Understanding barriers to receiving genetic testing after referral.

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.

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

2017 ◽  
Vol 214 (1) ◽  
pp. 105-110 ◽  
Author(s):  
Laura Hafertepen ◽  
Alyssa Pastorino ◽  
Nichole Morman ◽  
Jennifer Snow ◽  
Deepa Halaharvi ◽  
...  

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e12602-e12602
Author(s):  
Bader I Alshamsan ◽  
Kausar Suleman ◽  
Naela Agha ◽  
Marwa Ismail Abdelgawad ◽  
Mashari J Alzahrani ◽  
...  

e12602 Background: Excess weight is currently recognized as a risk factor for several cancer types, including breast cancer. The primary goal of this study was to evaluate the impact of overweight and obesity in newly diagnosed breast cancer patients at the time of presentation. Methods: A retrospective analysis of breast cancer from a prospective database of all newly diagnosed non-metastatic breast cancer patients seen at King Faisal Specialist Hospital and Research Center between 2002 and 2014 was performed. The clinical stages were divided into early stage breast cancer and locally advanced breast cancer. The body mass index (BMI) groups were underweight, normal, overweight, and obese based on the World Health Organization classifications of BMI. The patient characteristics are presented as medians with interquartile ranges (IQRs) and frequencies for continuous and categorical variables, respectively. The association between BMI groups and clinical stage at presentation was evaluated using the logistic regression model. Survival probabilities were calculated using the Kaplan-Meier estimator. Results: In total, 2212 patients were eligible for the study. The median age at diagnosis was 45 (IQR = 39-52) years; 62% patients were pre-menopausal, and 31% were post-menopausal. The median BMI was 30 (IQR = 26-34) kg/m2. In this population, 53% patients were obese; 31%, overweight; and 14.7%, in the normal range at diagnosis. Regression analysis revealed a significant association between clinical stage and BMI at the time of presentation (p = 0.006). Obese patients showed a 40% higher chance of having locally advanced presentation than the normal BMI group (OR = 1.41, 95% confidence interval = 1.06-1.86, p = 0.02). However, overweight had no significant association with clinical stage (OR = 1.03, 95% confidence interval = 0.76-1.8). The median follow-up duration was 39 (IQR = 22-66.6) months. Overall survival showed no significant association with different BMI groups and breast cancer subtypes. Conclusions: The prevalence of overweight and obesity was found to be high (85%) in newly diagnosed breast cancer patients in Saudi Arabia. Obesity is associated with a more advanced clinical stage at the time of diagnosis of breast cancer and may be a contributing factor for more locally advanced presentations in the region.


2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 231-231
Author(s):  
Molly Mendenhall ◽  
Andrew Guinigundo ◽  
Elizabeth Burneka ◽  
Hannah Kolish ◽  
Sarah Mancini ◽  
...  

231 Background: Despite consensus driven recommendations, data suggests significant non-compliance in breast cancer genetic screening and testing. In the US nearly 300,000 patients are diagnosed with breast cancer annually, of whom approximately one-third are estimated to be BRCA-testing eligible by NCCN guidelines. Of this cohort of patients eligible for testing, it is estimated that again only one-third are ultimately being referred for genetic counseling and testing. Ideally, every patient who is guideline-eligible for testing should be tested, if they consent. The purpose of this project was to integrate and universally apply NCCN genetic breast cancer testing guidelines, building off current OCM processes, to all new breast and/or metastatic breast cancer patients within a large multi-site community oncology practice setting. Methods: Providers utilized directed EHR templates in the setting of an initial diagnosis visit or a treatment planning “OCM visit”. Discreet data fields were created in the EHR to streamline, prompt, and automate this process. Following provider education and uniform physician pre-approval, appropriate patients were reflexively referred to the genetics team for further evaluation and BRCA testing. Adherence to the plan was maintained and measured using data analytic reports and chart audits. Results: OHC’s pre-project eligible patient testing rate (2018) was found to be 20%. Between 1/2019 to 1/2021 1,203 new breast and/or metastatic breast cancer patients were seen and deemed eligible for inclusion, fully 1,200 were screened using NCCN guidelines (99%). Of those screened, 631 patients met the NCCN testing criteria (52.5%). 585 of the 631 were referred to a genetic specialist (92.7%), of those 449 patients were tested (76.7%), 136 patients refused (30%). 22 patients were found to have a BRCA 1 or 2 mutation (5.3%). An additional “halo” effect on other cancer diagnoses was also observed. Screening newly diagnosed breast cancer and metastatic breast cancer patients resulted in a 163% increase in genetic referrals aside from those with breast cancer. Conclusions: Our results suggest a significant overall improvement in breast cancer genetic testing rates. Implemented methods of provider education and awareness of NCCN guidelines imbedded within provider notes, together with discreet data fields in the EHR, proved to be highly effective at screening appropriate patients and ordering subsequent genetic testing; ensuring nearly 100% compliance with current NCCN guidelines for genetic testing. The workflow also resulted in a favorable increase in genetic referrals and testing across other cancers. The patient refusal rate for testing merits further investigation. This structured workflow with reflex genetics referral was effective, scalable, and financially viable to overall genetic and practice growth.


