Download or read book Assessing Tumor Genomic Profiling Reports for Genetic Counseling Referral Indications written by Margaret McDuffee and published by . This book was released on 2016 with total page 33 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our purpose is two-fold: (1) to identify patients who may benefit from referrals to cancer genetic counseling by characterizing the alterations reported in tumor profiling reports without matched germline control, and (2) to assess the utility of public database ClinVar in providing further information on these alterations. We assessed 160 reports across 66 tumor types. 127 (79%) reports had a mutation in 1 of 86 selected cancer predisposition genes. Of these, 29 (23%) did not meet ACMG/NSGC criteria for referral based on tumor type alone. 19% of mutations in selected genes were found in ClinVar, with 15% reported as both germline and on the pathogenic spectrum. 31% of VUSs in selected genes were found in ClinVar, with 2% reported as both germline and on the pathogenic spectrum. Our results highlight a potential to miss patients at increased risk of cancer predisposition syndromes based on tumor type alone.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Download or read book Psychosocial Genetic Counseling written by Jon Weil and published by Oxford University Press. This book was released on 2000-09-07 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: Psychosocial issues are integral to all genetic counseling interactions. They include counselees' beliefs about the cause of birth defects and genetic disorders, the cognitive procession of medical information and risk figures, emotions such as anxiety and guilt, and the complex process of decision making. Drawing on direct clinical experience and the growing body of relevant literature, Psychosocial Genetic Counseling provides a comprehensive, integrated approach to understanding these issues and their applications to genetic counseling. The book combines theoretical and practical approaches, including many clinical vignettes and examples of dialogue. It is written in an engaging style that conveys the emotional immediacy of genetic counseling. The emotional and social effects of genetic disorders are discussed with reference to the individual and to couple, family, and social interactions. Counseling techniques and the agenda of the genetic counseling session are then addressed in detail. Specialized aspects of prenatal diagnosis counseling, cancer risk counseling, and genetic counseling with children and adolescents are integrated with these general principles. Nondirective counseling and the psychology of risk interpretation and decision making are discussed from theoretical and historical perspectives, leading to recommendations for their application to clinical practice. The influences of ethnocultural history, beliefs and practices, for counselee and counselor, are then discussed as they enter into all aspects of genetic counseling.
Download or read book Clinical Cancer Genetics written by Kenneth Offit and published by Wiley-Blackwell. This book was released on 2030-05-07 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by a world-recognized leader in this emerging field, Clinical Cancer Genetics provides an updated and expanded treatment of Kenneth Offit's seminal text on the clinical management associated with syndromes of cancer predisposition, with a thorough review of the relevant molecular genetics. This second edition features new coverage of pharmacogenetics, gene therapy trials, high throughput genotyping, and microarrays and includes a new focus on epigenetic events in carcinogenesis within background chapter on cancer genetics. Expanded coverage highlights more uncommon and rare cancer predisposition syndromes.
Download or read book A Guide to Genetic Counseling written by Wendy R. Uhlmann and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 644 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Prescribing Our Future written by Diane M. Bartells and published by Routledge. This book was released on 2020-04-30 with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic counselors translate the findings of scientific investigation into meaningful accounts that enable individuals and families to make decisions about their lives. This collection of original papers explores the history, values, and norms of that process, with some focus on the value of nondirectiveness in counseling practice. The contributors; examination of genetic counseling issues serves as a foundation from which to address other ethical, legal, and policy considerations in the expanding universe of clinical genetics.
Download or read book Cancer associated Genodermatoses written by Henry T. Lynch and published by John Wiley & Sons. This book was released on 1982 with total page 588 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Hereditary Colorectal Cancer written by Laura Valle and published by Springer. This book was released on 2018-05-04 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides information on a wide variety of issues ranging from genetics to clinical description of the syndromes, genetic testing and counseling, and clinical management including surveillance, surgical and prophylactic interventions, and chemoprevention. Moreover, current hot issues, such as the identification of novel causal genes and the challenges we face, and the relevance of cancer risk modifiers, both genetic and environmental, are also discussed. This reference book is great for geneticists, oncologists, genetic counselors, researchers, clinicians, surgeons and nurses dedicated to, or interested in, hereditary cancer. The best and most recognized experts in the field have contributed to this project, guaranteeing updated information, accuracy and the discussion of topical issues.
Download or read book Genomics and Health in the Developing World written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2012-05-11 with total page 1569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
Download or read book Genetics of Colorectal Cancer written by John D. Potter and published by Springer. This book was released on 2008-12-08 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic susceptibility refers to how variations in a person’s genes increase or decrease his or her susceptibility to environmental factors, such as chemicals, radiation and lifestyle (diet and smoking). This volume will explore the latest findings in the area of genetic susceptibility to gastrointestinal cancers, focusing on molecular epidemiology, DNA repair, and gene-environment interactions to identify factors that affect the incidence of GI cancers. Topics will include germline susceptibility, including Mendelian patterns of inheritance and gene-environment interactions that lead to cancer etiology.
