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This research project is aimed at examining psychological distress and processing of information associated with risk for breast cancer. Understanding the types and magnitude of women's distress and impaired processing of cancer-related information is critical because cancer-related distress has been associated with poorer compliance with screening behaviors, and impaired processing of cancer information may decrease women's knowledge and understanding of (and hence, compliance with) recommended screening guidelines. These concerns may be particularly salient among women who attend genetic counseling, as they receive complex, and oftentimes distressing information about their risk for the disease. To date, our findings indicate that women with family histories reported higher levels of cancer specific intrusive thoughts and avoidance, higher levels of initial vigilance to cancer stimuli, and interestingly, poorer memory for those stimuli, than did women without family histories of the disease. We found a similar pattern of findings when examining objective risk for breast cancer (Gail Model). Findings are important in that they raise the possibility that there may real-world deficits in the processing of information related to cancer among women who receiving information critical to their health care at an acutely distressing time (i.e., physician's or genetic counselor's office).
Recent molecular studies have identified two large genes, BRCAl on chromosome 17 and BRCA2 on chromosome 13; mutations in these genes are now thought to be responsible for the majority of breast cancer cases in families with four or more affected relatives (Ford et al., 1995). Depending on the population studied, women with mutation in BRCAl/2 have 40% to 85% cumulative risk of developing breast cancer and 5% to 60% cumulative risk of developing ovarian cancer (Struewing et al., 1997; Whittemore et al., 1997; Schrag et al., 1997). There are several benefits associated with genetic testing for breast cancer susceptibility (Baum et al., 1997). For example, women found to be mutation carriers can increase the probability that breast cancer will be detected at early stage by increasing their breast cancer surveillance behavior and women who learn that they do not carry a cancer-predisposition mutation may experience relief and improvements in quality of life (Baum et al., 1997). However, genetic testing can also have adverse psychological consequences including loss of insurance, stigmatization, and increased psychological distress (Croyle et al., 1997; Bankowski et al., 1991, Holtzman, 1989). Most of the studies of the impact of counseling and genetic testing have.
This systematic review is an update of the evidence for the U.S. Preventive Services Task Force (USPSTF) on the effectiveness and adverse effects of risk assessment, genetic counseling, and genetic testing for breast cancer susceptibility gene (BRCA)–related cancer in women who do not have cancer but are potentially at increased risk. Its purpose is to evaluate and summarize evidence addressing specific key questions important to the USPSTF as it considers new recommendations for primary care practice. In 2005, based on results of a previous review, the USPSTF recommended against routine referral for genetic counseling or routine BRCA testing for women whose family histories are not associated with increased risks for deleterious mutations in breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA2) (D recommendation). The USPSTF also recommended that women whose family histories are associated with increased risks for mutations in the BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing (B recommendation). The USPSTF concluded that the potential harms of routine referral for genetic counseling or BRCA mutation testing in women without family history risk outweigh the benefits, and that the benefits of referring women with family history risk to suitably trained health care providers outweigh the harms. Benefits included improved accuracy of risk assessment and pretest probability for testing and improved patient knowledge, risk perception, and psychological and health outcomes. Potential harms included inaccurate risk assessment; inappropriate testing; misinterpretation of test results; and ethical, legal, and social implications; among others. The 2005 USPSTF recommendation was intended for the primary prevention of cancer and applied to women without previous diagnoses of breast or ovarian cancer, consistent with the USPSTF scope of preventive care for the general population. Recommendations for men and women with cancer were not included. The 2005 USPSTF recommendation is included in the Affordable Care Act for covered preventive services, and provided the basis for a Healthy People 2020 objective to increase the proportion of women with family histories of breast or ovarian cancer who receive genetic counseling. The previous systematic review identified several research limitations and evidence gaps. The review concluded that a primary care approach to genetic risk assessment and BRCA mutation testing had not been evaluated, and evidence was lacking to determine the benefits and harms of this approach for women without cancer. Risk assessment, genetic counseling, and mutation testing did not cause adverse psychological outcomes, and counseling improved distress and risk perception in the highly-selected populations studied. Studies of intensive cancer screening approaches, such as earlier and more frequent mammography, were inconclusive. Trials of risk-reducing medications, such as tamoxifen and raloxifene, reported reduced breast cancer incidence in women with varying baseline levels of risk compared with placebo, but also increased adverse effects. Observational studies of risk-reducing mastectomy and salpingooophorectomy reported reduced breast and ovarian cancer outcomes in women who were mutation carriers.
