Genetic counseling and testing of an underserved population at a large city hospital.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 38-38
Author(s):  
Kathie-Ann P. Joseph ◽  
Shubhada Dhage ◽  
Kenneth Rifkind
Keyword(s):  
Genetic Counseling ◽  
High Risk ◽  
Low Income ◽  
Breast Surgery ◽  
Personal History ◽  
Counseling And Testing ◽  
Number Of Patients ◽  
Risk Patients ◽  
History Of ◽  
Racial Ethnic

38 Background: Genetic counseling and testing for hereditary breast and ovarian cancer is underutilized in low-income and racial/ethnic women. We examine the number of patients referred for genetic counseling over from 2011-2012, clinic referral pattern, and number of patients tested in a population of largely underserved, immigrant patient population. Methods: The study was conducted in Bellevue Hospital. A retrospective review of patients referred to this institution’s high-risk clinic was analyzed. Demographics, insurance status, BRCA status, if tested, and source of referral were collected. Results: Between 2011-2012, 196 patients were referred for genetic counselling. The majority of the referrals came from specialty clinics: Breast Surgery (42%), Medical Oncology (24%) and Gyn (8.7%). 17.5% were classified as other. One percent of consults came from internal medicine, 0.5% from women’s clinic, 4% were referred from family members. Of those patients counseled, 83 were tested. Breast surgery had the highest yield with 49% of the patients tested, followed by med onc (33%). One patient refused testing. Forty-seven of our patients were able to receive genetic testing through Myriad hardship, thirty-three through Medicaid, two paid by Bellevue Hospital, and one by private insurance. Five patients were BRCA1 positive, five patients were BRCA2 positive (12% of patients tested); An additional five patients were BRCA2 MUS. Racial/ethnic breakdown of the BRCA positive patients were 40% Asian, 20% Latina, 30% African American, 10% White. Four patients had a personal history of BrCa, two patients personal history of OvCa, one patient personal history of BCa/OvCa, and three patients FHBCa/OvCa. Conclusions: Genetic testing for HBOC can be underutilized in low-income and racial/ethnic women due to lack of insurance and lack of education. It is possible to get many high-risk women tested and most patients are receptive to testing when the benefits of testing are clearly explained. Our results indicate that while cancer specialists are referring high-risk patients, there may be room for education on the part of primary care specialists to refer more unaffected high risk patients. This may afford patients the opportunity to make better informed screening and treatment decisions.

scholarly journals Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy

Cancers ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2386
Author(s):  
Joan Llach ◽  
Lorena Moreno ◽  
Ariadna Sánchez ◽  
Cristina Herrera-Pariente ◽  
Teresa Ocaña ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
High Risk ◽  
Cancer Diagnosis ◽  
Diagnostic Yield ◽  
Familial Cancer ◽  
Immunohistochemical Analysis ◽  
Personal History ◽  
Clinical Criteria ◽  
Hereditary Syndrome ◽  
History Of

The identification of high-risk groups of gastric (GC) and pancreatic adenocarcinoma (PC) due to a hereditary basis could imply a benefit in the affected families by establishing personalized preventive strategies. We aimed at assessing the diagnostic yield of GC/PC hereditary syndromes in individuals evaluated based on specific clinical criteria. In total, 77 unrelated individuals (45 from GC group/32 from PC group) were recruited: 51 (66.2%) cancer diagnosis ≤60 years, 3 (4%) with personal history of GC/PC and other cancer and 23 (29.8%) due to family history. Immunohistochemical analysis of DNA mismatch repair proteins was performed in 38 (49.3%) available tumors, being pathological in one (2%) GC. A genetic analysis was performed if clinical criteria of hereditary syndrome were fulfilled, identifying a mutation in 10/22 (45.5%) families [7/16 (43.7%) with GC and 3/6 (50%) with PC] and 19 (24.7%) fulfilled criteria of familial cancer. Diagnosis of cancer <40 years and personal history of other cancers were independent risk factors of a hereditary syndrome [OR:11.3 (95%IC 1.9–67); p = 0.007 and OR:17.4 (95% IC 2.5–119.9); p = 0.004; respectively]. The selection of patients based on clinical criteria leads to high diagnostic yield, detecting a causative germline mutation in almost half of the cases; therefore, both meticulous genetic counseling and use of multi-gen panels is crucial.

scholarly journals A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene Study

Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2729
Author(s):  
Julie Lapointe ◽  
Michel Dorval ◽  
Jocelyne Chiquette ◽  
Yann Joly ◽  
Jason Robert Guertin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Evidence Base ◽  
Annual Number ◽  
Breast And Ovarian Cancer ◽  
Patient Centered ◽  
Collaborative Model ◽  
Counseling And Testing ◽  
Number Of Patients

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.

