Gaps in integrating genetic testing into management of breast cancer.

2017 ◽  
Vol 35 (8_suppl) ◽  
pp. 160-160 ◽  
Author(s):  
Steven J. Katz ◽  
Sarah T. Hawley ◽  
Reshma Jagsi ◽  
Allison W. Kurian

160 Background: Genetic testing for breast cancer risk is evolving rapidly, with surging use of multiple-gene panels. However, little is known about the extent to which testing is effectively integrated into management after diagnosis of breast cancer. Methods: A population-based sample of 3930 patients diagnosed with breast cancer in 2014-15 and identified by two SEER registries (Georgia and Los Angeles) were sent surveys 2 months after surgery and responses merged to SEER data. A subgroup at higher pre-test risk of pathogenic mutation carriage (vs average risk) was defined according to testing guidelines. Results: Among 2502 eligible patients with unilateral breast cancer (response rate 70%), 666 (27%) reported genetic testing. The Table shows wide variability in patient report of which professional ordered the test and discussed the results. Few (18-21%) patients had testing ordered by a genetic counselor and approximately half (57% high-risk, 42% average-risk) discussed results with one. One third of patient received testing after they had surgery. In a multivariable model adjusted for age, race, education, pre-test risk of mutation carriage, stage, co-morbidities and study site, the only factor significantly associated with delayed testing was insurance status: Compared to private insurance, patients were more likely to be tested after surgery if they had Medicare (OR 2.1, 95% CI 1.1-4.2) or no insurance (OR 3.0, CI 1.6-5.3). Conclusions: There is wide variability in which professionals order genetic testing and discuss results. Many breast cancer patients who receive genetic testing never see a genetic counselor. Many patients do not get tested early enough to consider the results in surgery management. These findings suggest enormous challenges in personalizing communication about genetic testing after diagnosis of breast cancer. [Table: see text]

2017 ◽  
Vol 35 (20) ◽  
pp. 2232-2239 ◽  
Author(s):  
Allison W. Kurian ◽  
Yun Li ◽  
Ann S. Hamilton ◽  
Kevin C. Ward ◽  
Sarah T. Hawley ◽  
...  

Purpose Genetic testing for breast cancer risk is evolving rapidly, with growing use of multiple-gene panels that can yield uncertain results. However, little is known about the context of such testing or its impact on treatment. Methods A population-based sample of patients with breast cancer diagnosed in 2014 to 2015 and identified by two SEER registries (Georgia and Los Angeles) were surveyed about genetic testing experiences (N = 3,672; response rate, 68%). Responses were merged with SEER data. A patient subgroup at higher pretest risk of pathogenic mutation carriage was defined according to genetic testing guidelines. Patients’ attending surgeons were surveyed about genetic testing and results management. We examined patterns and correlates of genetic counseling and testing and the impact of results on bilateral mastectomy (BLM) use. Results Six hundred sixty-six patients reported genetic testing. Although two thirds of patients were tested before surgical treatment, patients without private insurance more often experienced delays. Approximately half of patients (57% at higher pretest risk, 42% at average risk) discussed results with a genetic counselor. Patients with pathogenic mutations in BRCA1/2 or another gene had the highest rates of BLM (higher risk, 80%; average risk, 85%); however, BLM was also common among patients with genetic variants of uncertain significance (VUS; higher risk, 43%; average risk, 51%). Surgeons’ confidence in discussing testing increased with volume of patients with breast cancer, but many surgeons (higher volume, 24%; lower volume, 50%) managed patients with BRCA1/2 VUS the same as patients with BRCA1/2 pathogenic mutations. Conclusion Many patients with breast cancer are tested without ever seeing a genetic counselor. Half of average-risk patients with VUS undergo BLM, suggesting a limited understanding of results that some surgeons share. These findings emphasize the need to address challenges in personalized communication about genetic testing.


2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 45-45 ◽  
Author(s):  
Caitlin Laurel Gomez ◽  
Nicole Ann Dawson ◽  
Robyn Lynn Dvorak ◽  
Nova Foster ◽  
Anne Hoyt ◽  
...  

