Author: Publisher: ISBN: Category : Languages : en Pages : 13
Book Description
This study was designed to demonstrate the utility of brief quantitative risk assessment in breast care clinical settings as a method of referral to cancer risk counseling. We examined factors that influence the decision to undergo cancer risk counseling after the referral is made. We developed a computerized program, BRISK, that calculates interval breast cancer risks using the Gail and Claus epidemiological models, and BRCA1 and BRCA2 mutation probabilities using the Couch, Shattuck-Eidens, Frank, and BRCAPRO models. Questionnaires assessing psychological status, and knowledge and attitudes about breast cancer, cancer risk counseling, and genetic testing were used to identify predictors of referral uptake. Of the 120 subjects in the biopsy setting, 53% had breast cancer risk >- twice the population risk as measured by the epidemiological models. Of the 91 women in the treatment selling, 47% had a BRCA mutation risk >- 10%. Uptake of referral was low in the biopsy group (1/63), but higher in the treatment group (13/43). Predictors of uptake included family history of cancer, interest in family risks, high income, psychological disturbance, and perceived risk. Barriers included lack of time, cost, and fear of insurance discrimination. However, 81% thought brief risk assessment should be routine, suggesting annual mammography or OB/GYN visits as the most effective selling. Brief breast cancer risk assessment is easily incorporated into clinical settings and is well-accepted by most patients. It can be utilized not only for management of individuals, but also for public health intervention, resource allocation, and targeted research.
Author: Suzanne O'Neill Publisher: ISBN: Category : Languages : en Pages : 15
Book Description
This study was designed to demonstrated the utility of brief quantitative risk assessment in a breast biopsy clinic setting as a method of referral to cancer risk counseling. We are examining factors that influence the decision to undergo cancer risk counseling after the referral is made. Computerized risk assessment was performed on 120 women undergoing breast biopsy. Questionnaires measuring knowledge and attitudes about breast cancer, cancer risk counseling, and genetic testing were completed, and psychological assessments were done. Fifty-three percent had risk levels warranting referral and were followed to assess referral uptake. Although only one woman followed through with a referral appointment, 46% stated that they would definitely consider genetic counseling in the future. Primary reasons cited for declining referral were receipt of sufficient risk information from the brief risk assessment (40%) or from their doctors (49%), perceived "low risk" (40%), and no family history of breast cancer (31%). Objective risk, as calculated by statistical models may not be a sufficient motivation for seeking cancer risk counseling at a genetic-based program. Subjects cited a precipitating event such as a cancer diagnosis as a primary motivating factor, therefore the study has been modified and is continuing in a diagnosed treatment population.
Author: Heidi D. Nelson Publisher: ISBN: Category : Languages : en Pages : 359
Book Description
PURPOSE: To review new evidence on the benefits and harms of risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women for the U.S. Preventive Services Task Force. DATA SOURCES: MEDLINE and PsycINFO (January 2002 to December 31, 2012), Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews (4th Quarter 2012), Scopus, and reference lists were searched for English-language studies of benefits and harms of risk assessment, genetic counseling, genetic testing, and interventions to reduce BRCA-related cancer and mortality. DATA SYNTHESIS: Thirteen general risk models, such as the Gail model, are modest predictors of individual risk for breast cancer (c-statistic, 0.55 to 0.65). Five familial risk models for nongenetics specialists to guide referrals to genetic counseling accurately predict individual risk for BRCA mutations (c-statistic, >0.80). No studies reported harms of risk assessment. Sixteen studies indicated that genetic counseling decreases cancer worry, anxiety, and depression; increases the accuracy of risk perception; and decreases intention for mutation testing. Thirty-two new studies and 38 earlier studies provided data for meta-analysis estimates of the prevalence and penetrance of BRCA mutations. Prevalence varies by population: 0.2 to 0.3 percent in general populations, 3 percent in women with breast cancer, 6 percent in women with breast cancer onset before age 40 years, 10 percent in women with ovarian cancer, and 20 percent in high-risk families. Among Ashkenazi Jewish women, prevalence is 2 percent in unselected populations and 10 percent in high-risk families. The penetrance of BRCA mutations differs by test result. Breast cancer penetrance to age 70 years if the test is positive is 46 to 71 percent for BRCA1 or BRCA2; ovarian cancer penetrance is 41 to 46 percent for BRCA1 and 17 to 23 percent for BRCA2. No estimates were available for women with variants of uncertain significance. The standardized incidence rate for breast cancer is 3.81 (95% CI, 3.06 to 4.75) for uninformative negative test results and 1.13 (95% CI, 0.81 to 1.58) for true negative results. Estimates for ovarian cancer were highly heterogeneous. Breast cancer worry and anxiety increased after testing in women with positive results and decreased in others, although results differed across studies. Risk perception improved after receiving test results. No trials of the effectiveness of intensive screening for breast or ovarian cancer in women who are mutation carriers have been published. False-positive rates, unnecessary imaging, and unneeded surgery were higher in women undergoing intensive screening. Most women experienced no anxiety after screening with magnetic resonance imaging, mammography, or clinical breast examination, although women