BRCA testing concordance with national guidelines for patients with breast cancer in community cancer programs.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1526-1526
Author(s):  
Leigh Boehmer ◽  
Latha Shivakumar ◽  
Christine B. Weldon ◽  
Julia Rachel Trosman ◽  
Stephanie A. Cohen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
High Risk ◽  
Genetic Test ◽  
Breast Conserving Surgery ◽  
Test Results ◽  
Cancer Genes ◽  
National Guidelines ◽  
Genetic Test Results ◽  
The Impact

1526 Background: Current National Comprehensive Cancer Network guidelines for genetic/familial high-risk assessment state that testing for highly penetrant breast/ovarian cancer genes is clinically indicated for women with early onset (≤ 45 years) or metastatic HER-2 negative breast cancer. A recent Association of Community Cancer Centers (ACCC) survey (N = 95) showed that > 80% of respondents reported ≤ 50% testing rate of patients with breast cancer who met guidelines. Given this disconnect, ACCC partnered with 15 community cancer programs to assess practice gaps and support interventions to improve access to genetic counseling (GC)/testing. Methods: Pre-intervention data from 9/15 partner programs for women diagnosed with stages 0-III breast cancer between 01/01/2017 and 06/30/2019 was collected. De-identified variables included: family history documentation, GC appointment/test results, and timing of results relative to treatment decisions. Results: There were 2691 women with stages 0-III breast cancer. Forty-eight percent (1284/2691) had a documented high-risk family history, 57% (729/1284) of whom had a GC appointment. This was a significantly higher rate of GC compared to the 23% (181/778) of women with no family history and 6% (35/629) of women with no documentation of family history (p < 0.0001). Patients ≤ 45 years old attended a GC appointment 72% (199/278) of the time and 49% (135/278) had genetic test results, with 84% (113/135) receiving results before surgery. For women with test results available before surgery, 37% (119/322) had breast conserving surgery, compared to 60% (144/240) with test results disclosed post-operatively (p < 0.0001). Conclusions: Genetic testing is underutilized in a community cohort of women with breast cancer. Further analysis is needed to understand the impact genetic test results have on surgical decisions. Opportunities exist to improve current rates of appropriate GC/testing. ACCC will share results of quality improvement projects to illuminate which strategies hold promise in reducing the hereditary breast cancer GC/testing practice gap.

Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years

2021 ◽  
pp. jmedgenet-2021-107742
Author(s):  
Alice Garrett ◽  
Sabrina Talukdar ◽  
Louise Izatt ◽  
Angela F Brady ◽  
Sinead Whyte ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Pathogenic Variant ◽  
Her2 Status ◽  
Clinical Genetics ◽  
Premenopausal Breast Cancer ◽  
Genetic Test Results ◽  
Genetics Services ◽  
Clinical Genetics Services ◽  
The Impact

BackgroundThe most common cancer diagnosed in germline TP53 pathogenic variant (PV) carriers is premenopausal breast cancer. An increased rate of breast tumour HER2 positivity has been reported in this group. Screening for breast/other cancers is recommended in PV carriers.Objectives1. To assess the frequency of germline TP53 PVs reported diagnostically in women with breast cancer at <30 years of age.2. To evaluate the impact of personal/family history and HER2 status on the likelihood of germline TP53 pathogenic/likely pathogenic variant (PV/LPV) identification.MethodsGenetic test results from patients undergoing diagnostic germline TP53 tests between 2012 and 2017 in the four London Regional Clinical Genetics Services were reviewed. Clinical/pathology data and family history were extracted from genetics files for women diagnosed with breast cancer at <30 years.ResultsThe overall germline TP53 PV/LPV variant detection rate was 9/270=3.3% in all women diagnosed with breast cancer at <30 years and 2/171=1.2% in those with no second/subsequent cancer diagnosis or family history of TP53-spectrum cancers. Breast cancers were significantly more likely to be HER2-positive in TP53 PV/LPV carriers than in non-carriers (p=0.00006).ConclusionsGermline TP53 PVs/LPVs are uncommon among women diagnosed with breast cancer aged <30 years without other relevant personal or family cancer history but have an important clinical impact when identified.