45 Background: Approximately 5% to 10% of women diagnosed with breast cancer have a genetic predisposition, which can affect management recommendations. The National Comprehensive Cancer Network (NCCN) has established guidelines for genetics referral and testing, however recent publications have indicated low rates of family history documentation and appropriate genetics referral. We sought to assess the impact of standardized family history documentation on rates of appropriate genetics referral in a multidisciplinary breast clinic (MDC) setting. Methods: In advance of MDC consultation, women with newly diagnosed breast cancer complete an intake questionnaire which includes documentation of Ashkenazi Jewish ancestry along with a thorough family history. We retrospectively analyzed family history documentation to inform eligibility for genetic testing and rates of appropriate genetics referral. Results: Between June 2012 and April 2014, 202 women with newly diagnosed, nonmetastatic breast cancer were seen in MDC. We noted 100% compliance with family history documentation. Per NCCN Guidelines, genetic testing was indicated in 52% (106 patients), of which 77% were appropriately referred to a genetic counselor for evaluation. All patients who met criteria based on personal history factors including age ≤ 45, triple-negative disease under age 60, or two or more breast primaries under age 50 were appropriately referred. Patients who were eligible but not referred ranged in age from 46 to 93 and were eligible for testing based on Ashkenzi Jewish ancestry (3 patients) or family history factors including a relative with ovarian cancer (3 patients), ≥2 relatives with breast cancer (5 patients), or a relative with breast cancer < age 50 (7 patients). Conclusions: Compared with recently published national averages, rates of appropriate family history documentation and genetic testing referrals are significantly higher in our MDC setting. However, this analysis has identified significant opportunity for improvement via identification of overlooked referral indications. Initiatives are underway to improve future compliance.


2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13108-e13108
Author(s):  
Drew Murray ◽  
Mounika Mandadi

e13108 Background: About 5-10% of breast cancers are hereditary. Identifying women with hereditary breast and ovarian cancer syndromes helps implement screening strategies, chemoprevention regimens, preventative surgeries and identify family members at risk. Little is known about reasons for non-compliance with genetic testing after referral by an oncologist. To gain insight we investigated these barriers in a population of patients in Louisville, Kentucky. Methods: The study design was a IRB approved single institution retrospective analysis of all newly diagnosed breast cancer patients in the year 2014. Data on age, gender, race, education, insurance status, family history, referral orders and genetic testing results were analyzed for 204 patients. Characteristics of patients who received genetic testing after referral was made were compared to patients who did not receive genetic testing, despite referral. The categorical variables were compared using the Pearson Chi-square test for contingency tables while the t-test was used for continuous variables. Significance level was set at p≤0.05. All calculations are performed with SAS statistical software (SAS Institute Inc., Cary, NC). Results: Of 204 newly diagnosed breast cancer patients seen in 2014, 109 met NCCN guidelines for genetic testing. 89 total patients were referred for genetic testing. 67 patients received genetic testing after referral, while 22 patients did not receive the testing despite being referred. 29 patients met criteria for testing but were never referred. Statistical significance existed (P = 0.019) for the insurance status variable, those with private insurance being more likely to receive testing after being referred, and those without insurance being less likely to show up for genetic testing after being referred. There was no statistical significance for age(P = 0.787), race(P = 0.555), or education (P = 0.322). Conclusions: Being covered by private insurance was associated with increased completion of genetic testing after being referred by an oncologist. Age, race, and education did not impact the likelihood of receiving testing if referred. Further investigations will be made into reasons for non-referral in patients who met NCCN guidelines for testing.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10524-10524
Author(s):  
Alexandra Wehbe ◽  
Mark A. Manning ◽  
Hadeel Assad ◽  
Kristen Purrington ◽  
Michael S. Simon

10524 Background: Carriers of pathogenic variants in cancer susceptibility genes have an elevated risk of developing breast, ovarian, and other cancers.We conducted a medical record review to determine the uptake of genetic counseling and testing in a clinic-based population of women with breast cancer. Methods: Medical records of 150 women with breast cancer seen at the Karmanos Cancer Institute between January-December 2018 were reviewed to determine the proportion eligible for genetic testing according to National Comprehensive Cancer Network guidelines. We also assessed genetics referral rates, appointment completion and results of genetic testing. Using chi-square and ANOVA tests, we analyzed the association of demographic and clinical factors with eligibility and referral to genetic counseling. Results: The average age of diagnosis was 57.1 years old, with 68.7% of women diagnosed with stage I-III disease, and 31.3% diagnosed with stage IV disease. There were 91 (60.7%) women who met NCCN criteria for genetic testing, of which 46.2% ultimately underwent genetic testing. Eligible women were more likely to be younger (52.6 vs. 64.0 years old), White (75.0% vs. 54.5%), and have Medicaid (75.0%) or private insurance (72.9%) vs. Medicare (44.8%). Women who met NCCN criteria were 3.5 times more likely to be referred for genetic counseling than those that did not meet eligibility criteria. Women were also more likely to be referred if they had early-stage disease compared to stage IV (67.8% vs. 48.3%), and Medicaid or private insurance compared to Medicare (71.4%, 72.0% and 40.0%, respectively). Of eligible women, 59.3% had a genetic counseling appointment scheduled, and of those, 78.0% attended their appointment. There were no apparent differences in appointment completion based on race with similar percentages of Black and White women completing their appointments (74.0% and 77.0% respectively). Women with stage IV disease were more likely to complete their appointments (83.0%) compared to women with stages I-III (74.0%) and fewer women with Medicare completed their genetic counseling appointment (56.0%) compared to women with Medicaid (83.0%) and women with private insurance (83.0%). Among women who attended their appointment, 95.9% underwent genetic testing. Of women who had genetic testing, 8.5% had a pathogenic variant and 30.4% had a variant of unknown significance. Conclusions: The results of this study indicate that lack of genetic counseling referrals contribute to a gap between the need for and completion of genetic testing. By understanding barriers to genetic counseling and testing, future clinical initiatives could effectively improve accessibility to genetic counseling services.