Download or read book Hereditary Colorectal Cancer written by Miguel A. Rodriguez-Bigas and published by Springer Science & Business Media. This book was released on 2010-09-10 with total page 615 pages. Available in PDF, EPUB and Kindle. Book excerpt: Colorectal cancer is the third most commonly diagnosed cancer in the US and the third most recently linked to cancer deaths. The national annual incidence rate of colorectal cancer is approximately 148,000+, striking slightly more females than males. The lifetime risk of colorectal cancer is 5-6%, however patients with a familial risk (with two or more first or second degree relatives) make up 20% of the patients. Persons who carry genetic mutations linked to hereditary colorectal cancer are the most likely to develop the disease.
Download or read book Anticipate and Communicate written by Presidential Commission for the Study of Bioethical Issues and published by CreateSpace. This book was released on 2015-03-11 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Anticipate and Communicate is the Bioethics Commission's sixth major report. In this report the Bioethics Commission offers specific recommendations for the management of incidental and secondary findings in clinical, research and direct-to-consumer settings. Emerging medical technologies, changing cost structures, and evolving medical practice make the likelihood of discovering incidental and secondary findings across contexts a growing certainty. Such findings can be lifesaving, but also can lead to uncertainty and distress if they are unexpected or identify conditions for which no effective treatment is available.
Download or read book Genetics and Genomics in Oncology Nursing Practice written by Agnes Masny and published by . This book was released on 2010 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This work broadens the topic of genetics from a discussion of risk assessment to encompass such issues as cancer biology, clinical applications of genetic study, and the scope of oncology nursing practice.
Download or read book Detection of Cancer Predisposition written by and published by . This book was released on 1990 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Cancer Genetics A Clinical Approach written by Xavier Llor and published by McGraw Hill Professional. This book was released on 2021-11-19 with total page 474 pages. Available in PDF, EPUB and Kindle. Book excerpt: The ultimate guide to caring for and communicating with patients suffering with hereditary cancer syndromes Providing the essential tools needed to understand clinical cancer genetics, Cancer Genetics: A Clinical Approach builds your mastery of differential diagnosis formulation, all the available genetic testing options at your disposal, interpreting results logically and accurately, and educating patients and their families about effective cancer prevention methods. This unparalleled resource walks you through the process of effectively and thoughtfully counseling patients—from pre-test counseling and relaying test results to navigating the legal implications of hereditary conditions and coping with the resulting psychological challenges. Cancer Genetics: A Clinical Approach is ideal for both specialized cancer genetics clinics or any healthcare professional seeking to improve their skills in identifying patients with possible hereditary cancer syndromes and recognizing which ones should be referred to a high-risk/clinical genetics specialty program.
Download or read book The Hereditary Basis of Childhood Cancer written by David Malkin and published by Springer. This book was released on 2021-09-07 with total page 491 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume elaborates on the research and clinical implications of the hereditary and molecular basis of childhood cancers. The focus of the ‘disease-related’ chapters of the book is to integrate what is known about the molecular basis of that particular clinical entity (or group of related entities) with the clinical manifestations, to relate the relationship of the molecular oncologic pathways with relevant developmental or non-human species biology in order to better understand the complexity of these systems. The resulting clinical implications of understanding this biology are elaborated on. Chapters 13-16 discuss the broader psychosocial, ethical and genetic counseling issues that arise and that are so critical to translating the knowledge gained from advances in molecular genetics into the clinic. Chapter 12 in particular provides a unique perspective of the application of this knowledge in less-developed nations where ‘modern’ technologies may not be readily available, but where the clinical manifestations of these disorders are prevalent.
Download or read book Cancer Principles and Practice of Oncology Handbook of Clinical Cancer Genetics written by Ellen Matloff and published by Lippincott Williams & Wilkins. This book was released on 2013-03-25 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical, user-friendly guidebook will allow the clinician to search under disease site for the hereditary cancer syndromes relevant for his/her patient's cancer. For example, a gynecologist oncologist whose patient has ovarian cancer can turn to the Ovary chapter and quickly read a summary of all of the hereditary cancer syndromes that include ovarian cancer. She can learn the questions she should be asking when expanding that patient's personal and family history, which genes are most relevant, whether to refer that patient on for genetic counseling and testing, and how to manage that patient long-term if the patient is mutation positive or negative. The same holds true for the practicing oncologist, surgeon, urologist, endocrinologist, gynecologist, primary care physician, physician's assistant, advanced practice nurse and any other clinician seeing a patient who has had cancer. This guidebook also contains an overview article on genetic counseling and testing and several in depth articles on issues that are up and coming in the field of hereditary cancer.
