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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 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).
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.
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.
Breast cancer is the second most common cancer worldwide affecting women. Due to ongoing research in the field of oncology, early detection and survival rates of breast cancer are increasing, as are the numbers of women seeking BRCA1/2 genetic testing. Being diagnosed with breast cancer and/or receiving BRCA1/2 results can be stressful experiences. Research has shown that disclosing one’s chronic illness to others can decrease stress and improve well-being in many ways. This literature review explores the impact that disclosure of one’s breast cancer diagnosis and/or BRCA1/2 results has on several facets of one’s overall well-being. A systematic literature review was conducted. All articles included in the results section included a sample of women who received BRCA1/2 results and/or were diagnosed with breast cancer and disclosed their breast cancer diagnosis or BRCA1/2 results to others. Articles included in this review assessed any of the following variables after the disclosure occurred: fear, guilt, stress, depression, and anxiety as well as social support, quality of life, and quality of or changes in relationships. Twelve articles met inclusion and exclusion criteria. Two articles examined the effects of disclosing worries associated with a breast cancer diagnosis and found that such disclosure was helpful for the cancer patient. Five articles examined the experience of disclosing a BRCA1/2 test result to children and/ or partners; the majority found that disclosure was beneficial, strengthened relationships, and provided a sense of relief post-disclosure. One article examined the disclosure of an inconclusive BRCA1/2 test result to daughters and sisters and found that the majority of the participants reported no change in their relationship post-disclosure. Three articles examined self-disclosure of BRCA1/2 test results to family members and found that participants reported less distress when disclosing a negative test result vs positive result, denied any familial conflict post-disclosure, and reported a positive disclosure experience when they felt well-informed and supported. One article found that disclosure of their breast cancer diagnosis had a positive effect on relationships with family, friends, and work colleagues. Overall, women reported feeling satisfied with their decision to disclose BRCA1/2 test results and/or breast cancer diagnosis. Moreover, the self-disclosure of one’s BRCA1/2 test result and/ or cancer diagnosis typically was well-received by family members, often strengthening familial relationships. It is important for clinicians to be tuned to women’s distress related to having breast cancer and/or undergoing genetic testing and the potential benefits of self-disclosure.
[Truncated abstract] Background: A review of the literature indicated there was a need for more long-term randomised controlled studies on the effects of BRCA counselling/testing on high risk women, including improved strategies for risk communication. Reviews have also shown women are confused about the significance of inconclusive or non informative results with a need for more research in this area. Aims: The general aim of this study was to evaluate the impact of breast cancer genetic counselling on psychological distress levels, perception of risk, genetic knowledge and understanding of BRCA testing/test results in a cohort of 207 women from high risk breast cancer families who were referred for genetic counselling in Perth during the period 1997 to 2001. Short- and long-term impact of BRCA genetic counselling/testing was determined in women with and without cancer in a randomised controlled trial as part of which women were randomised to either receive immediate versus delayed genetic counselling. This included family communication patterns before BRCA testing, anticipated outcomes of testing on oneself and family including intentions for result disclosure. Comprehension of index and predictive BRCA testing with possible results was assessed both in the short- and the long-term and understanding of individual or family BRCA test results was evaluated at long-term. The effect of genetic counselling on breast cancer risk perception in unaffected women was evaluated. This study considered a theoretical framework of educational learning theories to provide a basis for risk communication with possible relevance for future research. ... Only 25% of the original study population (52/207) reported BRCA results and women's understanding of results is concerning. Key findings were: 1. The majority of affected women received an inconclusive result. 2. Out of twelve unaffected women who reported results, seven were inconclusive which are not congruent with predictive testing. This implies that these women did not understand their test result. 3. A minority of untested relatives did not know whether a family mutation had or had not been found in their tested family member or what their actual test result was. This implies either a lack of disclosure or that woman did not understand the rationale for and significance of testing for a family mutation. 4. Three relatives did not understand a positive result was a mutation. Conclusion: The implication of this research for breast cancer counselling and testing services is that women who wait for counselling are no worse off in terms of short- or long-term general psychological distress than women who receive the intervention early. There is a suggestion that unaffected women without the disease found counselling more advantageous than affected women. The meaning of BRCA results as reported by women is concerning particularly women's understanding of negative and inconclusive results and further research is needed in this area. Too much information presented at counselling may affect women's comprehension of risk, BRCA testing and future test results and further research is required to evaluate the effects of information overload.
Screening for inherited breast and ovarian cancer susceptibility is a two-step process that includes an assessment of risk for clinically significant BRCA mutations followed by genetic testing of high-risk individuals. The evidence synthesis describes the strengths and limits of evidence about the effectiveness of selecting, testing, and managing patients in the course of screening in the primary care setting. Its objective is to determine the balance of benefits and adverse effects of screening based on available evidence. The target population includes adult women without preexisting breast or ovarian cancer presenting for routine care in the U.S. The evidence synthesis emphasizes the patient's perspective in the choice of tests, interventions, outcome measures, and potential adverse effects and focuses on those that are available and easily interpreted in a clinical context. It also considers the generalizability of efficacy studies and interprets the use of the tests and interventions in community-based populations seeking primary health care. Breast cancer is the second most common cancer in women in the U.S. after nonmelanoma skin cancer, and is the second leading cause of cancer death after lung cancer. In 2003, there were an estimated 211,300 new cases and 39,800 deaths from breast cancer. The incidence of breast cancer increases with age2 and is associated with several risk factors, although the majority of breast cancer occurs in women without known major risk factors. Ovarian cancer is the fifth leading cause of cancer death among women in the U.S., accounting for an estimated 25,400 new cases and 14,300 deaths in 2003. Risk for ovarian cancer also increases with age, peaking after age 80. The 5-year relative survival rate for all stages of ovarian cancer in the U.S. is 50%, but may improve to 95% for women whose disease is detected and treated in early stages. However, up to 75% of women with ovarian cancer have non-localized disease at the time of diagnosis because early stages are often asymptomatic. Five-year relative survival rates for women with regional and distant disease drop to 79% and 28%, respectively. Key questions addressed include: Key Question 1. Does risk assessment and BRCA mutation testing lead to a reduction in the incidence of breast and ovarian cancer and cause-specific and/or all cause mortality? Key Question 2. What are the ethical, legal, and social implications of genetic screening for breast and ovarian cancer susceptibility? Key Question 3a. How well does risk assessment for cancer susceptibility by a clinician in a primary care setting select candidates for BRCA mutation testing? Key Question 3b. What are the benefits of genetic counseling prior to testing? Key Question 3c. Among women with family histories predicting either an average, moderate, or high risk for a deleterious mutation, how well does BRCA mutation testing predict risk of breast and ovarian cancer? Key Question 4. What are the adverse effects of risk assessment, counseling, and testing? Key Question 5. How well do interventions reduce the incidence and mortality of breast and ovarian cancer in women identified as high-risk by history, positive genetic test results, or both? Key Question 6. What are the adverse effects of interventions?