2020 ◽  
Vol 122 (2) ◽  
pp. 134-143
Author(s):  
Mary K. Ladd ◽  
Beth N. Peshkin ◽  
Claudine Isaacs ◽  
Gillian Hooker ◽  
Shawna Willey ◽  
...  

Author(s):  
Nils Martin Bruckmann ◽  
Julian Kirchner ◽  
Lale Umutlu ◽  
Wolfgang Peter Fendler ◽  
Robert Seifert ◽  
...  

Abstract Objectives To compare the diagnostic performance of [18F]FDG PET/MRI, MRI, CT, and bone scintigraphy for the detection of bone metastases in the initial staging of primary breast cancer patients. Material and methods A cohort of 154 therapy-naive patients with newly diagnosed, histopathologically proven breast cancer was enrolled in this study prospectively. All patients underwent a whole-body [18F]FDG PET/MRI, computed tomography (CT) scan, and a bone scintigraphy prior to therapy. All datasets were evaluated regarding the presence of bone metastases. McNemar χ2 test was performed to compare sensitivity and specificity between the modalities. Results Forty-one bone metastases were present in 7/154 patients (4.5%). Both [18F]FDG PET/MRI and MRI alone were able to detect all of the patients with histopathologically proven bone metastases (sensitivity 100%; specificity 100%) and did not miss any of the 41 malignant lesions (sensitivity 100%). CT detected 5/7 patients (sensitivity 71.4%; specificity 98.6%) and 23/41 lesions (sensitivity 56.1%). Bone scintigraphy detected only 2/7 patients (sensitivity 28.6%) and 15/41 lesions (sensitivity 36.6%). Furthermore, CT and scintigraphy led to false-positive findings of bone metastases in 2 patients and in 1 patient, respectively. The sensitivity of PET/MRI and MRI alone was significantly better compared with CT (p < 0.01, difference 43.9%) and bone scintigraphy (p < 0.01, difference 63.4%). Conclusion [18F]FDG PET/MRI and MRI are significantly better than CT or bone scintigraphy for the detection of bone metastases in patients with newly diagnosed breast cancer. Both CT and bone scintigraphy show a substantially limited sensitivity in detection of bone metastases. Key Points • [18F]FDG PET/MRI and MRI alone are significantly superior to CT and bone scintigraphy for the detection of bone metastases in patients with newly diagnosed breast cancer. • Radiation-free whole-body MRI might serve as modality of choice in detection of bone metastases in breast cancer patients.


Breast Care ◽  
2020 ◽  
pp. 1-9
Author(s):  
Rudolf Napieralski ◽  
Gabriele Schricker ◽  
Gert Auer ◽  
Michaela Aubele ◽  
Jonathan Perkins ◽  
...  

<b><i>Background:</i></b> PITX2 DNA methylation has been shown to predict outcomes in high-risk breast cancer patients after anthracycline-based chemotherapy. To determine its prognostic versus predictive value, the impact of PITX2 DNA methylation on outcomes was studied in an untreated cohort vs. an anthracycline-treated triple-negative breast cancer (TNBC) cohort. <b><i>Material and Methods:</i></b> The percent DNA methylation ratio (PMR) of paired-like homeodomain transcription factor 2 (PITX2) was determined by a validated methylation-specific real-time PCR test. Patient samples of routinely collected archived formalin-fixed paraffin-embedded (FFPE) tissue and clinical data from 144 TNBC patients of 2 independent cohorts (i.e., 66 untreated patients and 78 patients treated with anthracycline-based chemotherapy) were analyzed. <b><i>Results:</i></b> The risk of 5- and 10-year overall survival (OS) increased continuously with rising PITX2 DNA methylation in the anthracycline-treated population, but it increased only slightly during 10-year follow-up time in the untreated patient population. PITX2 DNA methylation with a PMR cutoff of 2 did not show significance for poor vs. good outcomes (OS) in the untreated patient cohort (HR = 1.55; <i>p</i> = 0.259). In contrast, the PITX2 PMR cutoff of 2 identified patients with poor (PMR &#x3e;2) vs. good (PMR ≤2) outcomes (OS) with statistical significance in the anthracycline-treated cohort (HR = 3.96; <i>p</i> = 0.011). The results in the subgroup of patients who did receive anthracyclines only (no taxanes) confirmed this finding (HR = 5.71; <i>p</i> = 0.014). <b><i>Conclusion:</i></b> In this hypothesis-generating study PITX2 DNA methylation demonstrated predominantly predictive value in anthracycline treatment in TNBC patients. The risk of poor outcome (OS) correlates with increasing PITX2 DNA methylation.


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