Search

Telephone and televideo have yielded equivalent patient satisfaction and psychosocial outcomes when compared to in-person genetic counseling, yet little is known about how they compare to one another. In this randomized controlled trial, veterans received genetic counseling via telephone or traveled to a clinic to participate via encrypted televideo. Knowledge and visit satisfaction were assessed 2 weeks later. Travel time, mileage, and out-of-pocket costs were calculated for videoconferencing. Qualitative interviews were conducted with patients and counselors to assess acceptability. Of the 20 male patients randomized to telephone, 90% received counseling and provided outcomes; of the 18 randomized to televideo, 67% received counseling and 50% provided outcomes. Telephone patients answered a mean of 4.4 of eight questions correctly at baseline and 4.7 at follow-up; televideo means were 5.6 and 6.5, respectively. Satisfaction was 25.2 out of 30 for telephone and 26.9 for televideo. Televideo patients incurred a median of 2.8 h of travel time, 40 roundtrip miles, and $67.29 in costs. Patients and counselors found both modes acceptable for providing education and answering questions. Although patients liked the flexibility of telephone, counselors felt patients missed more appointments and were distracted when using telephone. A noted advantage of videoconferencing was reading body language. Further evaluation of alternative delivery modes is needed.

IntroductionDeaf American Sign Language-users (ASL) have limited access to cancer genetics information they can readily understand, increasing risk for health disparities. We compared effectiveness of online cancer genetics information presented using a bilingual approach (ASL with English closed captioning) and a monolingual approach (English text).HypothesisBilingual modality would increase cancer genetics knowledge and confidence to create a family tree; education would interact with modality.MethodsWe used a parallel 2:1 randomized pre-post study design stratified on education. 150 Deaf ASL-users ≥18 years old with computer and internet access participated online; 100 (70 high, 30 low education) and 50 (35 high, 15 low education) were randomized to the bilingual and monolingual modalities. Modalities provide virtually identical content on creating a family tree, using the family tree to identify inherited cancer risk factors, understanding how cancer predisposition can be inherited, and the role of genetic counseling and testing for prevention or treatment. 25 true/false items assessed knowledge; a Likert scale item assessed confidence. Data were collected within 2 weeks before and after viewing the information.ResultsSignificant interaction of language modality, education, and change in knowledge scores was observed (p=.01). High education group increased knowledge regardless of modality (Bilingual: p&nbsp

Guideline-concordant cancer care is a priority within the Department of Veterans Affairs (VA). In 2009, the VA expanded its capacity to treat breast cancer patients within VA medical centers (VAMCs). We sought to determine whether male and female Veterans diagnosed with breast cancer received BRCA testing as recommended by the National Comprehensive Cancer Network (NCCN) guidelines on Genetic/Familial High-Risk Assessment in Breast and Ovarian Cancer (v. 1.2010-1.2012). Using the 2011-2012 VA Central Cancer Registry and BRCA test orders from Myriad Genetics, we conducted a retrospective study. The outcome variable was a recommendation for genetic counseling or BRCA testing, determined by chart review. Independent variables expected to predict testing included region, site of care, and patient characteristics. We performed descriptive analysis of all patients and conducted multivariable logistic regression on patients who sought care at VAMCs that offered BRCA testing. Of the 462 Veterans who met NCCN testing criteria, 126 (27 %) received guideline-concordant care, either a referral for counseling or actual testing. No BRCA testing was recommended in 49 (50 %) VAMCs that provide cancer treatment. Surprisingly, patients with second primary breast cancer were less likely to be referred/tested (OR 0.39; CI 0.17, 0.89; p = 0.025). For patients under age 51, a yearly increase in age decreased likelihood of referral or testing (OR 0.85; CI 0.76, 0.94; p

Animal experiments support the hypothesis that the metastatic potential of breast cancer is a heritable trait of the host. Our objective was to evaluate correlations in metastasis occurrence in large families with multiple cases of breast cancer. We evaluated correlation among pairs of relatives in the occurrence and timing of distant metastasis using retrospective cohort data from 743 female breast cancer patients in 242 families. We adjusted for correlation in their age at diagnosis, year of diagnosis, educational level, lymph node involvement, and estrogen receptor status. Distant metastasis occurred in 255 patients (34.3%) during mean followup of 11.7 years. None of the correlation coefficients for metastasis in blood relatives differed significantly from zero. The estimated correlation coefficient in first-degree relatives was -0.03 (95% confidence interval -0.11 to 0.06). These findings suggest that a family history of metastatic breast cancer does not contribute substantially to risk of metastasis for breast cancer patients.

