Consideration of Population-Based BRCA Testing as a Strategy to Reduce Disparities in Genetic Counseling Referrals

1586 Background: The U.S. Preventive Services Task Force (USPSTF) recommends that women who meet family history criteria for hereditary breast and ovarian cancer (HBOC) be referred for genetic counseling. However, HBOC genetic testing is under-utilized, particularly among racial/ethnic minorities. We evaluated different methods of family history intake, including a validated family history screener, documentation in the electronic health record (EHR), and a web-based decision aid (DA). Methods: Among women undergoing screening mammography, we administered a validated family history screener to determine eligibility for BRCA genetic testing based upon USPSTF guidelines. We developed a patient-centered DA ( RealRisks) which includes modules on breast cancer risk, collection of detailed family history, and information on HBOC genetic testing. Women who met high-risk criteria for breast cancer were enrolled in an intervention trial to determine whether exposure to RealRisks increases referrals for high-risk consultations. BRCA genetic counseling/testing uptake was assessed by self-report and EHR review. Results: From November 2014 to June 2016, 3077 women completed the family history screener. Median age was 59 years (range, 29-99), including 76% Hispanic, 4% Ashkenazi Jewish, and 60% with a high school education or less. 12% met family history criteria for BRCA genetic testing based upon the family history screener, of which only 5.9% had previously undergone genetic counseling or testing. Sixty high-risk women were enrolled to access RealRisks. When family histories based upon the screener, DA, and EHR were compared, 12 (20%) had discrepancies in number of affected relatives, type of cancer, and age at diagnosis which changed eligibility for BRCA testing. Follow-up is ongoing to determine whether the DA facilitates appropriate referrals for genetic counseling. Conclusions: In a population of predominantly Hispanic and less educated women, a large proportion met USPSTF family history criteria for BRCA testing, but uptake of genetic counseling was low. Developing decision support for accurate family history intake is critical to identifying appropriate candidates for genetic referrals.

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Disparities in pretest genetic counseling among a population-based sample of young breast cancer patients.

Journal of Clinical Oncology ◽

10.1200/jco.2019.37.15_suppl.1579 ◽

2019 ◽

Vol 37 (15_suppl) ◽

pp. 1579-1579

Author(s):

Sonya Reid-Lawrence ◽

Tuya Pal ◽

Ingrid A. Mayer ◽

Xiao-Ou Shu ◽

Ann Tezak ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Counseling ◽

Genetic Testing ◽

Cancer Patients ◽

Hereditary Cancer ◽

Medical Records ◽

Population Based ◽

Racial Groups ◽

Breast Cancer Patients ◽

Young Breast Cancer

1579 Background: Per national practice guidelines, pre-test genetic counseling (GC) through a board-certified or credentialed genetics health professional (GHP) is recommended when testing for hereditary cancer. We sought to compare differences in rates of pre-test GC among young breast cancer (BC) patients tested with or without GHP involvement across three racial groups (Black, Hispanic and non-Hispanic white (NHW)). Methods: A population-based sample of Black, Hispanic and NHW women diagnosed with invasive BC ≤ age 50 from 2009 to 2012 were recruited through the Florida State Cancer Registry. Participants were asked to complete a baseline questionnaire and release medical records for verification of clinical information and genetic testing. We compared the rates of pre-test GC across racial groups in women tested with or without GHP involvement using Analysis of Variance. Multivariate logistic regression analysis was also conducted to adjust for potential confounders. Results: Of 1618 participants, 828 had genetic testing based on medical records and/or self-reported on their questionnaire. There were 170 (20.5%) with GHP involvement (either through consultation and/or test ordering) and the remaining 658 women (79.5%) had no documentation of GHP involvement. Among patients tested without GHP involvement, rates of pre-test GC were significantly lower among Black women (34.8%) compared to Hispanics (80%) and NHW (78.7%) (p < 0.001). In contrast, among those with GHP involvement, rates of pre-test GC were similar among Black (89.7%), Hispanic (81.1%) and NHW (84.6%) (p = 0.89). Conclusions: Our results suggest that among young breast cancer patients tested for hereditary cancer without GHP involvement, Blacks were significantly less likely to receive pre-test GC, compared to the other two groups. In contrast, rates of pre-test GC among those with GHP involvement were similar across all groups. These results suggest a disparity in receipt of pre-test GC (which is standard of care per national guidelines) among Blacks tested without GHP involvement. These findings are concerning given the need to offer guideline-adherent care to all patients receiving hereditary cancer testing.

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FLABRA, frontline approach for BRCA testing in ovarian cancer (OC) treatment naïve population: A Latin America (LA) epidemiologic study.

