Advertisement
| introduction to risk calculation in genetic counseling: Introduction to Risk Calculation in Genetic Counseling Ian D. Young, 2007 In third edition of this clear, reader-friendly guide, the author addresses the challenge of calculations in genetic counseling and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and key points in order to guide the reader to an accurate assessment of the risk of genetic disease. |
| introduction to risk calculation in genetic counseling: Introduction to Risk Calculation in Genetic Counselling Ian D. Young, 1991 |
| introduction to risk calculation in genetic counseling: Chromosome Abnormalities and Genetic Counseling R.J.M McKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer, 2011-11-11 Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again? are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action. |
| introduction to risk calculation in genetic counseling: Risk Estimates in Balanced Parental Reciprocal Translocations Sabine Stengel-Rutkowski, Pia Gallano, Jon Stene, 1988 |
| introduction to risk calculation in genetic counseling: A Guide to Genetic Counseling Wendy R. Uhlmann, Jane L. Schuette, Beverly M. Yashar, 2011-09-20 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. |
| introduction to risk calculation in genetic counseling: Genetic Counseling Practice Bonnie S. LeRoy, Patricia M. Veach, Dianne M. Bartels, PhD, 2011-09-20 The first advanced-level genetics counseling skills resource As genetic medicine and testing continue to expand, so the role of the genetic counselor is transforming and evolving. Genetic Counseling Practice: Advanced Concepts and Skills is the first text to address ways that genetic counselors can deepen their skills to meet expanding practice demands. This timely resource not only helps readers further develop their abilities to gather relevant data and interpret it for patients, it also aids them in surpassing their usual role by truly understanding patient situations, incorporating patient values into clinical practice, providing in-depth support, and facilitating thoroughly informed, autonomous decisions. Edited by an expert cross-disciplinary team consisting of a genetic counseling program director, a licensed psychologist, and a nurse/bioethicist/family social scientist, this authoritative reference provides specific and detailed instruction in addressing psychosocial aspects of genetic counseling practice and professional development and training issues of genetic counselors. Provides a process view of genetic counselor service provision; i.e., skills that promote desired genetic counseling outcomes are emphasized (such as relationship skills, patient characteristics, client behaviors, and extra-clinical skills) Includes experiential activities in every chapter to help readers apply concepts and skills Draws on the experience of widely recognized experts in genetic counseling theory, practice, and research, who serve as chapter authors Features numerous specific, real-life examples from clinical practice Genetic Counseling Practice addresses issues relevant to practicing genetic counselors as well as students of genetic counseling programs. In addition, oncology nurses, social workers, and psychologists working with genetic counseling patients and families; medical geneticists and physicians training in the field; and physician assistants will also benefit from this resource. |
| introduction to risk calculation in genetic counseling: Emery's Elements of Medical Genetics E-Book Peter D Turnpenny, Sian Ellard, 2011-03-04 Master the genetics you need to know with the updated 14th Edition of Emery’s Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field’s latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, and end-of-chapter summaries. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008. Access to www.studentconsult.com, including 150 USMLE-style multiple choice questions to aid study and self-testing. Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, ‘clonal’ sequencing, and more. Understand complex concepts with the help of an increased number of diagrams. Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics. |
| introduction to risk calculation in genetic counseling: Genetic Counseling Usha Dave, Dhanlaxmi Shetty, 2021-12-31 |
| introduction to risk calculation in genetic counseling: Applied Probability Kenneth Lange, 2008-01-17 Despite the fears of university mathematics departments, mathematics educat,ion is growing rather than declining. But the truth of the matter is that the increases are occurring outside departments of mathematics. Engineers, computer scientists, physicists, chemists, economists, statis- cians, biologists, and even philosophers teach and learn a great deal of mathematics. The teaching is not always terribly rigorous, but it tends to be better motivated and better adapted to the needs of students. In my own experience teaching students of biostatistics and mathematical bi- ogy, I attempt to convey both the beauty and utility of probability. This is a tall order, partially because probability theory has its own vocabulary and habits of thought. The axiomatic presentation of advanced probability typically proceeds via measure theory. This approach has the advantage of rigor, but it inwitably misses most of the interesting applications, and many applied scientists rebel against the onslaught of technicalities. In the current book, I endeavor to achieve a balance between theory and app- cations in a rather short compass. While the combination of brevity apd balance sacrifices many of the proofs of a rigorous course, it is still cons- tent with supplying students with many of the relevant theoretical tools. In my opinion, it better to present the mathematical facts without proof rather than omit them altogether. |
