Genetic Predisposition to Breast Cancer and Genetic Counseling and Testing

2008 ◽  
pp. 57-81 ◽  
Author(s):  
Kaylene J. Ready ◽  
Banu K. Arun
Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2729
Author(s):  
Julie Lapointe ◽  
Michel Dorval ◽  
Jocelyne Chiquette ◽  
Yann Joly ◽  
Jason Robert Guertin ◽  
...  

Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants’ understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics.


Breast Care ◽  
2020 ◽  
pp. 1-7
Author(s):  
Julia Dick ◽  
Viktoria Aue ◽  
Simone Wesselmann ◽  
Anne Brédart ◽  
Sylvie Dolbeault ◽  
...  

<b><i>Background:</i></b> In recent years, germline testing of women with a risk of developing breast and ovarian cancer has increased rapidly. This is due to lower costs for new high-throughput sequencing technologies and the manifold preventive and therapeutic options for germline mutation carriers. The growing demand for genetic counseling meets a shortfall of counselors and illustrates the need to involve the treating clinicians in the genetic testing process. This survey was undertaken to assess their state of knowledge and training needs in the field of genetic counseling and testing. <b><i>Methods:</i></b> A cross-sectional survey within the European Bridges Study (Breast Cancer Risk after Diagnostic Gene Sequencing) was conducted among physician members (<i>n</i> = 111) of the German Cancer Society who were primarily gynecologists. It was designed to examine their experience in genetic counseling and testing. <b><i>Results:</i></b> Overall, the study revealed a need for training in risk communication and clinical recommendations for persons at risk. One-third of respondents communicated only relative disease risks (31.5%) instead of absolute disease risks in manageable time spans. Moreover, almost one-third of the respondents (31.2%) communicated bilateral and contralateral risk-reducing mastectomy as an option for healthy women and unilateral-diseased breast cancer patients without mutations in high-risk genes (e.g. <i>BRCA1</i> or <i>BRCA2)</i>. Most respondents expressed training needs in the field of risk assessment models, the clinical interpretation of genetic test results, and the decision-making process. <b><i>Conclusion:</i></b> The survey demonstrates a gap of genetic and risk literacy in a relevant proportion of physicians and the need for appropriate training concepts.


Author(s):  
Christian F. Singer ◽  
Yen Y. Tan ◽  
Christine Rappaport

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.


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 ◽  
Vol 16 (12) ◽  
pp. e1481-e1488
Author(s):  
Stephanie L. Graff ◽  
Jared M. Holder ◽  
Lindsay E. Sears ◽  
Dax Kurbegov

PURPOSE: Genetic counseling and testing (GC/T) for breast cancer–associated genetic mutations are important components in the appropriate management of newly diagnosed breast cancer. We initiated pathways to help appropriately select patients who meet criteria for GC/T referral (GC/T-R) across the Sarah Cannon Cancer Institute Network. This study evaluated physician pathway training as a means to improve access to GC/T-R. METHODS: In this retrospective, observational study, we collected data from 7 regions across 6 states, identifying 3,113 patients eligible for GC/T. Patients were divided into 3 defined cohorts: patients treated before implementation of pathways (n = 988), patients treated by non-pathway physicians after pathways were established (n = 1,094), and patients treated by pathway-trained physicians (n = 1,031). Pathways were established in March 2016. Nurse navigators documented eligible patients who were referred for GC/T within a care coordination software system. RESULTS: Eligible patients were referred for GC/T 71.77% of the time if treated on pathways and only 36.47% of the time if treated off pathways. On-pathway patients eligible for GC/T also received testing referral at a higher rate than pre-pathway patients (21.36%). CONCLUSION: After implementation of pathways and appropriate training of physicians on those pathways, GC/T-R among appropriate patients significantly improved. Pathway training represents a potential solution to improve GC/T-R among patients with breast cancer.


2007 ◽  
Vol 27 (1) ◽  
pp. 109-125 ◽  
Author(s):  
Bettina Meiser ◽  
Clara Gaff ◽  
Claire Julian-Reynier ◽  
Barbara B. Biesecker ◽  
Mary Jane Esplen ◽  
...  

1998 ◽  
Vol 16 (1) ◽  
pp. 133-138 ◽  
Author(s):  
J Audrain ◽  
B Rimer ◽  
D Cella ◽  
J Garber ◽  
B N Peshkin ◽  
...  

PURPOSE To assess preferences for the content and process of genetic counseling and testing for breast-ovarian cancer susceptibility among women at high risk for breast cancer. METHODS Ninety-eight healthy women who had a family history of breast cancer in at least two first-degree relatives participated in a structured telephone survey that evaluated preferences for type of provider and the content and process of pretest education and posttest genetic counseling. RESULTS Forty-two percent of women preferred that pretest education be delivered by a genetic counselor, while 22% preferred an oncologist. This preference was positively associated with a desire to discuss psychosocial issues during the session (P = .001). For posttest counseling, 38% of women preferred an oncologist, while 20% preferred a genetic counselor. However, women who desired supportive counseling during this session were significantly more likely to prefer a genetic counselor to an oncologist (P = .02). Fewer women wished to see a primary care physician or gynecologist for pretest education (11%) or posttest counseling (22%). With regard to the counseling process, 82% of women wished to self-refer for genetic counseling, but 63% desired advice and recommendations about whether to be tested. CONCLUSION When feasible, the optimal approach may be for oncologists to work with genetic counselors to provide pretest education and medical recommendations. Elicitation of patients' preferences may be useful to determine the level of counseling services needed.


Author(s):  
J. A. M van der Giessen ◽  
M. G. E. M. Ausems ◽  
E. van Riel ◽  
A. de Jong ◽  
M. P. Fransen ◽  
...  

Abstract Purpose Due to limited health literacy and resulting ineffective communication between healthcare professionals and patients, not all eligible patients are offered breast cancer genetic counseling and testing. We aimed to develop a plain-language guide to increase effective communication about genetic counseling and testing with breast cancer patients with limited health literacy. Methods Together with oncological healthcare professionals, we drafted a list of jargon words frequently used during (breast) cancer genetic counseling. In a focus group interview with breast cancer counselees with limited health literacy, who had received genetic counseling before, we reformulated these words in plain language. Low-literate individuals, who are not familiar with breast cancer care or genetic counseling, reflected on the draft of the guide. Completeness, acceptability, and perceived usability were tested in an online questionnaire among healthcare professionals. Results The result is a plain-language guide for genetic counseling and testing with 33 frequently used jargon words and a reformulation of these words in plain language. Acceptability and perceived usefulness of the guide among healthcare professionals (n = 58) were high. Conclusion The plain-language guide provides opportunities to facilitate communication about genetic counseling and testing with patients with limited health literacy and could enhance opportunities for patients to make informed decisions to participate in genetic testing. As the intention from healthcare professionals to use the plain-language guide is high, implementation of the guide in a real-life setting seems promising.


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