recalled for additional testing had transient anxiety. There are no trials of risk-reducing medications specifically in women who are mutation carriers. Tamoxifen and raloxifene reduced invasive breast cancer by 30 to 68 percent in placebo-controlled trials enrolling women with various levels of risk; tamoxifen had a greater effect than raloxifene in a head-to-head trial. Results suggested that reduction was greater in women with more relatives with breast cancer, but confidence intervals overlapped and results were not specific for women who are mutation carriers. Tamoxifen and raloxifene increased thromboembolic events and tamoxifen increased endometrial cancer and cataracts. In high-risk women and women who are mutation carriers, risk-reducing mastectomy reduced breast cancer by 85 to 100 percent and breast cancer mortality by 81 to 100 percent; risk-reducing salpingo-oophorectomy reduced breast cancer by 37 to 100 percent, ovarian cancer by 69 to 100 percent, and all-cause mortality by 55 to 100 percent. Some women experienced physical complications of surgery, postsurgical symptoms, or changes in body image; some had improved anxiety. LIMITATIONS: Including only English-language articles and studies applicable to the United States; varying number, quality, and applicability of studies. CONCLUSIONS: Risk assessment using familial risk models to guide referrals is accurate. Genetic counseling reduces distress, improves risk perception, and reduces intention for testing. Genetic testing provides risk estimates for specific populations depending on test results. A true negative test indicates no increased risk for breast cancer. The effectiveness of intensive screening is not known, but it increases false-positive results and procedures. Tamoxifen and raloxifene reduce risk for breast cancer, but have adverse effects. Risk-reducing mastectomy and salpingo-oophorectomy are effective in reducing breast and ovarian cancer. Several evidence gaps remain and additional studies are necessary to better inform practice.
Author: Publisher: ISBN: Category : Languages : en Pages : 27
Book Description
Previous research has shown that women often lack knowledge regarding the kinds of information that are required to determine inherited risk as well as on the process and content of risk assessment/genetic testing. This lack of information leads them to feel unprepared for risk assessment/genetic testing, if they choose to seek it. The present study will evaluate an enhanced intervention's ability to increase a women's knowledge of: 1) the factors that determine genetic predisposition to breast/ovarian cancer; 2) their personal family history and other risk factors; 3) the benefits and drawbacks of genetic testing for breast/ovarian cancer; 4) the range of surveillance and preventive behaviors available; and 5) the actual process of risk assessment/genetic testing. Participants are 200 women who contact the Cancer Information Service (CIS) requesting information on inheritable breast/ovarian cancer, risk assessment and/or genetic testing. Women are randomly assigned to either the standard or enhanced intervention. A randomized study in which the two interventions are compared will test the effectiveness of the CIS in increasing women's knowledge of inheritable breast/ovarian cancer and the process of risk assessment/genetic testing.
Author: U.S. Department of Health and Human Services Publisher: Createspace Independent Publishing Platform ISBN: 9781495306136 Category : Medical Languages : en Pages : 368
Book Description
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.
Author: Katherine A. Schneider Publisher: John Wiley & Sons ISBN: 1118119916 Category : Medical Languages : en Pages : 498
Book Description
Important scientific discoveries and ever-changing guidelines for how to identify and manage patients with hereditary cancer syndromes are constantly evolving. This Third Edition of Counseling About Cancer is completely updated and expanded to feature five entirely new chapters on breast cancer, colon cancer, other solid tumors, clients and families, and genetic test results and follow-up. This is the only reference and clinical book on the market for cancer genetics counselors and other healthcare providers who must quickly assimilate complex and ever-changing data on the hereditary risk for cancer.
Author: Juerg Hodler Publisher: Springer ISBN: 3030111490 Category : Medical Languages : en Pages : 237
Book Description
This open access book focuses on diagnostic and interventional imaging of the chest, breast, heart, and vessels. It consists of a remarkable collection of contributions authored by internationally respected experts, featuring the most recent diagnostic developments and technological advances with a highly didactical approach. The chapters are disease-oriented and cover all the relevant imaging modalities, including standard radiography, CT, nuclear medicine with PET, ultrasound and magnetic resonance imaging, as well as imaging-guided interventions. As such, it presents a comprehensive review of current knowledge on imaging of the heart and chest, as well as thoracic interventions and a selection of "hot topics". The book is intended for radiologists, however, it is also of interest to clinicians in oncology, cardiology, and pulmonology.
Author: Katherine A. Schneider Publisher: John Wiley & Sons ISBN: 1119466466 Category : Medical Languages : en Pages : 548
Book Description
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.
Author: Wendy R. Uhlmann Publisher: John Wiley & Sons ISBN: 1118210530 Category : Medical Languages : en Pages : 644
Book Description
The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.
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Author: Suzanne O'Neill
Author: Heidi D. Nelson
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Author: Cecelia A. Bellcross
Author: U.S. Department of Health and Human Services
Author: Katherine A. Schneider
Author: Juerg Hodler
Author: Katherine A. Schneider
Author: Wendy R. Uhlmann