| introduction to risk calculation in genetic counseling: The Obstetric Hematology Manual Sue Pavord, Beverley Hunt, 2018-02-08 Understand the rapidly growing complexities of obstetric hematology and high-risk pregnancy management, with experts in the field. Now in its second edition, this comprehensive and essential guide focuses on providing the best support for patients and clinical staff, to prevent serious complications in pregnancy and the post-partum period for both mother and baby. Wide-ranging and detailed, the guide offers discussions on basic principles of best care, through to tackling lesser-known hematological conditions, such as cytopenias and hemoglobinopathies. Updated with color illustrations, cutting-edge research, accurate blood film reproductions, and practical case studies, the revised edition places invaluable advice into everyday context. This unique resource is essential reading for trainees and practitioners in obstetrics, anesthesia, and hematology, as well as midwives, nurses, and laboratory staff. Clarifying difficult procedures for disease prevention, the guide ensures safety when the stakes are high. Reflecting current evidence-based guidelines, the updated volume is key to improving pregnancy outcomes worldwide. |
| introduction to risk calculation in genetic counseling: Harper's Practical Genetic Counselling, Eighth Edition Angus Clarke, 2019-09-30 Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk from inherited disorders. Fully revised by its new author Angus Clarke, and with additional input from colleagues, this eighth edition provides indispensable and up-to-date guidance, helping readers to navigate the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Maintaining the trusted framework of earlier editions, the update presents the latest information on the use and interpretation of genetic test results, including new genomebased investigations and their application in the genetic counselling process. This book will help both the student and the practitioner, as genetic and genomic investigations become progressively more relevant to all healthcare professionals with the mainstreaming of genetics across the full range of medical practice. The eighth edition of this best-selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors and medical geneticists, for clinicians and nurses working in mainstream specialties who increasingly are dealing with the genetic aspects of disease, and for practitioners working in settings where referral to a genetics specialist is not readily available. It also provides invaluable background for other healthcare professionals, counsellors, social scientists, ethicists and genetics laboratory staff. |
| introduction to risk calculation in genetic counseling: Molecular Pathology in Clinical Practice Debra G.B. Leonard, 2016-02-02 This authoritative textbook offers in-depth coverage of all aspects of molecular pathology practice and embodies the current standard in molecular testing. Since the successful first edition, new sections have been added on pharmacogenetics and genomics, while other sections have been revised and updated to reflect the rapid advances in the field. The result is a superb reference that encompasses molecular biology basics, genetics, inherited cancers, solid tumors, neoplastic hematopathology, infectious diseases, identity testing, HLA typing, laboratory management, genomics and proteomics. Throughout the text, emphasis is placed on the molecular variations being detected, the clinical usefulness of the tests and important clinical and laboratory issues. The second edition of Molecular Pathology in Clinical Practice will be an invaluable source of information for all practicing molecular pathologists and will also be of utility for other pathologists, clinical colleagues and trainees. |
| introduction to risk calculation in genetic counseling: Practical Genetic Counseling Mr. Rohit Manglik, 2024-06-10 EduGorilla Publication is a trusted name in the education sector, committed to empowering learners with high-quality study materials and resources. Specializing in competitive exams and academic support, EduGorilla provides comprehensive and well-structured content tailored to meet the needs of students across various streams and levels. |