Background Cigarette smoke contains compounds that may damage DNA, and the repair of damage may be impaired in women with germline mutations in BRCA1 or BRCA2. However, the effect of cigarette smoking on breast cancer risk in mutation carriers is the suoject or conflicting reports. We have examined the relation between smoking and breast cancer risk in non-Hispanic white women under the age of 50 years who carry a deleterious mutation in BRCA1 or BRCA2. Methods We conducted a case-control study using data from carriers of mutations in BRCA1 (195 cases and 302 controls) and BRCA2 (128 cases and 179 controls). Personal information, including smoking history, was collected using a common structured questionnaire by eight recruitment sites in four countries. Odds-ratios (OR) for breast cancer risk according to smoking were adjusted for age, family history, parity, alcohol use, and recruitment site. Results Compared to non-smokers, the OR for risk of breast cancer for women with five or more pack-years of smoking was 2.3 (95% confidence interval 1.6-3.5) for BRCA1 carriers and 2.6 (1.8-3.9) for BRCA2 carriers. Risk increased 7% per pack-year (p < 0.001) in both groups. Conclusions These results indicate that smoking is associated with increased risk of breast cancer before age 50 years in BRCA1 and BRCA2 mutation carriers. If confirmed, they provide a practical way for carriers to reduce their risks. Previous studies in prevalent mutation carriers have not shown smoking to increase risk of breast cancer, but are subject to bias, because smoking decreases survival after breast cancer.

This study examined the impact of a genetics education module provided by Reach to Recovery peer volunteers. Participants included 113 women with confirmed breast cancer diagnoses. Eighty-eight of these women (78%) completed a baseline survey, participated in a peer-led intervention, and completed a follow-up survey. Approximately half of the women received an education module that included a genetic component, while the other half did not. Results indicated that women who received the genetics module had greater increases in genetics knowledge than the group that did not receive the module. However, follow-up interest in genetic testing was not significantly different between the two groups. Results indicate that a peer-led genetics module can increase knowledge about genetics. However, it does not appear to have a differential effect on genetic testing interest.

Although enhanced colorectal surveillance is recommended for members of familial adenomatous polyposis (FAP) families, little is known about individual-level adherence behavior. This study examined factors associated with recent use of colorectal cancer (CRC) surveillance among FAP patients and their at-risk relatives.This cross-sectional study conducted a computer-assisted telephone survey among 150 members of 71 extended families with classic (FAP) or attenuated adenomatous polyposis (AFAP). Participants were enrolled in a university-based hereditary CRC registry or were first-degree relatives of enrollees. Both qualitative and quantitative data were collected and analyzed.Surveillance behavior varied by disease status. Fifty-four percent of 71 participants with a personal history of FAP and 42% of 79 at-risk relatives reported recent use of CRC surveillance recommendations. In multiple logistic regression analysis, lack of patient recall of provider recommendation for an endoscopic examination of the colon (OR 4.8, 95% CI 1.8-13.1), lack of health insurance or no reimbursement for CRC surveillance (OR 3.6, 95% CI 1.2-10.5), and/or the belief that their relative risk of CRC is not increased (OR 3.1, 95% CI 1.2-7.1) were independently associated with not having had a recent colonoscopy or sigmoidoscopy.Despite the known benefits of CRC surveillance, a substantial proportion of FAP family members did not have a recent colonoscopy or endoscopy. Interventions targeted at both clinicians and patients are needed to improve surveillance behavior. These data are also important in designing decision support tools to assist clinicians in identifying and managing high-risk patients.

Objectives To describe the currently available genetic tests that identify hereditary risk for breast cancer. Data Sources Systematic review of scientific literature, clinical practice guidelines, and data published by test manufacturers. Conclusion Changes in gene patent laws and advances in sequencing technologies have resulted in rapid expansion of genetic testing. While BRCA1/2 are the most recognized genes linked to breast cancer, several laboratories now offer multi-gene panels to detect many risk-related mutations. Implications for Nursing Practice Genetic testing will be increasingly important in the prevention, diagnosis, and treatment of breast cancer. Oncology and advanced practice nurses must understand risk factors, significance of various genetic tests, and patient counseling.