Journal of Clinical Oncology ◽

10.1200/jco.2019.37.15_suppl.e17050 ◽

2019 ◽

Vol 37 (15_suppl) ◽

pp. e17050-e17050

Author(s):

Susana Beatriz Goncalves ◽

Gonzalo Giornelli ◽

Marcelo Horacio Pereira ◽

Dolores Gallardo-Rincon ◽

Maria Del Pilar Estevez-Diz

Keyword(s):

Genetic Counseling ◽

Latin American ◽

Somatic Mutations ◽

Significant Proportion ◽

Epidemiologic Study ◽

Parp Inhibitors ◽

Brca Testing ◽

Brca Mutations ◽

Cross Sectional ◽

Preliminary Results

e17050 Background: The majority of OC cases are sporadic, but it is estimated that in 17%, germline mutations in BRCA1 or BRCA2 genes can be identified. BRCA mutated OC has distinct clinical characteristics, increased sensitivity to platinum and non-platinum agents, and to DNA damage repair (DDR) targeting agents like PARP inhibitors. Additionally, somatic BRCA mutations could be identified in tumor tissue. The prevalence of germline BRCA mutations (gBRCAm) and somatic mutations (sBRCAm) has been not been characterized in Latin-american population, which is a paradigm of poly-ethnicity, where prevalence of germline, but especially somatic BRCA mutations in OC, has not been studied. Furthermore, tumor testing as first step may be a new option in BRCA testing algorithm that could avoid the necessity for double testing (gBRCA, then sBRCA testing), in case of gBRCAm negative result. Methods: FLABRA is a cross-sectional, multi-center, study designed to determine the prevalence of sBRCAm in newly diagnosed OC patients versus gBRCAm, and to describe different treatment approaches at front line in LA, as well as current OC genetic counselling. We enrolled 400 consecutive patients from 40 institutions in Argentina, Brazil, Colombia, Mexico, Peru and Panama, diagnosed with OC. Tumor blocks were tested for sBRCA (Myriad Tumor BRACAnalysis CDx™). In sBRCA positive patients, blood samples were analyzed to confirm if the mutation was germline or somatic in origin. In gBRCAm, genetic counseling was advised. Medical records were reviewed for data relevant to medical history, surgery results, treatment approach and genetic counseling. Results: We present the preliminary results with 291 patients already tested. For this first subset of patients, 85/291 (29%) had BRCA mutations identified in their tumors. Preliminary results confirm that starting with tumor testing enlarges the population eligible for PARP inhibitors, by identifying additional patients with somatic mutations only detectable in the tumor. Although preliminary, our data confirms the possibility of identifying additional patients with sBRCA mutations by testing in tumor, with a more cost-effective approach, avoiding a second round of gBRCA testing in patients with BRCA negative results in tumor. Conclusions: In this preliminary analysis we found that somatic BRCA mutations account for a significant proportion from total BRCA mutations within LA population studied.

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First year outcomes of an initiative to increase BRCA testing among NCCN guideline-eligible breast cancer patients within a large community OCM practice.

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.15_suppl.1540 ◽

2020 ◽

Vol 38 (15_suppl) ◽

pp. 1540-1540

Author(s):

David Michael Waterhouse ◽

Andrew Guinigundo ◽

Aimee Brown ◽

Dan Davies ◽

Lauren Jones ◽

...

Keyword(s):

Genetic Counseling ◽

Data Collection ◽

Treatment Planning ◽

Screening Method ◽

Genetic Services ◽

Brca Testing ◽

Automate Data ◽

Nccn Guidelines ◽

Automate Data Collection ◽

Genetics Screening

1540 Background: Pathogenic variants in BRCA1/BRCA2 can affect a breast CA pts care: preventative interventions, surgical decisions, medical treatments, screening, and family counseling. National data suggests significant non-adherence to NCCN testing guidelines, with only 1/3 of eligible pts referred for genetic services. In 2018, OHC (Cincinnati) launched an APP-centric genetics program. Specially trained APPs carry out genetic counseling and order NCCN-compliant testing. Early data suggested a significant deficit in physician-driven referrals. From 1/01/18 - 07/31/18, 138 new breast pts were estimated to be NCCN guideline-eligible. Only 28 (20%) pts received genetic services. Methods: In 2019, the OHC genetics team implemented a standardized screening process for every new breast CA pt. An EMR template (iKnowMed G2) that included NCCN guidelines was created for initial breast CA consultation and Oncology Care Model (OCM) treatment planning. All pts, not just OCM pts, are subject to OCM treatment planning. This automated screening method ensured all breast CA pts were screened, drastically increasing compliance. Through integration of genetics screening into the templates, pts meeting NCCN criteria for testing are reflexively referred for genetic counseling. With USON/McKesson, integrated data fields were developed in the EMR to automate data collection. Results: From 01/01/19 – 12/31/19, 717 new breast CA pts were seen at OHC. 676/717 (94%) were screened. Of those screened, 279 new breast CA pts met NCCN criteria for BRCA testing. 140 (50%) eligible new pts had appts with the genetics team. Another 50 (18%) had confirmed testing outside of OHC. 57 (20%) refused appts and/or testing. 32 (11%) did not have appts, representing screen fails. Referrals in non-breast CA pts also increased by 127%; 604 (2019) vs 264 (2018) suggesting a halo effect. Analyses suggest the program to be economically viable, with a financial growth rate of 127%. Conclusions: EMR templates embedded with the NCCN guidelines for reflex genetics referral can appropriately increase the utilization of genetic services. Breast genetics screening and resultant appt/testing rates increased significantly 2019 vs 2018. Success in BRCA testing in breast CA will lead to expansion to other cancers and genes. Implementation of structured EMR genetics data fields can automate data collection and measure compliance. Integration of genetics screening into universal OCM treatment planning is feasible, economically viable and scalable.

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