| introduction to risk calculation in genetic counseling: Calculated Risks Gerd Gigerenzer, 2015-11-10 At the beginning of the twentieth century, H. G. Wells predicted that statistical thinking would be as necessary for citizenship in a technological world as the ability to read and write. But in the twenty-first century, we are often overwhelmed by a baffling array of percentages and probabilities as we try to navigate in a world dominated by statistics. Cognitive scientist Gerd Gigerenzer says that because we haven't learned statistical thinking, we don't understand risk and uncertainty. In order to assess risk -- everything from the risk of an automobile accident to the certainty or uncertainty of some common medical screening tests -- we need a basic understanding of statistics. Astonishingly, doctors and lawyers don't understand risk any better than anyone else. Gigerenzer reports a study in which doctors were told the results of breast cancer screenings and then were asked to explain the risks of contracting breast cancer to a woman who received a positive result from a screening. The actual risk was small because the test gives many false positives. But nearly every physician in the study overstated the risk. Yet many people will have to make important health decisions based on such information and the interpretation of that information by their doctors. Gigerenzer explains that a major obstacle to our understanding of numbers is that we live with an illusion of certainty. Many of us believe that HIV tests, DNA fingerprinting, and the growing number of genetic tests are absolutely certain. But even DNA evidence can produce spurious matches. We cling to our illusion of certainty because the medical industry, insurance companies, investment advisers, and election campaigns have become purveyors of certainty, marketing it like a commodity. To avoid confusion, says Gigerenzer, we should rely on more understandable representations of risk, such as absolute risks. For example, it is said that a mammography screening reduces the risk of breast cancer by 25 percent. But in absolute risks, that means that out of every 1,000 women who do not participate in screening, 4 will die; while out of 1,000 women who do, 3 will die. A 25 percent risk reduction sounds much more significant than a benefit that 1 out of 1,000 women will reap. This eye-opening book explains how we can overcome our ignorance of numbers and better understand the risks we may be taking with our money, our health, and our lives. |
| introduction to risk calculation in genetic counseling: The Evolution of Medical Genetics Peter Harper, 2019-10-08 This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author’s personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, providing invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics, genomics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics and genomics. |
| introduction to risk calculation in genetic counseling: Cardiovascular Genetics and Genomics in Clinical Practice Donna K. Arnett, PhD, Sanjiv J. Shah, MD, 2014-11-10 Weighted Numerical Score: 100 - 5 Stars! This is a systematic guide to cardiovascular genetics and genomics from basic concepts to clinical application. It organizes a large volume of information from an active area of research, which holds promise for future discovery. --Doody's Reviews Cardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand primer of basic scientific concepts regarding cardiovascular genetics and genomics followed by state-of-the-art research and applications for treatment of cardiovascular disorders. Expert clinicians and researchers describe illustrative cases for each topic along with detailed discussions of current scientific understanding and its application in current disease management and treatment. Summaries, key teaching points, and illustrations are highlighted to facilitate quick recall and review. The book will be useful for cardiovascular clinicians in training, board preparation, or as a review for those already in clinical practice. Cardiovascular Genetics and Genomics in Clinical Practice features: Clinical case scenarios to illuminate the basic concepts of cardiovascular genetics and genomics as they are used in daily practice Explanation of fundamental concepts as a foundation for more in-depth understanding Detailed discussions of current scientific knowledge and clinical management The expertise of renowned clinician-scientists in the field Real practical insight for practice |
| introduction to risk calculation in genetic counseling: Oxford Desk Reference: Clinical Genetics and Genomics Helen V. Firth, Jane A. Hurst, 2017-09-08 A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations. |
| introduction to risk calculation in genetic counseling: Genetic Disorders Among Arab Populations Ahmad S. Teebi, Talaat I. Farag, 1997 Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management. |
| introduction to risk calculation in genetic counseling: Génétique médicale CNEPGM (Collège National des Enseignants et Praticiens de Gé, Caroline Schluth-Bolard, Martin Krahn, Damien Sanlaville, 2022-08-30 Conforme au programme du Diplôme de formation générale en sciences médicales (DFGSM 2-3), cet ouvrage apporte les connaissances fondamentales en génétique médicale. Tous les items relatifs à la discipline sont abordés en 32 chapitres. Après une introduction détaillée sur l'architecture, la structure et la fonction du génome humain, l'ouvrage s'articule autour de quatre grands axes : • génétique formelle ; • génétique chromosomique ; • génétique moléculaire ; • génétique et pratique médicale. La dernière partie est consacrée aux maladies rares et maladies génétiques qui sont au programme des ECN/EDN. Cette 2e édition procède à l'allègement et à la mise à jour de l'ensemble des chapitres, et introduit de nouveaux chapitres sur la génétique des maladies complexes, la médecine génomique et les maladies rares. Le propos est clair et didactique, étayé de plus de 160 schémas, illustrations et tableaux, tout en couleurs. Le cours est complété par de nouveaux QCM, QCS, QRU et QROC corrigés en fin d'ouvrage, permettant de tester ses connaissances. Des compléments numériques permettent de télécharger l'intégralité des illustrations