We report a case involving the disclosure of BRCA1 mutation results to a woman who had placed a child for adoption 30 years prior to learning her mutation status. The disclosure of the mother's genetic test result to the son resulted in unexpected subsequent communications. This article briefly describes the experience and discusses the unique issues that arise in counseling a parent who has relinquished a child who is subsequently at risk to inherit a mutation for an adult onset genetic condition. © 2003 Wiley-Liss, Inc.

Pancreatic cancer is the fourth most common cancer in both men and women in the United States. It has the lowest survival rate of all cancers, largely due to the presence of non-specific symptoms, leading to diagnosis at advanced stages. While the majority of cases of pancreatic cancer are sporadic, up to 10% may be associated with an inherited predisposition. Currently, there is no standard screening protocol for pancreatic cancer, although this will change in the future as technology improves. Additionally, there is little information regarding the perceptions and intent to screen for pancreatic cancer among those with an increased risk due to a hereditary cancer predisposition syndrome, which was the objective of this study. Focus groups and individual telephone interviews were conducted, with questions focused on knowledge about pancreatic cancer and screening, perceived motivators, and perceived barriers related to each of the screening techniques currently available. Participants were recruited from the High Risk Breast Cancer and Pancreatic Cancer Registries at Huntsman Cancer Institute. The findings of this study indicated that individuals from these high-risk groups have low knowledge levels of pancreatic cancer screening, despite their desire for this information. Motivation to undergo a particular screening technique is related to whether the test is recommended by a physician, cost, degree of invasiveness, and comfort level. This information is useful to genetics professionals who counsel at-risk individuals, physicians who formulate patient care plans, and translational researchers who are developing pancreatic screening methods.

The educational and counseling models are often touted as the two primary professional approaches to genetic counseling practice. Yet, research has not been conducted to examine how these approaches are used in practice. In the present study, we conducted quantitative communication analyses of BRCA1 genetic counseling sessions. We measured communication variables that represent content (e.g., a biomedical focus) and process (e.g., passive listening) to explore whether genetic counselor approaches are consistent with prevailing professional models. The Roter Interaction Analysis System (RIAS) was used to code 167 pre-test genetic counseling sessions of members of a large kindred with an identified BRCA1 mutation. Three experienced genetic counselors conducted the sessions. Creating composite categories from the RIAS codes, we found the sessions to be largely educational in nature with the counselors and clients devoting the majority of their dialogue to providing biomedical information (62 and 40%, respectively). We used cluster analytic techniques, entering the composite communication variables and identified four patterns of session communication: Client-focused psychosocial, biomedical question and answer, counselor-driven psychosocial, and client-focused biomedical. Moreover, we found that the counselors had unique styles in which they combined the use of education and counseling approaches. We discuss the importance of understanding the variation in counselor communication to advance the field and expand prevailing assumptions.

Patients and practitioners may believe that clinically validated laboratory tests provide definitive information. Genetic counselors know this is not always so, and the possibility of inconclusive genetic test results is often discussed in the pretest counseling session. This added discussion topic prolongs the process of genetic counseling, but if there is inadequate patient understanding, patient frustration may be high when receiving a result of uncertain significance, and patients may make decisions about subsequent medical management based on incorrect assumptions. For patients/participants in a research setting, where the clinical validity of testing may be unclear, some patients/participants may still want to use test results to influence their medical management. This paper presents findings from a qualitative study wherein 15 women from the High Risk Breast Cancer Clinic at Utah's Huntsman Cancer Institute discussed how uncertainty regarding results affected their decision making. The women were randomly selected from 3 categories--women with test results of uncertain significance; women without cancer who have a mutation; and women who are members of high-risk families, but for whom no mutation was found. Study findings will be used in future studies to better understand how to improve communication regarding uncertain results, especially in a research environment.

