance-taking strategies.

Genetic testing for breast cancer genes is an experience which is inextricably linked with health communication practices and the broader social context in which it occurs. Linguistic approaches can provide perspective on how women seeking self-funded BRCA1/2 gene testing represent their experiences, knowledge, roles, choices and emotions through the way they talk. A discursive constructionist epistemology and narrative theoretical framework informed the applied linguistics methodology. Analysis of 'small stories' and stance-taking was performed on eight transcripts of audio-recorded telephone interviews with women at low to moderate risk of carrying BRCA1/2 pathogenic variants who self-funded genetic testing. We found a high prevalence of 'small stories' including accounts of events, hypotheticals, habitual narratives, and stories which combined multiple genres. Stance-taking was a means by which participants constructed personal identities in the conversational context, such as that of a responsible person. Via stance-taking strategies, participants also actively negotiated the conversational agenda, for example expressing different degrees of alignment with the interviewer's orientation towards emotions. This study provides a basis for recognizing linguistic markers in genetic counseling interactions about genetic testing for breast cancer genes. Enhanced awareness of client language choice, and the ways in which small stories and stance can signify the client's evaluation of experience and choices, alignment with the genetic counselor's questions/statements, and investment in the conversation, has potential to improve the therapeutic interaction.

Women with pathogenic variants in moderate penetrance breast cancer genes: How frequently do they meet high penetrance genetic testing criteria?

10584 Background: 5-10% of breast cancers are associated with germline pathogenic variants in breast cancer predisposition genes. 2-5% of these variants are in moderate penetrance (MP) genes, conferring a relative risk to develop breast cancer of 2-5. Various personal history (PH) and family history (FH)-based criteria for testing high penetrance genes, such as BRCA1 and BRCA2, have been proposed, but it is unknown to what extent women with pathogenic variants in MP genes may meet such criteria. We evaluated PH and FH of cancer among women with pathogenic variants in MP genes in a diverse and unselected patient cohort in New York City to determine how often they met well-established genetic testing criteria from the National Comprehensive Cancer Network (NCCN). Methods: Exome sequence data from ~16,000 female Bio Me Biobank participants were evaluated for expected pathogenic (per ClinVar, or predicted loss-of-function) variants in ATM, BARD1, BRIP1, CHEK2, NF1, PALB2, RAD51C, and RAD51D. We extracted demographic information, PH and FH of breast, ovarian, and/or pancreatic cancer, and PH and FH of genetic testing from participant questionnaires and electronic medical record review. We then determined which participants met current NCCN criteria (version 1.2023) for high penetrance breast, ovarian, and pancreatic cancer genetic testing. Results: We identified 252 women with expected pathogenic variants in MP genes: 105 CHEK2, 58 ATM, 35 BRIP1, 24 PALB2, 9 BARD1, 8 NF1, 8 RAD51D, and 5 RAD51C. 30% met NCCN criteria, including 30% of those with CHEK2 variants, 36% ATM, 14% BRIP1, 33% PALB2, and 30% with variants in BARD1, NF1, RAD51D, or RAD51C. 36% of those who met NCCN criteria had previously undergone clinical genetic testing. 29 of 33 (88%) women with a PH of breast cancer and 52 of 81 (64%) women with a FH of breast cancer met criteria. Conclusions: Current genetic testing criteria focus on identifying individuals harboring pathogenic variants in high penetrance cancer genes. However, in our study, a substantial portion of women with a pathogenic variant in a MP breast cancer gene also met such criteria, particularly when PH or FH of breast cancer were present. Only a third of those who met NCCN criteria had undergone clinical genetic testing. These findings suggest that the majority of women with genetic risk for breast cancer may be missed in clinical practice. Studies have shown that most physicians would change management strategies for patients with pathogenic variants, including variants in MP genes. As our understanding of genetic risk for breast cancer continues to evolve, we must explore strategies to improve identification and management of individuals with variants in MP breast cancer genes.

Improving Rates of Germline BRCA Mutation Testing for Patients With Ovarian Cancer in Vancouver Island, British Columbia, Canada.