et donnent accès à deux textes sur le conseil génétique. Ce livre s'adresse tout particulièrement aux étudiants de DFGSM2-3 Médecine, aux étudiants en maïeutique ou en pharmacie et aux étudiants en Licence et Master de biologie. Il constitue également un livre de référence pour tout étudiant en DFASM pour la préparation des items de génétique au programme des ECN/EDN, ainsi que pour tout interne débutant la spécialité de génétique médicale. Il intéressera enfin les sages-femmes, infirmières et conseillers en génétique, ainsi que tout praticien ou interne dont la spécialité présente un attrait à la génétique médicale. Élaboré sous l'égide du Collège national des enseignants et praticiens de génétique médicale, cet ouvrage a été coordonné par Martin Krahn, Damien Sanlaville et Caroline Schluth-Bolard. Il est le fruit du travail collectif de près de 80 enseignants et praticiens, exerçant tous leurs activités médicales, d'enseignement ou de recherches dans le domaine de la génétique clinique, chromosomique ou moléculaire |
| introduction to risk calculation in genetic counseling: Thompson & Thompson Genetics in Medicine Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard, 2015-05-21 Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. Immerse yourself in updated graphics, full-color text, illustrations, line diagrams, and clinical photos of genetic diseases. Explore the latest genetic content available in order to remain up to date on the most current trends in the field. Take advantage of a double-page clinical case study section that demonstrates and reinforces general principles of disease inheritance, pathogenesis, diagnosis, management, and counseling. Enhance your critical thinking skills and better retain information. Each chapter ends with up to 5 quick genetic problems related to what has just been reviewed, with answers provided in the back of the book. Student Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices. You'll also access USMLE-style and multiple choice questions. |
| introduction to risk calculation in genetic counseling: Telling Genes Alexandra Minna Stern, 2012-11-01 The history of contemporary genetic counseling, including its medical, personal, and ethical dimensions. Winner of the CHOICE Outstanding Academic Title of the Choice ACRL For sixty years genetic counselors have served as the messengers of important information about the risks, realities, and perceptions of genetic conditions. More than 2,500 certified genetic counselors in the United States work in clinics, community and teaching hospitals, public health departments, private biotech companies, and universities. Telling Genes considers the purpose of genetic counseling for twenty-first century families and society and places the field into its historical context. Genetic counselors educate physicians, scientific researchers, and prospective parents about the role of genetics in inherited disease. They are responsible for reliably translating test results and technical data for a diverse clientele, using scientific acumen and human empathy to help people make informed decisions about genomic medicine. Alexandra Minna Stern traces the development of genetic counseling from the eugenics movement of the early twentieth century to the current era of human genomics. Drawing from archival records, patient files, and oral histories, Stern presents the fascinating story of the growth of genetic counseling practices, principles, and professionals. |
| introduction to risk calculation in genetic counseling: Essential Medical Genetics Edward S. Tobias, Michael Connor, Malcolm Ferguson-Smith, 2011-11-15 Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes. Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book). The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions. This title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from iTunes, Google Play or the MedHand Store. |
| introduction to risk calculation in genetic counseling: Handbook of In Vitro Fertilization David K. Gardner, Carlos Simón, 2017-06-26 The new edition of this text admirably fills the need for a primer on the central topics involved in Human In Vitro Fertilization (IVF). Supplying a comprehensive and hands-on approach to IVF, this source presents established state-of-the-art procedures and techniques, as well as the most current research in the field. Expert contributors also discuss the history of IVF and the potential of future research. Offering essential information for reproductive endocrinologists, IVF practitioners and embryologists, this book guides readers though every step of human assisted conception, from patient pre-treatment to monitoring of outcomes. |
| introduction to risk calculation in genetic counseling: Medical Genetics at a Glance Dorian J. Pritchard, Bruce R. Korf, 2013-07-08 Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award. |
