scholarly journals Impact of changing guidelines on genetic testing and surveillance recommendations in a contemporary cohort of breast cancer survivors with family history of pancreatic cancer

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Annie Wang ◽  
Jessica N. Everett ◽  
Jennifer Chun ◽  
Cindy Cen ◽  
Diane M. Simeone ◽  
...  

AbstractChanging practice guidelines and recommendations have important implications for cancer survivors. This study investigated genetic testing patterns and outcomes and reported family history of pancreatic cancer (FHPC) in a large registry population of breast cancer (BC) patients. Variables including clinical and demographic characteristics, FHPC in a first or second-degree relative, and genetic testing outcomes were analyzed for BC patients diagnosed between 2010 and 2018 in the NYU Langone Health Breast Cancer Database. Among 3334 BC patients, 232 (7%) had a positive FHPC. BC patients with FHPC were 1.68 times more likely to have undergone genetic testing (p < 0.001), but 33% had testing for BRCA1/2 only and 44% had no genetic testing. Pathogenic germline variants (PGV) were identified in 15/129 (11.6%) BC patients with FHPC, and in 145/1315 (11.0%) BC patients without FHPC. Across both groups, updates in genetic testing criteria and recommendations could impact up to 80% of this cohort. Within a contemporary cohort of BC patients, 7% had a positive FHPC. The majority of these patients (56%) had no genetic testing, or incomplete testing by current standards, suggesting under-diagnosis of PC risk. This study supports recommendations for survivorship care that incorporate ongoing genetic risk assessment and counseling.

2021 ◽  
Author(s):  
Annie Wang ◽  
Jessica N. Everett ◽  
Jennifer Chun ◽  
Cindy Cen ◽  
Diane M. Simeone ◽  
...  

Abstract Background: Changing practice guidelines and recommendations have important implications for cancer survivors. This study investigated genetic testing patterns and outcomes and reported family history of pancreatic cancer (FHPC) in a large registry population of breast cancer (BC) patients. Methods: Variables including clinical and demographic characteristics, FHPC in a first or second-degree relative, and genetic testing outcomes were analyzed for BC patients diagnosed between 2010-2018 in the NYU Langone Health Breast Cancer Database. Results: Among 3334 BC patients, 232 (7%) had a positive FHPC. BC patients with FHPC were 1.68 times more likely to have undergone genetic testing (p<0.001), but 33% had testing for BRCA1/2 only and 44% had no genetic testing. Pathogenic germline variants (PGV) were identified in 15/129 (11.6%) BC patients with FHPC, and in 145/1315 (11.0%) BC patients without FHPC. Across both groups, updates in genetic testing criteria and recommendations could impact up to 80% of this cohort. Conclusions: Within a contemporary cohort of BC patients, 7% had a positive FHPC. The majority of these patients (56%) had no genetic testing, or incomplete testing by current standards, suggesting under-diagnosis of PC risk. This study supports recommendations for survivorship care that incorporate ongoing genetic risk assessment and counseling.


2020 ◽  
Vol 16 (1) ◽  
pp. e37-e55 ◽  
Author(s):  
Danika Scott ◽  
Sue Friedman ◽  
Melinda L. Telli ◽  
Allison W. Kurian

PURPOSE: To understand genetic testing use and decision making among patients with high genetic risk. MATERIALS AND METHODS: A survey of breast cancer survivors was administered online by a hereditary cancer nonprofit organization, Facing Our Risk of Cancer Empowered, from October 2017 to March 2018. RESULTS: Of 1,322 respondents, 46% had breast cancer at age < 45 years, 61% had a first-degree relative with cancer, and 84% underwent genetic testing, of whom 56% had a risk-associated pathogenic variant. Most (86%; 95% CI, 84% to 88%) tested respondents were very satisfied with their testing decision, versus 34% (95% CI, 27% to 41%) of untested respondents. Factors that encouraged testing included relatives’ cancer risk (75%; 95% CI, 73% to 78%), clinicians’ recommendations (68%; 95% CI, 66% to 71%), and potential treatment implications (67%; 95% CI, 64% to 69%). Factors that discouraged testing included insurance concerns (14%; 95% CI, 12% to 16%), cost (14%; 95% CI, 12% to 16%), and discrimination (9%; 95% CI, 7% to 11%). Thirty-nine percent (95% CI, 36% to 41%) recalled hearing from a clinician that genetic discrimination is illegal. Respondents often recalled clinicians informing them about inheritance patterns (65%; 95% CI, 62% to 67%), surgical implications (65%; 95% CI, 63% to 68%), and other cancer risks (66%; 95% CI, 63% to 68%) but less often that results could have potential implications for clinical trial eligibility (38%; 95% CI, 36% to 42%) or targeted therapies (14%; 95% CI, 12% to 16%). Patients who had genetic counseling were twice as likely to recall clinicians informing them about all queried topics. Results did not vary by diagnosis year. CONCLUSION: Among patients with high genetic risk, clinicians’ recommendations, potential treatment implications, and protections against discrimination were motivating factors to undergo genetic testing, but fewer than half recalled clinicians providing all this information, and this did not improve over time. Clinicians influence testing decisions and should inform patients about legal protections and treatment implications.