Despite more than a decade of endorsement from multiple international cancer authorities advocating all women with ovarian cancer be offered germline breast cancer (BRCA) gene testing, British Columbia Cancer Victoria was not meeting this target. A quality improvement project was undertaken with the aim of increasing completed BRCA testing rates for all eligible patients seen at British Columbia Cancer Victoria to > 90% by 1 year from April 2016. A current state analysis was completed, and multiple change ideas were developed, including education of medical oncologists, referral process update, initiating a group consenting seminar, and engagement of a nurse practitioner to lead the seminar. We used a retrospective chart audit from December 2014 to February 2018. On April 15, 2016, we initiated our Plan, Do, Study, Act (PDSA) cycles and completed them on February 28, 2018. We evaluated sustainability through an additional retrospective chart audit from January 2021 to August 2021. Patients with completed germline BRCA genetic testing climbed from an average of 58%-89% per month. Before our project, patients waited on average 243 days (± 214) for their genetic test results. After implementation, patients received results within 118 days (± 98). This was sustained with an average of 83% of patients per month having completed germline BRCA testing almost 3 years after project completion. Our quality improvement initiative resulted in a sustained increase in germline BRCA test completion for eligible patients with ovarian cancer.

Abstract P6-02-03: Breast Health Assessment: A family health history tool using the electronic health record and clinical decision support to facilitate guidelines-driven hereditary breast cancer genetic testing at the time of screening mammogram

Abstract Background: Genetic testing (GT) is recommended for women who have a personal or family history of breast cancer and are at increased risk of carrying an inherited breast cancer risk gene pathogenic variant (PV) as defined by the National Comprehensive Cancer Network (NCCN) guidelines. Data shows that traditional GT workflows do not reach a large proportion of women eligible for GT. NorthShore University HealthSystem previously implemented the Genetic Wellness Assessment, a family health history (FHH) screening tool utilizing the electronic health record (EHR) and clinical decision support, to identify individual and familial risks to health conditions and personalize screening and prevention practices in primary care. To increase access to hereditary breast cancer GT, we implemented a similar FHH screening tool called the Breast Health Assessment (BHA) for patients completing routine screening mammogram. We describe uptake and results from implementation of the BHA in conjunction with routine screening mammogram. Methods: Patients scheduled for screening mammogram were assigned the BHA prior to their mammogram via the EHR portal. BHA questions addressed personal and family history of breast cancer and other cancer types associated with hereditary breast cancer syndromes. Upon completion of the BHA, patients who screened positive, i.e. identified as having a high-risk personal or family cancer history based on NCCN guidelines, were offered a comprehensive hereditary cancer panel (HCP). HCP included 38 genes associated with common cancer types, including all high and moderate risk breast cancer genes for which there are NCCN management guidelines. Individuals who were not identified as high-risk were offered a genetic health screen, which consisted of 148 genes associated with common cancer types, genetic forms of heart disease, medication response, and other health conditions. Saliva sample collection for GT occurred at the time of the patient’s screening mammogram appointment. Results: From August 2021 through May 2022, 32,438 patients were assigned the BHA prior to screening mammogram. Of these patients, 14,128/32,438 (44%) completed the BHA questionnaire. Based on BHA reponse, 3,490/14,128 (25%) screened positive and met NCCN criteria for GT for hereditary breast cancer risk genes and 529/3,490 (15%) completed GT. Additionally, 713/10,638 (7%) patients who screened negative on the BHA completed testing. In total, 1,242/14,128 patients (9%) completed GT and 78/1,242 (6%) were found to carry an inherited PV in a cancer risk gene, 35 of which were in an NCCN guidelines breast cancer risk gene. Of the 78 patients with a positive GT result, 57/78 (73%) had not been previously recommended for a genetics evaluation and/or received a genetics referral. Conclusion: The BHA is a novel FHH tool which increases access to hereditary breast cancer GT at the time of screening mammogram. Nearly half of women who completed screening mammogram completed the BHA and learned valuable information about their breast cancer risk and were invited to complete GT. Genetic testing completed through the BHA identified 78 patients with an actionable inherited PV in a cancer risk gene. This invaluable information will lead to potentially lifesaving personalized cancer screening and risk reduction and help identify additional at risk family members. Notably, 73% of patients who carried an inherited PV had not been previously recommended by their medical teams for genetic counseling and/or testing. The BHA has the potential to help close the care gap in GT for women at increased risk of breast cancer. Citation Format: Allison DePersia, Sarah Choi, Katharine Yao, Henry Dunnenberger, Peter Hulick. Breast Health Assessment: A family health history tool using the electronic health record and clinical decision support to facilitate guidelines-driven hereditary breast cancer genetic testing at the time of screening mammogram [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P6-02-03.