scholarly journals The big reveal: Family disclosure patterns of BRCA genetic test results among young Black women with invasive breast cancer

2020 ◽  
Vol 29 (3) ◽  
pp. 410-422 ◽  
Author(s):  
Claire C. Conley ◽  
Dana Ketcher ◽  
Maija Reblin ◽  
Monica L. Kasting ◽  
Deborah Cragun ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Black Women ◽  
Invasive Breast Cancer ◽  
Genetic Test ◽  
Test Results ◽  
Genetic Test Results ◽  
Young Black Women ◽  
Disclosure Patterns

Integration of germline multigene panel testing into breast and gynecologic oncology clinics.

2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 164-164
Author(s):  
Mariella Tejada ◽  
June YiJuan Hou ◽  
Katherine D. Crew ◽  
Melissa Kate Accordino ◽  
Kevin Kalinsky ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Decision Making ◽  
Genetic Testing ◽  
Clinical Decision Making ◽  
Genetic Test ◽  
Gynecologic Oncology ◽  
Clinical Decision ◽  
Test Results ◽  
Panel Testing ◽  
Genetic Test Results

164 Background: Germline genetic testing plays an important role in informing cancer screening and risk-reducing strategies, as well as treatment decisions with PARP inhibitors for BRCA-associated malignancies. Referrals to clinical genetics for pre-test counseling and results disclosure can be delayed due to financial and logistical barriers, which may ultimately delay clinical decision-making. Our study objective was to understand patient attitudes, knowledge, and anxiety/distress with point-of-care (POC) genetic testing in breast and gynecologic oncology clinics. Methods: We enrolled patients with early-stage breast cancer undergoing neoadjuvant treatment, metastatic breast cancer, ovarian cancer, or endometrial cancer undergoing POC multigene panel testing with their primary oncologist, rather than a genetic counselor. Pre-test counseling came from discussion with their primary oncologist. Participants completed a survey at time of genetic testing and one after return of genetic test results. Validated measures of genetic testing knowledge, cancer-related distress, and attitudes towards genetic testing were included. Descriptive statistics were generated for all data collected and paired t-tests were conducted for baseline and follow-up comparisons. Results: We enrolled 106 subjects, of which 97 completed the baseline survey. All participants were female with a mean age of 61.5 years (SD 13.5). The cohort consisted of participants with the following tumor types: 80 breast, 2 ovarian, and 16 endometrial. Almost 44% of women identified as Hispanic/Latina, 55% had highest level of education of community/technical college or less, and 51.2% reported annual incomes of less than $50,000. Forty-seven percent of participants had adequate baseline genetic testing knowledge scores (defined as at least 50% correct responses). A majority of participants (86.6%) had positive attitudes toward undergoing genetic testing. Results of genetic testing revealed 11 participants (11.3%) with pathogenic or likely pathogenic variants (of which 36.3% were in BRCA1/2), 25 (25.8%) with variants of unknown significance (VUS), and 61 (62.9%) with benign or likely benign results. The mean cancer-related distress score (scale from 15 to 60, higher score indicates higher levels of distress) was 32.78 (SD 9.74) at baseline and 26.5 (SD 8.9) after receiving genetic testing results (p = 0.002). Genetic test results informed cancer treatment decisions regarding medications and surgery in 15% and 13% of patients, respectively, the majority of which were breast cancer patients. Conclusions: As genetic testing is more frequently used for clinical decision-making it is important to develop ways to efficiently integrate POC testing in the oncology clinics. We demonstrated that POC genetic testing for breast and gynecologic cancers is feasible and can inform clinical decision-making.