scholarly journals Novel and Recurrent BRCA1/BRCA2 Germline Mutations in Patients with Breast /Ovarian Cancer: A Series from the South of Tunisia

2020 ◽  
Author(s):  
Dorra Ben Ayed-Guerfali ◽  
Wala Ben Kridis-Rejab ◽  
Nihel Ammous-Boukhris ◽  
Wajdi Ayadi ◽  
Slim Charfi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Germline Mutations ◽  
Brca Mutations ◽  
Mutation Carriers ◽  
Counseling And Testing ◽  
Recurrent Mutations ◽  
Tunisian Patients ◽  
History Of ◽  
Brca1 Brca2

Abstract Background: The incidence of breast/ovarian cancer is increasing in Tunisia especially in young women and mostly those with family history. However, the spectrum of BRCA mutations remains little explored in Tunisian patients in particular in the southern region. Methods: We sequenced the entire coding regions of BRCA1and BRCA2 genes using Next Generation Sequencing (NGS) in 134 selected patients with breast/ovarian cancer. Results: Among the 134 patients, 19 (14.17%) carried pathogenic mutations (10 are BRCA1 mutation carriers and 9 are BRCA2 mutation carriers) that are mainly frameshisft indel (76.9%). Interestingly, 5 out of the 13 variants (38.46%) were found at least twice in unrelated patients, as the c.1310-1313 delAAGA in BRCA2 and the c.5030_5033 delCTAA that has been identified in 4/98 BC patients and in 3/15 OC patients from unrelated families with strong history of cancer. Besides recurrent mutations, 6 variant (4 in BRCA1 and 2 in BRCA2) were not reported previously. Furthermore, 3 unrelated patients carried the VUS c.9976A>T, (K3326*) in BRCA2 exon 27. BRCA carriers correlated significantly with tumor site (p=0.029) and TNBC cases (p=0.008). In the groups of patients (31-40 y and 41-50 y), BRCA1 mutations occurred more frequently in patients with OC than those with BC, and conversely BRCA2 carriers are mostly affected with BC (p=0.001 and p=0.044 respectively).Conclusions: The overall frequency of the BRCA germline mutations was 14.17% in patients with high risk of breast /ovarian cancer. We identified recurrent mutations as the c.1310_1313 delAAGA in BRCA2 gene and the c.5030_5033 delCTAA in BRCA1 gene that were found in 4% and 20% of familial BC and OC respectively. Our data will contribute in the implementation of genetic counseling and testing for families with high-risk of breast/ovarian cancer.

scholarly journals Natural History of Thoraco-abdominal Aneurysm in High-Risk Patients

2010 ◽  
Vol 51 (3) ◽  
pp. 785
Author(s):  
P.A. Hansen ◽  
J.M.J. Richards ◽  
A.L. Tambyraja ◽  
L.R. Khan ◽  
R.T.A. Chalmers
Keyword(s):  
High Risk ◽  
Natural History ◽  
Abdominal Aneurysm ◽  
High Risk Patients ◽  
Risk Patients ◽  
History Of

scholarly journals Natural history of pT3-4 or node positive bladder cancer treated with radical cystectomy and no neoadjuvant chemotherapy in a contemporary North-American multi-institutional cohort

2012 ◽  
Vol 6 (6) ◽  
pp. 217 ◽  
Author(s):  
Nicholas E. Power ◽  
Wassim Kassouf ◽  
David Bell ◽  
Armen Aprikian ◽  
Yves Fradet ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
High Risk ◽  
Adjuvant Chemotherapy ◽  
Neoadjuvant Chemotherapy ◽  
Natural History ◽  
Radical Cystectomy ◽  
Node Positive ◽  
Number Of Patients ◽  
History Of ◽  
Modern Era

Background: The present study documents the natural history and outcomes of high-risk bladder cancer after radical cystectomy (RC) in patients who did not receive neoadjuvant chemotherapy during a contemporary time period.Methods: We analyzed 1180 patients from 1993 to 2008 with >pT3N0 or pT0-4N+ bladder cancer who underwent RC ± standard (sLND) or extended (eLND) lymph node dissection from 8 Canadian centres.Results: Of the 1180 patients, 55% (n = 643) underwent sLND, 34% (n = 402) underwent ePLND and 11% did not undergo a formal LND. Of the total number of patients, 321 (27%) received adjuvant chemotherapy. The median follow-up was 2.1 years (range: 0.6 to 12.9). Overall 30-day mortality was 3.2%. Clinical and pathological stages T3-4 were present in 6.1% and 86.7% of the patients, respectively; this demonstrates a dramatic understaging. Overall survival (OS) at 2 and 5 years was 60% and 43%, respectively. Patients who received adjuvant chemotherapy hada 2- and 5-year disease-specific survival (DSS) of 72% and 57% versus 64% and 51% for those who did not (log-rank p = 0.0039). The 2- and 5-year OS for high-risk node-negative disease was 67%and 52%, respectively, whereas for node-positive patients, the OS was 52% and 32%, respectively (p < 0.001). The OS, DSS and RFS for patients with pN0 were significantly improved compared to those who did not undergo a LND (log-rank p = 0.0035, 0.0241 and 0.0383, respectively).Interpretation: This series suggests that bladder cancer outcomes inadvanced disease have improved in the modern era. The need for improved staging investigations, use of neoadjuvant chemotherapyand performance of complete LND is emphasized.