This study examined the impact of genetic testing for breast-ovarian cancer susceptibility on marital relationships and the quality of life of partners, as well as an examination of how partner responses influence participant distress during the testing process. Participants were members of families in which a disease conferring mutation was been identified and their partners of either gender. Interviews of couples were completed by telephone prior to receiving test results, as well as 1-, 6-, and 12-months after test disclosure. Results indicated that participants who received negative results report decreases in IES scores over the six month period after disclosure of test results, while participants notified that they were carriers of the BRCA genes did not show a significant decrease in IES scores over the same time period. Partners did not evidence significant changes in either distress. Participants who rated higher levels of relationship strain associated with the testing process reported significantly more distress. Participants who rated their partners as responding in an unsupportive manner also reported more distress. Results suggested that the psychological impact of genetic testing on spouses was not significant. However, how partners respond plays a key role in how testing participants handle the genetic testing process.
In Meeting Psychosocial Needs of Women with Breast Cancer, the National Cancer Policy Board of the Institute of Medicine examines the psychosocial consequences of the cancer experience. The book focuses specifically on breast cancer in women because this group has the largest survivor population (over 2 million) and this disease is the most extensively studied cancer from the standpoint of psychosocial effects. The book characterizes the psychosocial consequences of a diagnosis of breast cancer, describes psychosocial services and how they are delivered, and evaluates their effectiveness. It assesses the status of professional education and training and applied clinical and health services research and proposes policies to improve the quality of care and quality of life for women with breast cancer and their families. Because cancer of the breast is likely a good model for cancer at other sites, recommendations for this cancer should be applicable to the psychosocial care provided generally to individuals with cancer. For breast cancer, and indeed probably for any cancer, the report finds that psychosocial services can provide significant benefits in quality of life and success in coping with serious and life-threatening disease for patients and their families.
Waiting for Cancer to Come tells the stories of women who are struggling with their high risk for cancer. Based on interviews and surveys of dozens of women, this book pieces together the diverse yet interlocking experiences of women who have tested positive for the BRCA 1/2 gene mutations, which indicate a higher risk of developing breast and ovarian cancer. Sharlene Hesse-Biber brings these narratives to light and follows women’s journeys from deciding to get screened for BRCA, to learning the test has come back positive, to dealing with their risk. Many women already know the challenges of a family history riddled with cancer and now find themselves with the devastating knowledge of their own genetic risk. Using the voices of the women themselves to describe the under-explored BRCA experience, Waiting for Cancer to Come looks at the varied emotional, social, economic, and psychological factors at play in women’s decisions about testing and cancer prevention.
The discovery of the two inherited susceptibility genes BRCA1 and BRCA2 in the mid-1990s created the possibility of predictive genetic testing and led to the establishment of specific medical programmes for those at high risk of developing breast cancer in the UK, US and Europe. The book provides a coherent structure for examining the diversity of practices and discourses that surround developments linked to BRCA genetics, and to the evolving field of genetics more broadly. It will be of interest to students and scholars of anthropology, sociology, history of science, STS, public health and bioethics. Chapter 8 of this book is freely available as a downloadable Open Access PDF at http://www.taylorfrancis.com under a Creative Commons Attribution-Non Commercial-No Derivatives (CC-BY-NC-ND) 3.0 license.
About 5-10% of all breast cancer cases are attributable to germline mutations in BRCA1 or BRCA2 genes. Another type of cancer associated with germline mutations in the BRCA1 and BRCA2 tumor suppressor genes, is ovarian cancer.Positive results in the genetic test may produce important changes in the way patients perceive themselves and their family, it may have effects on personal identity, generate a sense of guilty toward family and a feeling of indeterminacy with depressive mood and fear of social discrimination.This is why Oncogenetic Counseling requires an interdisciplinary intervention: the contribution of psychology is, inside an integrated work, to prevent and manage dysfunctional psychological reactions to the genetic test, so that involved people can make informed and aware decisions about the preventive actions.The aim of this intervention-research is to identify how socio-demographic and psychological variables influence the decision making between prophylactic surgery actions (prophylactic salpingo-oophorectomy and/or prophylactic mastectomy) and intensive instrumental surveillance; to evaluate the efficacy of psychological support in decision making and increasing awareness about the choice felt most appropriate.This is a longitudinal study, with 4 measurements: Time0 - Pre-test u2013 when patients receive informations about the gene test and decide if they want to continue, the aim is to assess patientsu2019 present condition; Time1 - Post-test, when patients receive the result of the gene test, to evaluate the Decision Making in positive and negative people, positive ones begin an individual psychological support; Time2 (after 6 months) to evaluate the efficacy of psychological support for involved patiens; Time3 (after 12 months) it is the time the psychological support end, the aim is to evaluate the efficacy of the procedure comparing who participated and who did not participate.The psychometric instruments used at each measurement are: Distress thermometer and Problem checklist, a self-report measure using an 11-point scale from 0 (no distress) to 10 (extreme distress). On the same page is an associated problem checklist, which asks whether the indicated level of distress is related to practical, family, emotional, spiritual or religious, or physical concerns; DSM-5 Self-Rated Level 1 Cross-Cutting Symptom Measureu2014Adult.