| introduction to risk calculation in genetic counseling: Vogel and Motulsky's Human Genetics Friedrich Vogel, Arno G. Motulsky, 2013-04-17 The first two editions of this book, published in 1979 and in 1986, were well re ceived by the scientific community. Translations into Italian, Japanese, and Rus sian suggest that this book was regarded useful in many parts of the world. Mean while, human genetics has seen dramatic developments, and the molecular revo lution has attracted thousands of scientists, including many molecular biologists, to this field. About 3700 human genes have already been mapped to chromosomal sites. Many such genes have been cloned, and the various mutations causing dis ease have been identified. Novel mutational mechanisms such as expanded trinu cleotide repeats have been discovered in conditions such as Huntington's disease and the fragile X syndrome of mental retardation. Gene action now can often be elucidated by studying the pathway from gene to phenotype following positional cloning rather than working in the opposite direction, as was customarily done be fore the tools of new geneticswere available. In an increasing number of genetic diseases, the pathogenic mechanisms have been elucidated with positive conse quences for prevention and treatment. It therefore became necessary to rewrite al most completely major portions of this book. These developments are now making genetics arguably the leading basic science for medicine, as well as a recognized medical speciality. But all these changes do not mean that the entire framework of human genetics had to be reconstructed. |
| introduction to risk calculation in genetic counseling: Informed Consent in Predictive Genetic Testing Jessica Minor, 2015-06-15 This important book proposes revising the current informed consent protocol for predictive genetic testing to reflect the trend toward patient-centered medicine. Emphasizing the predictive aspect of testing, the author analyzes the state of informed consent procedure in terms of three components: comprehension of risk assessment, disclosure to select appropriate treatment, and voluntariness. The book's revised model revisits these cornerstones, restructuring the consent process to allow for expanded comprehension time, enhanced patient safety, greater patient involvement and autonomy, and reduced chance of coercion by family or others. A comparison of the current and revised versions and case studies showing the new model in real-world applications add extra usefulness to this resource. Included in the coverage: The science behind PGT. Understanding genetic risks and probability. The history of informed consent. Revised model of informed consent: comprehension, disclosure, voluntariness, patient safety. Applications of the model in DTC and pleiotropic genetic testing. Implementation of the revised model, and assessing its effectiveness. A milestone in the bioethics literature, Informed Consent in Predictive Genetic Testing will be of considerable interest to genetic counselors, medical and bioethicists, and public health professionals. |
| introduction to risk calculation in genetic counseling: Emery and Rimoin's Essential Medical Genetics David L. Rimoin, Reed E. Pyeritz, Bruce Korf, 2013-05-15 For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com |
| introduction to risk calculation in genetic counseling: Genetic Diseases of the Eye Elias I. Traboulsi, 2012-01-12 This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist. |
| introduction to risk calculation in genetic counseling: The Calculation of Genetic Risks Peter J. Bridge, 1997 It will be the basic aim of this book, writes Peter J. Bridge, to impart to the reader the fundamentals of how we start with laboratory results and end up with numbers representing genetic risks. This practical guide for both clinical and research geneticists explains how to calculate an individual's genetic risk based on information available from genetic testing and from family pedigrees. Bridge begins with the general theory of estimating genetic risks, then progresses through familial and isolated cases, both simple and complex. A major strength of the book lies in the wealth of worked examples provided throughout the text. The disorders are selected to be widely applicable or adaptable as needed. New to this edition are sections on consanguinity, multipoint linkage analysis, nonparametric methods, homozygosity mapping, and physical mapping. Also new is a chapter on other DNA-based calculations, including sections on paternity, zygosity, family reconstructions, and quantification of mitochondrial mutations. From reviews of the first edition: To use a computer package intelligently and safely, you need to have in reserve the ability to do the calculation by hand, at least approximately, so as to appreciate which factors contribute to the risk. And the current computer packages cannot cope with several factors which can crucially affect the final risk, such as germinal mosaicism or the risk of maternal cell contamination... Bridge's book is very thorough. Every combination of pedigree structure and marker data is discussed, with numerous tables showing the result of systematically varying one or more parameters. -- Journal of Medical Genetics A useful reference book.-- American Journal of Human Genetics |