scholarly journals Communication Between Breast Cancer Patients Who Received Inconclusive Genetic Test Results and Their Daughters and Sisters Years After Testing

2015 ◽  
Vol 25 (3) ◽  
pp. 461-471 ◽  
Author(s):  
Jessica E. Baars ◽  
Margreet G. E. M. Ausems ◽  
Els van Riel ◽  
Marijke C. Kars ◽  
Eveline M. A. Bleiker
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Genetic Test ◽  
Test Results ◽  
Breast Cancer Patients ◽  
Genetic Test Results

scholarly journals How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study

2015 ◽  
Vol 18 (4) ◽  
pp. 216-224 ◽  
Author(s):  
Jenny E. Ostergren ◽  
Michele C. Gornick ◽  
Deanna Alexis Carere ◽  
Sarah S. Kalia ◽  
Wendy R. Uhlmann ◽  
...  
Keyword(s):  
Genetic Test ◽  
Genomic Testing ◽  
Test Results ◽  
Personal Genomics ◽  
Personal Genomic ◽  
Personal Genomic Testing ◽  
Direct To Consumer ◽  
Genetic Test Results ◽  
The Impact

Communication with Family Members about Positive BRCA1/2 Genetic Test Results in Korean Hereditary Breast Cancer Families

2011 ◽  
Vol 8 (2) ◽  
pp. 105-112 ◽  
Author(s):  
Eunyoung Kang ◽  
Sue K. Park ◽  
Ku Sang Kim ◽  
Doo Ho Choi ◽  
Seok-Jin Nam ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Genetic Test ◽  
Family Members ◽  
Test Results ◽  
Genetic Test Results

Parent perceptions of offspring responses to parental communication of BRCA1/2 test results

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 1511-1511 ◽  
Author(s):  
A. R. Bradbury ◽  
L. Patrick-Miller ◽  
B. Egleston ◽  
C. Sands ◽  
M. Feigon ◽  
...  
Keyword(s):  
Genetic Test ◽  
Positive Impact ◽  
Childhood And Adolescence ◽  
Test Results ◽  
Variant Of Uncertain Significance ◽  
Mutation Carriers ◽  
Genetic Test Results ◽  
Self Reports ◽  
Uncertain Significance ◽  
The Impact

1511 Background: Many BRCA1/2 mutation carriers report sharing their genetic test results with their minor children. The impact of this communication on offspring remains unknown. Methods: 163 parents who had BRCA1/2 testing completed qualitative interviews regarding their experiences with communication of their genetic test results to offspring. Descriptive responses were coded and response proportions utilized to summarize results. We used multiple regressions fit by GEE to test associations with disclosure. We controlled for parent mutation status in each regression. Results: 163 parents (52 BRCA1/2 mutation carriers) reported on 323 offspring 5 to 25 years old at the time of parent genetic testing. 107 (66%) parents reported disclosing to at least one offspring. Child age (p < 0.001) and parent cancer history (p = 0.004) were positively associated with disclosure. Parents without a BRCA1/2 mutation were more likely to communicate test results than parents with a mutation (p = 0.007). Among parents who disclosed, few (14%) reported they perceived their offspring to have had an initial negative affective or behavioral response. Others (13%) reported offspring concern for self and family. Reports of initial negative responses and concern were more frequent among parents with a mutation or a variant of uncertain significance. Many parents reported that the communication had no significant impact (39%) or a positive impact (36%) on their offspring. Conclusions: Many parents report sharing BRCA1/2 test results with their offspring. Parent self-reports suggest that they do not perceive most offspring to experience adverse reactions to this communication. Self-reports suggest that offspring learning of a BRCA1/2 mutation or a variant of uncertain significance may be more susceptible to initial negative reactions. Further research is necessary to explore psychosocial and behavioral responses to learning of hereditary risk during childhood and adolescence, and to inform the development of interventions to optimize adaptive response. No significant financial relationships to disclose.

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