BACKGROUND: Pathogenic mutations in breast cancer susceptibility genes BRCA1 and BRCA2 increase risks for breast, ovarian, fallopian tube, and peritoneal cancer in women; interventions reduce risk in mutation carriers. PURPOSE: To update the 2013 U.S. Preventive Services Task Force review on benefits and harms of risk assessment, genetic counseling, and genetic testing for BRCA1/2-related cancer in women. DATA SOURCES: Cochrane libraries; MEDLINE, PsycINFO, EMBASE (January 1, 2013 to March 6, 2019 for updates; January 1, 1994 to March 6, 2019 for new key questions and populations); reference lists. STUDY SELECTION: Discriminatory accuracy studies, randomized controlled trials (RCTs), and observational studies of women without recently diagnosed BRCA1/2-related cancer. DATA EXTRACTION: Data on study methods; setting; population characteristics; eligibility criteria; interventions; numbers enrolled and lost to followup; outcome ascertainment; and results were abstracted. Two reviewers independently assessed study quality. DATA SYNTHESIS (RESULTS): 103 studies (110 articles) were included. No studies evaluated the effectiveness of risk assessment, genetic counseling, and genetic testing in reducing incidence and mortality of BRCA1/2-related cancer. Fourteen studies of 10 risk assessment tools to guide referrals to genetic counseling demonstrated moderate to high accuracy (area under the receiver operating characteristic curve 0.68 to 0.96). No studies determined optimal ages, frequencies, or harms of risk assessment. Twenty-eight studies indicated genetic counseling is associated with reduced breast cancer worry, anxiety, and depression; increased understanding of risk; and decreased intention for testing. A RCT showed that population-based testing of Ashkenazi Jews detected more BRCA1/2 mutations than family-history based testing, while measures of anxiety, depression, distress, uncertainty, and quality of life were similar between groups; clinical outcomes were not evaluated. Twenty studies indicated breast cancer worry and anxiety were higher after testing for women with positive results and lower for others, and understanding of risk was higher. No RCTs evaluated the effectiveness of intensive screening for breast or ovarian cancer in mutation carriers. In observational studies, false-positive rates, additional imaging, and benign biopsies were higher with MRI than mammography. In eight RCTs, tamoxifen (risk ratio [RR], 0.69; 95% confidence interval [CI], 0.59 to 0.84; 4 trials), raloxifene (RR, 0.44 95% CI, 0.24 to 0.80; 2 trials), and aromatase inhibitors (RR, 0.45 95% CI, 0.26 to 0.70; 2 trials) were associated with lower risks of invasive breast cancer compared with placebo; results were not specific to mutation carriers. Adverse effects included venous thromboembolic events for tamoxifen and raloxifene; endometrial cancer and cataracts for tamoxifen; and vasomotor, musculoskeletal, and other symptoms for all medications. In observational studies, mastectomy was associated with 90 to 100 percent reduction in breast cancer incidence and 81 to 100 percent reduction in breast cancer mortality; oophorectomy or salpingo-oophorectomy was associated with 69 to 100 percent reduction in ovarian cancer; complications were common with mastectomy. LIMITATIONS: Including only English-language articles and studies applicable to the United States; varying number, quality, and applicability of studies; and few studies of untested women previously treated for BRCA1/2-related cancer. CONCLUSIONS: Risk assessment, genetic counseling, and genetic testing to reduce BRCA1/2-cancer incidence and mortality as a prevention service has not been directly evaluated by current research. Risk assessment with familial risk tools accurately identifies high-risk women for genetic counseling. Genetic counseling reduces breast cancer worry, anxiety, and depression; increases understanding of risk; and decreases intention for mutation testing, while testing improves accuracy of understanding of risk. The effectiveness of intensive screening is not known, but it increases false-positive results and procedures. Risk-reducing medications and surgery are associated with reduced breast and ovarian cancer, but also have adverse effects. Evidence gaps relevant to prevention remain and additional studies are needed to better inform clinical practice.