The etiology of familial breast cancer is complex and involves genetic and environmental factors such as hormonal and lifestyle factors. Understanding familial aggregation is a key to understanding the causes of breast cancer and to facilitating the development of effective prevention and therapy. To address urgent research questions and to expedite the translation of research results to the clinical setting, the National Cancer Institute (USA) supported in 1995 the establishment of a novel research infrastructure, the Breast Cancer Family Registry, a collaboration of six academic and research institutions and their medical affiliates in the USA, Canada, and Australia. The sites have developed core family history and epidemiology questionnaires, data dictionaries, and common protocols for biospecimen collection and processing and pathology review. An Informatics Center has been established to collate, manage, and distribute core data. As of September 2003, 9116 population-based and 2834 clinic-based families have been enrolled, including 2346 families from minority populations. Epidemiology questionnaire data are available for 6779 affected probands (with a personal history of breast cancer), 4116 unaffected probands, and 16,526 relatives with or without a personal history of breast or ovarian cancer. The biospecimen repository contains blood or mouthwash samples for 6316 affected probands, 2966 unaffected probands, and 10,763 relatives, and tumor tissue samples for 4293 individuals. This resource is available to internal and external researchers for collaborative, interdisciplinary, and translational studies of the genetic epidemiology of breast cancer. Detailed information can be found at the URL http://www.cfr.epi.uci.edu/ .

Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer in carrier women. An understanding of behavioral responses to BRCA1 mutation testing by mutation carriers and non-carriers is important to guide the clinical application of this new technology. This study examined the utilization of genetic testing for a BRCA1 mutation in high-risk individuals and the response of tested women with respect to interventions for early cancer detection and prevention. This study assessed the utilization of genetic testing for both men and women in a large kindred and the behavioral responses by women with respect to use of health care interventions during the 2 years following testing. Participants were offered BRCA1 mutation testing. Surveillance behaviors related to breast and ovarian cancer were assessed by computer-assisted telephone interviews at baseline (prior to genetic counseling and testing), 1-2 weeks, 4-6 months, 1 and 2 years after the provision of test results. Mutation carriers, non-carriers, and individuals of unknown mutation status were compared to determine the impact of test results. Utilization of genetic testing for both men and women are reported and, for women, mammography, breast self-exam, clinical breast exam, mastectomy, oophorectomy, transvaginal ultrasound, and CA125 screening were assessed. Of those fully informed of the opportunity for testing, 55% of the women and 52% of the men pursued genetic testing. With respect to mammography for women 40 years and older, 82% of mutation carriers obtained a mammogram in each year following testing compared to 72% of non-carrier women the first year and 67% the second year. This mammography utilization represents a significant increase over baseline for both mutation carriers and non-carriers. Younger carrier women also significantly increased their mammography utilization from baseline. Overall, 29% of the carrier women did not obtain a single mammogram by 2 years post-testing. At 2 years, 83% of the carrier women and 74% of the non-carriers reported adherence to recommendations for breast self-exam and over 80% of carrier women had obtained a clinical breast examination each year following testing. None of the carrier women had obtained a prophylactic mastectomy by 2 years after testing, although 11% were considering this procedure. Of carrier women 25 years of age and older who had at least one intact ovary at the time of testing, 46% of carriers had obtained an oophorectomy 2 years after testing, including 78% of women 40 years of age and older. The majority of carrier women (73%) had discussed their genetic test results with a medical doctor or health care provider. Our results indicate utilization of genetic testing by a majority of high-risk individuals who received information about testing. Both carriers and non-carriers increased their utilization of mammography and breast self-exam following testing. Oophorectomy was obtained by a large proportion of carrier women in contrast to mastectomy which was not utilized within the first 2 years following testing.

PURPOSE Previous studies of mutations in BRCA1 or BRCA2 have used detection methods that may underestimate the actual frequency of mutations and have analyzed women using heterogeneous criteria for risk of hereditary cancer. PATIENTS AND METHODS A total of 238 women with breast cancer before age 50 or ovarian cancer at any age and at least one first- or second-degree relative with either diagnosis underwent sequence analysis of BRCA1 followed by analysis of BRCA2 (except for 27 women who declined analysis of BRCA2 after a deleterious mutation was discovered in BRCA1). Results were correlated with personal and family history of malignancy. RESULTS Deleterious mutations were identified in 94 (39%) women, including 59 of 117 (50%) from families with ovarian cancer and 35 of 121 (29%) from families without ovarian cancer. Mutations were identified in 14 of 70 (20%) women with just one other relative who developed breast cancer before age 50. In women with breast cancer, mutations in BRCA1 and BRCA2 were associated with a 10-fold increased risk of subsequent ovarian carcinoma (P = .005). CONCLUSION Because mutations in BRCA1 and BRCA2 in women with breast cancer are associated with an increased risk of ovarian cancer, analysis of these genes should be considered for women diagnosed with breast cancer who have a high probability of carrying a mutation according to the statistical model developed with these data.