scholarly journals Re-operation within 30 days of radical cystectomy: Identifying high-risk patients and complications using ACS-NSQIP database

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Rashid K. Sayyid ◽  
Diana Magee ◽  
Amanda E. Hird ◽  
Benjamin T. Harper ◽  
Eric Webb ◽  
...  
Keyword(s):  
Risk Factors ◽  
Bladder Cancer ◽  
African American ◽  
High Risk ◽  
Radical Cystectomy ◽  
High Risk Patients ◽  
Metastatic Bladder Cancer ◽  
Risk Patients ◽  
History Of ◽  
African American Race

Introduction: Radical cystectomy (RC) is a highly morbid procedure, with 30-day complication rates approaching 31%. Our objective was to determine risk factors for re-operation within 30 days following a RC for non-metastatic bladder cancer. Methods: We included all patients who underwent a RC for non-metastatic bladder cancer using The American College of Surgeons National Surgical Quality Improvement Program database between January 1, 2007 and December 31, 2014. Logistic regression analyses were used to evaluate predictors of re-operation. Results: A total of 2608 patients were included; 5.8% of patients underwent re-operation within 30 days. On multivariable analysis, increasing body mass index (BMI) (odds ratio [OR] 1.04; 95% confidence interval [CI] 1.01–1.07), African-American race (vs. Caucasian OR 2.29; 95% CI 1.21–4.34), and history of chronic obstructive pulmonary disease (COPD) (OR 2.33; 95% CI 1.45–3.74) were significant predictors of re-operation within 30 days of RC. Urinary diversion type (ileal conduit vs. continent) and history of chemotherapy or radiotherapy within 30 days prior to RC were not. Patients who underwent re-operation within this timeframe had a significantly higher mortality rate (4.0% vs. 1.6%) and were more likely to experience cardiac (7.2% vs. 1.9%), pulmonary (23.0% vs. 3.0%), neurological (2.0% vs. 0.49%), and venous thromboembolic events (10.5% vs. 5.4%), as well as infectious complications (64.5% vs. 24.1%) with a significantly longer hospital length of stay (16.5 vs. 7.0 days). Conclusions: Recognizing increasing BMI, COPD, and African-American race as risk factors for re-operation within 30 days of RC will allow urologists to preoperatively identify such high-risk patients and prompt them to adopt more aggressive approaches to minimize postoperative surgical complications.

scholarly journals Expression ofFOXP3,CD14, andARG1in Neuroblastoma Tumor Tissue from High-Risk Patients Predicts Event-Free and Overall Survival

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Sara Stigliani ◽  
Michela Croce ◽  
Fabio Morandi ◽  
Paola Scaruffi ◽  
Valentina Rigo ◽  
...  
Keyword(s):  
Overall Survival ◽  
High Risk ◽  
Immune Status ◽  
Primary Tumors ◽  
Neuroblastoma Tumor ◽  
Elevated Expression ◽  
Risk Patients ◽  
History Of ◽  
Low Levels ◽  
Positive Correlations

The prognosis of children with metastatic neuroblastoma (NB) > 18 months at diagnosis is dismal. Since the immune status of the tumor microenvironment could play a role in the history of disease, we evaluated the expression ofCD45,CD14,ARG1,CD163,CD4,FOXP3,Perforin-1(PRF1),Granzyme B (GRMB), andIL-10mRNAs in primary tumors at diagnosis from children with metastatic NB and tested whether the transcript levels are significantly associated to event-free and overall survival (EFS and OS, resp.). Children with high expression ofCD14,ARG1andFOXP3mRNA in their primary tumors had significantly better EFS. Elevated expression ofCD14, andFOXP3mRNA was significantly associated to better OS.CD14mRNA expression levels significantly correlated to all markers, with the exception ofCD4. Strong positive correlations were found betweenPRF1andCD163, as well as betweenPFR1andFOXP3. It is worth noting that the combination of high levels ofCD14,FOXP3, andARG1mRNAs identified a small group of patients with excellent EFS and OS, whereas low levels ofCD14were sufficient to identify patients with dismal survival. Thus, the immune status of the primary tumors of high-risk NB patients may influence the natural history of this pediatric cancer.

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