Risk Assessment, Genetic Counseling, and Genetic Testing for Brca-related Cancer PDF Download
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Author: U.S. Department of Health and Human Services
Publisher: Createspace Independent Publishing Platform
ISBN: 9781495306136
Category : Medical
Languages : en
Pages : 368
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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: U.S. Department of Health and Human Services
Publisher: Createspace Independent Publishing Platform
ISBN: 9781495306136
Category : Medical
Languages : en
Pages : 368
Get Book Here
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: Heidi D. Nelson
Publisher:
ISBN:
Category :
Languages : en
Pages : 359
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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: Heidi D. Nelson
Publisher:
ISBN:
Category :
Languages : en
Pages : 345
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Book Description
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.
Author: Fiona Lalloo
Publisher: Oxford University Press
ISBN: 9780198529606
Category : Business & Economics
Languages : en
Pages : 296
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Book Description
This comprehensive text will help the non-specialist undertake cancer risk assessment in the context of a family history, which also provides the foundation for cancer genetics for the specialist.
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309179386
Category : Medical
Languages : en
Pages : 134
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Book Description
These proceedings of a workshop presented to the Institute of Medicine's (IOM) National Cancer Policy Forum on March 30, 2007, are the result of forum discussions about genetic testing and counseling at its meetings on June 16 and October 30, 2006. Those discussions, led by forum members Betty Ferrell and Patricia Ganz, noted that genetic testing and counseling are becoming more complex and important for informing patients and families of risks and benefits of certain courses of action, and yet organized expert programs are in short supply. The subject matter involves not only the scientific and clinical aspects but also workforce and reimbursement issues, among others. Drs. Ferrell and Ganz proposed that the forum could provide a useful review of the various important implications of these issues by holding and reporting a workshop on the subject. They volunteered to work with staff to organize and lead such a workshop. The agenda for the workshop is reproduced in the appendix to these proceedings. It includes the presentations of the invited speakers and the comments of speakers, forum members, and others in attendance as transcribed and edited to eliminate redundancies, grammatical errors, and otherwise make them more readable. Cancer-Related Genetic Testing and Counseling : Workshop Proceedings summarizes the workshop.
Author: U. S. Department of Health and Human Services
Publisher: CreateSpace
ISBN: 9781490543253
Category : Medical
Languages : en
Pages : 320
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Book Description
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?
Author:
Publisher:
ISBN:
Category : Breast
Languages : en
Pages : 88
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Book Description
Author: Claudine Isaacs
Publisher: CRC Press
ISBN: 1420020366
Category : Medical
Languages : en
Pages : 402
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Book Description
Intended for medical oncologists, surgeons, obstetricians, gynecologists, geneticists, genetic counselors, and primary care physicians, this text presents the epidemiological, biological, and clinical issues associated with hereditary breast cancer. It offers clear guidance on the application and utilization of cancer risk assessment models, geneti
Author: Anees B. Chagpar
Publisher: Springer
ISBN: 3319591983
Category : Medical
Languages : en
Pages : 247
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Book Description
As there are a number of nuances in terms of how to manage mutation carriers (both with and without a concomitant diagnosis of breast cancer), this text provides a comprehensive, state-of-the art review of this field. It represents a valuable resource for a myriad of clinicians and healthcare personnel who interface with these patients. The text discusses the latest recommendations for genetic counseling and risk assessment, provides a framework for considering reducing risk in mutation carriers who do not present with a concomitant diagnosis of breast cancer, and finally elucidates the many considerations of managing a breast cancer patient with a BRCA mutation. The text presents a multidisciplinary approach gleaning insights from imaging, breast surgery, gynecology, plastic surgery, medical oncology, radiation oncology and psycho-oncology. Managing BRCA Mutation Carriers will be a useful resource for physicians and healthcare providers from a myriad of disciplines who manage BRCA mutation carriers. All chapters are written by experts in their fields and include the most up to date scientific and clinical information.
Author: Bonnie S. LeRoy
Publisher: John Wiley & Sons
ISBN: 1119529859
Category : Medical
Languages : en
Pages : 416
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Book Description
The second edition of Genetic Counseling Practice: Advanced Concepts and Skills, provides in-depth content regarding the advanced competencies for meeting patient needs across the changing landscape of genetic counseling practice. The content aligns with the Reciprocal Engagement Model (REM) of practice which integrates the biomedical knowledge and psychosocial aspects of genetic counseling. This edition has been revised and expanded to reflect advances made in the present-day field. Edited by a team two genetic counselors and a psychologist, the chapters offer a holistic picture of genetic counseling. Chapter authors are all recognized experts in the profession. The chapters are grounded in evidence-based practice and research. Each chapter includes learning activities to help readers apply concepts and skills. Featured topic areas include: Meeting the needs of culturally diverse patients Addressing challenging patient dynamics Working with children, adolescents and families Using emerging service delivery models for genetic counseling Engaging in self-reflective, deliberate practice Promoting genetic counselor professional development Genetic Counseling Practice is an indispensable guide to the complex and evolving field of genetic counseling, and this updated second edition will help practitioners and trainees alike navigate its most pressing and practical challenges with skill and care.
