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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.
Purpose: This study assessed the impact of genetic counseling on the screening practices, use of prophylactic surgery, anxiety level, and perceived genetic discrimination of women seen in a clinically based breast and ovarian cancer program. Patients and Methods: 145 women who received genetic counseling for hereditary breast and ovarian cancer through the Hereditary Cancer Program at Children's Hospital Medical Center and The Barrett Cancer Center at the University of Cincinnati completed a self-administered, standardized questionnaire. Question-naire responses were compared with clinical intake information and genetic test status (positive for a BRCA1 or BRCA2 mutation, negative for a mutation, or not tested) to assess changes in cancer screening practices. Results: The decision to pursue prophylactic mastectomy (PM) and oophorectomy (PO) after counseling were significantly associated with genetic test status (p=0.0025 (for PM) and p=
A testament to how far the field of genetic counseling for breast cancer susceptibility has advanced since the mid-1990s, following the cloning of two major breast (and ovarian) cancer susceptibility genes, BRCA1 and BRCA2.
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.
Counseling About Cancer A key resource for all genetic counselors and other healthcare providers, this comprehensive reference has been completely updated and reorganized for its fourth edition Over 50 hereditary cancer predisposition genes have now been identified. Genetic testing can be a powerful tool in assessing individual cancer risk and creating robust medical plans, but can also be a complex process, with personal and familial factors carrying real emotional weight. As such, genetic counseling for patients and their families during the process of genetic testing is critical. Counseling about Cancer: Strategies for Genetic Counseling is the only comprehensive resource available for clinicians who want to understand and apply these dimensions of patient care. This updated and reorganized edition provides detailed information designed to be incorporated in a variety of clinical and health-care contexts. Updated with the latest guidance and research, it promises to continue as the indispensable guide to this challenging subject. Readers of the fourth edition of Counseling about Cancer will also find: New chapters analyzing pediatric cancer syndromes, genetic testing technology, and more Increased focus on gynecological cancer syndromes and related genes Detailed case studies to reinforce themes of each chapter Counseling about Cancer is a useful reference for genetic counselors and other healthcare providers looking to familiarize themselves with best practices of patient counseling and care.
"Be informed. Be empowered. Be well." If you are concerned that the cancer in your family is hereditary, you face difficult choices. Should you have a blood test that may reveal whether you have a high likelihood of disease? Do you preemptively treat a disease that may never develop? How do you make decisions now that will affect the rest of your life? This helpful, informative guide answers your questions as you confront hereditary breast and ovarian cancer. Developed by Facing Our Risk of Cancer Empowered (FORCE), the nation’s only nonprofit organization dedicated to supporting families affected by hereditary breast and ovarian cancer, this book stands alone among breast and ovarian cancer resources. Equal parts health guide and memoir, it defines complex issues facing previvors and survivors and provides solutions with a fresh, authoritative voice. Written by three passionate advocates for the hereditary cancer community who are themselves breast cancer survivors, Confronting Hereditary Breast and Ovarian Cancer dispels myths and misinformation and presents practical risk-reducing alternatives and decision-making tools. Including information about genetic counseling and testing, preventive surgery, and fertility and family planning, as well as explanations of health insurance coverage and laws protecting genetic privacy, this resource tackles head-on the challenges of living in a high-risk body. Confronting hereditary cancer is a complex, confusing, and highly individual journey. With its unique combination of the latest research, expert advice, and compelling personal stories, this book gives previvors, survivors, and their family members the guidance they need to face the unique challenges of hereditary cancer.
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.
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.
Introduction to genetic counseling -- History of genetic counseling -- Practice definition and goals -- Characteristics of clients and genetic counseling -- Characteristics of counselors and genetic counseling -- Applying ethical theories to genetic counseling practice -- Conflict of interest and the code of ethics -- Relational genetic counseling -- Theories for genetic counseling practice -- Research in genetic counseling -- Genetic counseling in the genomic era.
Resurrection Lily shares a story of inheritance and intuition, of what can surface in the body and the spirit when linked by DNA. As Amy Byer Shainman discovers she has inherited a BRCA gene mutation that puts her at high risk of developing certain cancers, she struggles to come to terms with preventively removing her breasts when she does not have a breast cancer diagnosis. Through her experience making decisions about her health, Amy becomes invigorated with purpose and establishes herself as a leading advocate for those with BRCA and other hereditary cancer syndromes, tirelessly working to educate others facing the same daunting reality. Painting a timely and moving portrait of what it feels like to carry a BRCA gene mutation, Resurrection Lily provides firsthand insight into the patient experience. Weaved throughout Amy’s open and vulnerable story is the expertise of her doctors, education from top medical experts in cancer genetics, and whispered lifesaving guidance from her grandmother Lillian.