| introduction to risk calculation in genetic counseling: Genetic Testing Neil F. Sharpe, Ronald F. Carter, 2006-01-20 A complete review of the issues with specific recommendations and guidelines. With over 1,000 tests commercially available, genetic testing is revolutionizing medicine. Health care professionals diagnosing and treating patients today must consider genetic factors, the risks and limitations of genetic testing, and the relevant law. Genetic Testing: Care, Consent, and Liability offers the only complete, practical treatment of the genetic, clinical, ethical, and legal issue surrounding genetic testing. The authors present protocols, policies, and models of care that are currently in use, and explain the legal framework for genetic testing and counseling that has developed in North America, particularly with regard to the law of medical malpractice. This essential book features an international roster of esteemed contributors including, Nancy P. Callanan, Bonnie S. LeRoy, Carole H. Browner, H. Mabel Preloran, Riyana Babul-Hirji, Cheryl Shuman, M.J. Esplen, Maren T. Scheuner, Dena S. Davis, JonBeckwith, Lisa Geller, Mark A. Hall, Andrew R. MacRae, David Chitayat, Roxanne Mykitiuk, Stephanie Turnham, Mireille Lacroix, Jinger G, Hoop, Edwin H, Cook, Jr., S. H. Dinwiddie, Elliot S. Gershon, C. Anthony Rupar, Lynn Holt, Bruce R. Korf, Anne Summers, S. Annie Adams, Daniel L. Van Dyke, Rhett P. Ketterling, Erik C. Thorland, Timothy Caulfield, Lorraine Sheremeta, Richard Gold, Jon F. Merz, David Castle, Peter J. Bridge, JS Parboosingh, Patricia T. Kelly, Julianne M. O'Daniel, Allyn McConkie-Rosell, Beatrice Godard, Bartha Maria Knoppers, David Weisbrot. The coverage also includes: * Genetic screening, including prenatal, neonatal, carrier, and susceptibility testing * Diagnosis, risk assessment, confidentiality, and clinical/legal issues related to follow-up * Interpreting test results and communicating them to patients * psychological considerations * Informed consent * Family history evaluations * Referral to medical geneticists and genetic counselors Genetic Testing Care, Consent, and Liability is a must-have resource for clinical geneticists, genetic counselors, specialists, family physicians, nurses, public health professionals, and medical students. |
| introduction to risk calculation in genetic counseling: Genetics of Colorectal Cancer for Clinical Practice Fred H. Menko, 1993-07-31 Colorectal cancer is a collective term for a heterogeneous group of diseases. In a large proportion of cases, the condition is attributable to genetic predisposition. Those directly involved in the treatment of patients with cancer of the large bowel are confronted to an increasing degree with the genetic aspects of the disease. In familial and hereditary forms of the disorder periodic screening of the close relatives of the patients can in principle prevent disease and death from colorectal cancer. Presymptomatic diagnosis by means of DNA technology is now possible in many cases of familial adenomatous polyposis. Genetic diagnosis will be increasingly important for the identification of high-risk groups. This book summarizes those aspects of the genetics of colorectal cancer that are important for clinical pracice. It has been stated that clinicians can contribute to the goal of reducing mortality from cancer by asking each patient about his or her family history of cancer. The aim of this book is to provide a guideline for the management of those situations in which the family history of colorectal cancer is found to be positive. |
| introduction to risk calculation in genetic counseling: National Library of Medicine Current Catalog National Library of Medicine (U.S.), 1992 |
| introduction to risk calculation in genetic counseling: Advances in Genetics , 2014-10-09 The field of genetics is rapidly evolving, and new medical breakthroughs are occurring as a result of advances in our knowledge of genetics. Advances in Genetics continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. Volume 87 presents an eclectic mix of articles of use to all human and molecular geneticists on topics including: gene transfer, fruiting body development and the genetics of Alzheimer's disease; and more. - Includes methods for testing with ethical, legal, and social implications - Critically analyzes future directions - Written and edited by recognized leaders in the field |
| introduction to risk calculation in genetic counseling: Molecular Genetic Pathology Liang Cheng, David Y. Zhang, 2010-01-01 Molecular Genetic Pathology presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Part I examines the clinical areas of molecular biology, genomics, pharmacogenomics and proteomics, while Part II covers the molecular areas of medical genetics, microbiology, hematology, transfusion medicine, oncology and forensic pathology. The volume provides a unique reference for the practicing pathologist and medical geneticist as well as a review book for residents and fellows in training in pathology, medical genetics and molecular genetic pathology. |
| introduction to risk calculation in genetic counseling: Molecular Pathology in Clinical Practice Debra G.B. Leonard, 2007-11-25 This authoritative textbook embodies the current standard in molecular testing for practicing pathologists, and residents and fellows in training. The text is organized into eight sections: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. Discussion of each diagnostic test includes its clinical significance, available assays, quality control and lab issues, interpretation, and reasons for testing. Coverage extends to HIV, hepatitis, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. Includes 189 illustrations, 45 in full-color. This textbook is a classic in the making and a must-have reference. |
| introduction to risk calculation in genetic counseling: A Guide to Genetic Counseling Wendy R. Uhlmann, Jane L. Schuette, Beverly Yashar, 2009-08-03 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. |