2020 ◽  
Author(s):  
Ramaiah Vinay Kumar

Abstract Background: Automatic Cone-beam computed tomography (CBCT) based image matching for set-up verification is recommended as compared to 2-D match for post-operative local / loco-regional radiotherapy of breast cancer patients by Volumetric Modulated Arc Therapy (VMAT) technique. However, in supine position, off-midline peripheral body Clinical Target Volume (CTV) of unilateral breast cancer patients immobilized on Breast and Lung board of All-in-One (AIO) positioning systemmay necessitate augmented movement of couch in ‘x’ and ‘z’ axis thereby raising the risk of collusion of x-ray sources / detectors system with couch. Methods and Materials: VMAT was planned by a pair of partial arc for whole target volume for seven consecutive post-operative breast cancer patients (five post-mastectomy and two post-breast conservation patients). Tattoo based set-up by shift of treatment table in x-, y- and z-axis as determined by Treatment Planning System followed by X-rays with planar image acquisition and online 2-D imaging matching was performed for set-up verification. In-room 360°rotation of x-ray source and detector system of linear accelerator (linac) was performed before x-ray planar image acquisition. Results: Completion of 360°rotation in-room of x-ray source and detector system of linacaround the machine iso-centre was not possible in six out of seven patients due to possibility of collusion of gantry with contralateral side of the couch. Conclusion: Performing CBCT for generating 3D images for computed tomography (CT) reconstruction may not be practical for patient set-up verification of post-operative radiotherapy of unilateral breast cancer patients positioned supine on breast and lung board.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e12544-e12544
Author(s):  
Nikhita Kathuria-Prakash ◽  
Lauren Antrim ◽  
Alexander W Sun ◽  
Irene Kang ◽  
Maria De Lourdes Garcia-Jimenez ◽  
...  

e12544 Background: Severe acute respiratory syndrome coronavirus (SARS-CoV)-2 has affected over 100 million individuals during the current pandemic. Cancer is a reported risk factor for worse outcomes from SARS-CoV-2 infection and its clinical syndrome COVID-19. However, risk associated with specific cancer subtypes, extent of disease, and treatment history remains unclear. Breast cancer is the most common cancer in women and is treated with multiple modalities that may affect COVID-19 severity and outcomes, including surgery, radiation (RT), hormone therapy (HT), and chemotherapy (CT). Methods: We conducted a retrospective cohort study of patients with SARS-CoV-2 and history of breast cancer at two academic centers in Los Angeles, CA between January – September, 2020. Demographic information, cancer diagnosis, treatment history, comorbid conditions, and clinical outcomes of COVID-19 were reviewed. The primary outcome was rate of hospitalization for COVID-19. Associations were evaluated for significance by chi-square test or Student’s T test, with a = 0.05. Results: Our cohort included 61 patients with history of breast cancer. 19 (31.1%) required hospitalization and 3 (4.9%) died from COVID-19. Median age was 61 years. 44% of patients were White/Caucasian, 37.7% Hispanic/Latinx, 8% Black/African American, 5% Asian, and 5% were of another race. 87% of patients had local or regional disease and 13% had distant metastases. 53% of patients had ever received CT historically, 66% HT, and 53% RT. 25% of patients received cancer treatment (surgery, CT, or RT) within 90 days of COVID-19 diagnosis. 38% were on HT at time of COVID-19 diagnosis. Patients with prior RT were more likely to be hospitalized from COVID-19 than those with no prior RT (44% vs 14%, p = 0.02), as were patients with 2 or more comorbidities (p = 0.01). In addition, there was a trend toward lower hospitalization rates for patients on HT [24% vs. 42% (p = 0.17)] and a trend toward higher hospitalization rate for non-white ethnicity [35% vs. 25% (p = ns)]. Extent of disease, history of CT, or receipt of any cancer treatment (e.g. surgery, RT, CT) within 90 days of COVID-19 diagnosis were not associated with hospitalization rate. Conclusions: In our diverse cohort of breast cancer patients with COVID-19 a history of RT and presence of multiple comorbidities were both associated with increased risk of hospitalization, while a history of HT was not. Further investigation is needed to validate these findings in larger cohorts. These findings may inform recommendations for breast cancer patients during the ongoing SARS-CoV-2 pandemic.


2020 ◽  
Vol 28 (1) ◽  
pp. 281-286 ◽  
Author(s):  
J. Jaime Alberty-Oller ◽  
Sarah Weltz ◽  
Antonio Santos ◽  
Kereeti Pisapati ◽  
Meng Ru ◽  
...  

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