Genetic Counseling

Featuring chapters on breast cancer, colon cancer, other solid tumors, clients and families, and genetic test results and follow-up. This is the only reference and clinical book on the market for cancer genetics counselors and other healthcare providers who must quickly assimilate complex and ever-changing data on the hereditary risk for cancer.

Includes information on genetic counselling, ethical, legal/regulatory, and social issues related to the practice of genomic medicine from leaders in the field. Including introductory chapter highlights differences between personalized and traditional medicine, promising areas of current research, and challenges to incorporate the latest research discoveries and practice. Also includes case studies and lab questions which highlight the collaborative approach to the science.

This text offers step-by-step guidance for conducting research, from the development of a question to the publication of findings. Genetic counseling examples, user-friendly worksheets, and practical tips guide readers through the research and publication processes. With a highly accessible, pedagogical approach, this book will help promote quality research by genetic counselors and research supervisors--and in turn, increase the knowledge base for genetic counseling practice, other aspects of genetic counseling service delivery, and professional education.

A clinically relevant overview of the dynamic and difficult aspects of cancer patient care. The chapters on syndromes are divided by type of cancer, and each includes discussions of risk assessment, indications for genetic testing, interpretation of test results, and integration into clinical management of risk estimates and results of genetic testing.

Easy to use, and useful when kept close at hand in the room where you work. This book is divided into three parts and looks at a wide array of genetic counselling topics. Starting with “General Aspects of Genetic Counselling” then looking at “Specific Organ Systems” and ending with “The Wider Picture” which looks at genetics and society.

The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients.

Advances in genetics are transforming estimates of an individual's risk of developing cancer and approaches to prevention and management of cancer in those who may have increased susceptibility. Identifying and caring for patients with hereditary cancer syndromes and their family members present a complex clinical, scientific and social challenge. This textbook, by leading experts at Massachusetts General Hospital Cancer Center, highlights the current understanding of the genetics of hereditary cancers of the breast, ovary, colorectum, stomach, pancreas, kidney, skin, and endocrine organs. Practical guidelines for the use of genetic testing, cancer screening and surveillance, prophylactic surgery, and promising targeted therapeutic agents are discussed. In addition, ongoing research involving genome-wide screens to identify novel modest risk-associated genetic loci are explored, along with new approaches to the application of genetic markers in guiding therapeutic options.

The role of molecular genetics in the treatment of malignancy continues to grow at an astonishing rate. Today’s subspecialized multidisciplinary approach to oncology has incorporated advances in targeted molecular therapy, prognosis, risk assessment, and prevention—all based at least in part on molecular diagnostics and imaging. Inside this cutting-edge resource, readers will explore broad, comprehensive perspectives on the current trends in molecular diagnosis of cancer and personalized cancer medicine. Authoritative discussions share insights from noted experts in cancer research, clinical trials, molecular diagnostics, personalized therapy, bioinformatics, and federal regulations. From the basic mechanisms of carcinogenesis to the most advanced molecular screening, staging, and treatment technologies, readers will discover clear and straightforward discussions directly relevant to patient diagnosis and care.

Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

Smith's Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. This esteemed medical reference book provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones. Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes. Efficiently identify genetic disorders in your patients with the inclusion of nearly 20 recently recognized entities/syndromes, as well as new chapters on Microdeletions and Microduplication Syndromes.

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.