| introduction to risk calculation in genetic counseling: Pharmacogenetics Wendell W. Weber, 1997 Genes are important modifiers of human response to drugs, hormones, and toxins. Patients and healthy individuals alike display significant differences in response and suffer adverse effects as a result of exposure to many therapeutic agents as well as occupational chemicals. This introductory text brings together laboratory methods and epidemiological studies for defining the role of heredity in human drug response. The book is divided into two parts. Part I describes the emergence and broad scope of pharmacogenetics from an historical viewpoint, as well as the principles of pharmacology and genetics that are used to evaluate the importance and molecular genetic basis of pharmacologic/toxicologic mechanisms of hypersensitivity in humans and experimental animal models. Part II presents the experimental epidemiologic and clinical evidence for the genetics, molecular basis and clinical significance of thirty-three human traits of pharmacogenetic importance. The author includes an extensive discussion of the role of recombinant DNA technology Thus Part II illustrates the application of the basic principles discussed in Part I to real-life situations. This book will benefit upper-level graduate students in pharmacology, genetics, epidemiology, nursing, and public health, and will serve as a handy reference to pharmacists, epidemiologists, and physicians responsible for the delivery and administration of drugs. |
| introduction to risk calculation in genetic counseling: A Short History of Medical Genetics Peter S. Harper, 2008-10-24 An eminent geneticist, veteran author, OMMG Series Editor, and noted archivist, Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. Dr. Harper has researched the history of genetics and has had personal contact with a host of key figures whose memories and experiences extend back 50 years, and he has interviewed and recorded conversations with many of these important geneticists. Thus, rather than being a conventional history, this book transmits the essence of the ideas and the people involved and how they interacted in advancing- and sometimes retarding- the field. From the origins of human genetics; through the contributions of Darwin, Mendel, and other giants; the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this Short History is written in the author's characteristic clear and personal style, which appeals to geneticists and to all those interested in the story of human genetics. |
| introduction to risk calculation in genetic counseling: Social Issues in America James Ciment, 2015-03-04 Truly comprehensive in scope - and arranged in A-Z format for quick access - this eight-volume set is a one-source reference for anyone researching the historical and contemporary details of more than 170 major issues confronting American society. Entries cover the full range of hotly contested social issues - including economic, scientific, environmental, criminal, legal, security, health, and media topics. Each entry discusses the historical origins of the problem or debate; past means used to deal with the issue; the current controversy surrounding the issue from all perspectives; and the near-term and future implications for society. In addition, each entry includes a chronology, a bibliography, and a directory of Internet resources for further research as well as primary documents and statistical tables highlighting the debates. |
INTRODUCTION Definition & Meaning - Merriam-Webster
The meaning of INTRODUCTION is something that introduces. How to use introduction in a sentence.
How to Write an Introduction, With Examples | Grammarly
Oct 20, 2022 · An introduction should include three things: a hook to interest the reader, some background on the topic so the reader can understand it, and a thesis statement that clearly …
INTRODUCTION | English meaning - Cambridge Dictionary
INTRODUCTION definition: 1. an occasion when something is put into use or brought to a place for the first time: 2. the act…. Learn more.
What Is an Introduction? Definition & 25+ Examples - Enlightio
Nov 5, 2023 · An introduction is the initial section of a piece of writing, speech, or presentation wherein the author presents the topic and purpose of the material. It serves as a gateway for …
Introduction - definition of introduction by The Free Dictionary
Something spoken, written, or otherwise presented in beginning or introducing something, especially: a. A preface, as to a book. b. Music A short preliminary passage in a larger …
INTRODUCTION Definition & Meaning - Merriam-Webster
The meaning of INTRODUCTION is something that introduces. How to use introduction in a sentence.
How to Write an Introduction, With Examples | Grammarly
Oct 20, 2022 · An introduction should include three things: a hook to interest the reader, some background on the topic so the reader can understand it, and a thesis statement …
INTRODUCTION | English meaning - Cambridge Dictionary
INTRODUCTION definition: 1. an occasion when something is put into use or brought to a place for the first time: 2. the act…. Learn …
What Is an Introduction? Definition & 25+ Examples - Enlightio
Nov 5, 2023 · An introduction is the initial section of a piece of writing, speech, or presentation wherein the author presents the topic and purpose of the material. It …
Introduction - definition of introduction by The Free Dictionary
Something spoken, written, or otherwise presented in beginning or introducing something, especially: a. A preface, as to a book. b. Music A short preliminary …