Does mainstream BRCA testing affect surgical decision-making in newly-diagnosed breast cancer patients?

BackgroundGermline pathogenic variants mutations) in the BRCA1 and BRCA2 genes cause an increased risk of breast cancer and ovarian cancer. Mainstream cancer genetic testing (MCG) was introduced for breast cancer patients in our unit in 2013. Non-geneticist clinicians have been trained to offer genetic testing during initial treatment planning. We assessed the impact of timely test results on surgical decision-making. MethodsWomen who had undergone mainstream genetic testing for breast cancer between September 2013 and September 2018 were identified from a prospective database. Surgical data were collected retrospectively. Results580 eligible women had mainstream genetic testing. For 474 this was their first breast cancer diagnosis. The median age was 46 years (interquartile range (IQR) 38–57). The indications were: age ≤45 years for 233 (49%); triple negative disease for 192 women (40.5%); bilateral breast cancer age <60 for 39 (8%) and other for 72 (14%) women. The median time for test initiation to result was 18 days (IQR 15-21). 302 (64% received results before surgery. 88% of those found to have a BRCA mutation before surgery opted for bilateral mastectomy (compared to 5% with BRCA wild type). An additional 106 patients had a new diagnosis on a background of previous treatment. Of these all with a pathogenic variant chose bilateral mastectomy. ConclusionTimely BRCA gene testing influences surgeons’ and patients’ choice of surgery. It reassures women with a negative result and allows those with a positive result to take an active decision about the management of their future risk.

Germline Genetic Testing in Breast Cancer: Systemic Therapy Implications.

In this article, we discuss recent advances in germline genetic testing for patients with breast cancer and highlight current limitations and impacts on clinical care. We also provide an update on the therapeutic implications of having a germline mutation, including targeted systemic therapy options for treating early and metastatic breast cancer. Approximately 5 to 10% of women diagnosed with breast cancer have a pathogenic variant in a hereditary cancer susceptibility gene, which has significant implications for managing these patients. Previously, testing was done mainly to inform screening and risk-reduction treatment; however, more recently, germline genetic results have significant systemic therapy implications that can meaningfully improve outcomes in breast cancer patients, especially with oral poly-ADP-ribose polymerase (PARP) inhibitors. These systemic therapy advances implore a shift in paradigm for whom to test moving forward and how to modify the existing testing models to meet the increasing demand for germline testing, which is expected to grow exponentially.

Provider discussion of genetic counseling among high-risk Spanish-preferring Latina breast cancer survivors.

Among high-risk breast cancer (BC) survivors, genetic counseling (GC) and genetic testing (GT) may inform cascade testing and risk management. Compared to non-Hispanic White BC survivors, Spanish-preferring Latina BC survivors are less likely to report discussing GC with a healthcare provider. However, few studies have examined Latinas' experiences with GC/GT, particularly outside of the mainland USA. This study aimed to compare frequency of provider discussion of GC between Spanish-preferring Latina BC survivors living in Florida (FL) and Puerto Rico (PR). We conducted secondary data analysis of baseline assessments from a randomized pilot of an educational intervention for Spanish-preferring Latina BC survivors. Participants (N = 52) were GC/GT-naive, but met clinical criteria for GC/GT referral. Participants self-reported sociodemographic, clinical, and cultural variables, including previous provider discussion of GC. Descriptive statistics characterized frequency of GC discussion. Logistic regression examined the relationships between sociodemographic, clinical, and cultural characteristics and GC discussion. Only 31% of participants reported previous GC discussion. More participants from PR reported having GC discussions (43% vs. 21% in the mainland USA). In multivariable analyses, greater likelihood of GC discussion was associated with PR (vs. mainland USA) residence (odds ratio [OR] = 6.00, p = .03), older age at baseline (OR = 1.19, p = .04), and younger age at BC diagnosis (OR = 0.80, p = .03). Few high-risk Spanish-preferring Latina BC survivors in the mainland USA and PR had discussed GC with their providers. These results highlight a gap in the implementation of evidence-based genetics guidelines. Provider-directed interventions may be needed to increase uptake of GC/GT among Latina BC survivors.