2010 ◽  
Vol 76 (8) ◽  
pp. 879-882
Author(s):  
Suzanne C. Schiffman ◽  
Anees B. Chagpar

We sought to determine differences in risk perception and use of genetic testing in these individuals compared with those with a family history of female breast cancer (FHxFBC) in a population-based cohort. Data from the 2005 National Health Interview Survey were used to assess risk perception and use of genetic counseling in individuals with a family history of male breast cancer (FHxMBC) versus those with a FHxFBC. Of the 2429 individuals with a first-degree relative with breast cancer surveyed, 21 (0.7%) had a FHxMBC, whereas 2408 (99.3%) had a FHxFBC. Women who had a FHxMBC perceived themselves as being at higher risk for developing breast cancer than those with a FHxFBC (61.5 vs 46.5%, P = 0.011). Fewer individuals with a FHxMBC had heard about genetic testing than those with a FHxFBC (38.4 vs 50.8%, P = 0.322). Of these, none of the individuals with a FHxMBC discussed this with their physician (vs 13% of individuals with a FHxFBC, P = 0.004) and none underwent genetic testing (vs 3% of individuals with a FHxFBC, P = 0.009). Women with a FHxMBC perceive this as being associated with increased cancer risk, but few discuss this with their physicians. Physicians should be proactive in discussing risk with these patients.


1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.


2019 ◽  
Vol 25 (6) ◽  
pp. 1241-1244
Author(s):  
Anne H Blaes ◽  
Patricia I Jewett ◽  
Kathleen McKay ◽  
Danielle Riley ◽  
Ismail Jatoi ◽  
...  

2019 ◽  
Vol 27 (5) ◽  
pp. 1659-1670
Author(s):  
Claire C. Conley ◽  
Monica L. Kasting ◽  
Bianca M. Augusto ◽  
Jennifer D. Garcia ◽  
Deborah Cragun ◽  
...  

2019 ◽  
Vol 3 (Supplement_1) ◽  
pp. S649-S650
Author(s):  
Giancarlo Pasquini ◽  
Brent J Small ◽  
Jacqueline Mogle ◽  
Martin Sliwinski ◽  
Stacey B Scott

Abstract Breast cancer survivors may experience accelerated decline in cognitive functioning compared to same-aged peers with no cancer history (Small et al., 2015). Survivors may show important differences in mean-level performance or variability in cognitive functioning compared to those without a history of cancer (Yao et al., 2016). This study compared ambulatory cognitive functioning in a sample of breast cancer survivors and an age-matched community sample without a history of cancer (n_cancer=47, n_non-cancer=105, age range: 40-64 years, M=52.13 years). Participants completed three cognitive tasks measuring working memory, executive functioning, and processing speed up to five times per day for 14 days. Results indicated no mean-level differences in cognitive performance on the three tasks between cancer survivors and those without cancer history (p’s&gt;.05). Unexpectedly, women without cancer history showed more variability than survivors on working memory but not on the other two tasks. Across both groups, those without a college education performed worse on executive functioning (B=-0.05, SE=0.03, p&lt;.05) and working memory (B=0.94, SE=0.36, p&lt;.05) compared to those that completed college. Additionally, older age was associated with slower processing speed (B=31.67, SE=7.44, p&lt;.001). In sum, this study did not find mean-level group differences in cognitive functioning between cancer survivors and age-matched women without a history of cancer. Contrary to hypotheses, those without a history of cancer were more variable on working memory. Results suggested similarities in cognitive functioning in the two samples and that education and age are important predictors of cognitive functioning independent of cancer history.


Author(s):  
Helena Carreira ◽  
Rachael Williams ◽  
Harley Dempsey ◽  
Susannah Stanway ◽  
Liam Smeeth ◽  
...  

Abstract Purpose There is limited high-quality evidence on quality of life, anxiety, and depressive symptoms in breast cancer survivors and women with no history of cancer. We aimed to address this by comparing patient-reported outcomes between breast cancer survivors and women with no history of breast cancer. Methods Breast cancer survivors and women with no prior cancer were selected from the UK Clinical Practice Research Datalink GOLD primary care database, which includes population-based primary care electronic health record data. Breast cancer survivors and controls were frequency matched by age and primary care practice. Outcomes were assessed with validated instruments via postal questionnaire. Linear and logistic regression models were fitted to estimate adjusted associations between breast cancer survivorship and outcomes. Results A total of 356 breast cancer survivors (8.1 years post diagnosis) and 252 women with no prior cancer participated in the study. Compared with non-cancer controls, breast cancer survivors had poorer QoL in the domains of cognitive problems (adjusted β (aβ) = 1.4, p = 0.01), sexual function (aβ = 1.7, p = 0.02) and fatigue (aβ = 1.3, p = 0.01), but no difference in negative feelings, positive feelings, pain, or social avoidance. Breast cancer survivors had higher odds of borderline-probable anxiety (score ≥ 8) (adjusted OR = 1.47, 95%CI:1.15–1.87), but no differences in depression. Advanced stage at diagnosis and chemotherapy treatment were associated with poorer QoL. Conclusions Compared with women with no history of cancer, breast cancer survivors report more problems with cognition, sexual function, fatigue, and anxiety, particularly where their cancer was advanced and/or treated with chemotherapy. Implications for Cancer Survivors Breast cancer survivors with more advanced disease and/or treated with chemotherapy should be closely monitored and, when possible, offered evidence-based intervention for fatigue, cognitive dysfunction, and sexual problems.


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