Download or read book Quality Issues in Clinical Genetic Services written by Ulf Kristoffersson and published by Springer Science & Business Media. This book was released on 2010-06-25 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine who will be at a higher than average risk for a certain disorder. Further it is postulated that in the near future, this genetic profiling could become useful in selecting an appropriate therapy adapted to the genetic constitution of the person. Thus, genetic disorders are not rare. Measuring quality of health care related processes became an issue in the 1990s, mainly in laboratory medicine, but also for hospitals and other health care systems. In many countries national authorities started to implement recommendations, guidelines or legal procedures regulating quality of health care delivery. In laboratory medicine, in parallel, the use of accreditation as a method assuring high quality standards in testing came in use. With the increasing possibilities of performing molecular genetic testing, genetic laboratories needed to become involved in this process. As many genetic disorders are rare, most laboratories worldwide offered analysis for a specific set of disorders, and, therefore, very early on a transborder flow of samples occurred. While international quality criteria (ISO) have been in existence for a number of years, the regulation of quality issues still may differ between countries. Based on their personal experience in the varying fields of quality research and clinical implementation of quality criteria in genetic services the authors of this book share their experience and give examples of the implementation of quality issues in national quality systems worldwide. This book, which is the result of the effort of many persons, is destined to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to the benefit of patients with suspected genetic disorders.

Download or read book Genomic and Personalized Medicine written by Geoffrey S. Ginsburg and published by Academic Press. This book was released on 2012-11-29 with total page 1343 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic and Personalized Medicine, Second Edition - winner of a 2013 Highly Commended BMA Medical Book Award for Medicine - is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

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 647 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 Cancer Nursing written by Connie Henke Yarbro and published by Jones & Bartlett Learning. This book was released on 2005 with total page 1928 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rapid changes in oncology necessitate a comprehensive, up-to-date reference for oncology nurses. For seventeen years, best-selling Cancer Nursing: Principles and Practice has filled this need, supplying oncology nurses with cutting-edge, current information. Now, in its Sixth Edition, Cancer Nursing reflects the constantly shifting progress in the science of oncology, as well as emerging new therapies, new treatment modalities, the latest results from clinical trials, updates on new chemotherapeutic agents and targeted therapies, and new perspectives on supportive care.

Download or read book Direct to consumer Genetic Testing and the Consequences to the Public Health written by United States. Congress. House. Committee on Energy and Commerce. Subcommittee on Oversight and Investigations and published by . This book was released on 2013 with total page 244 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Senate Hearings Before the Committee on Appropriations written by and published by DIANE Publishing. This book was released on 1988 with total page 698 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Genetic Testing written by Neil F. Sharpe and published by John Wiley & Sons. This book was released on 2006-01-20 with total page 622 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book The Value of Systems and Complexity Sciences for Healthcare written by Joachim P Sturmberg and published by Springer. This book was released on 2016-03-01 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: This visionary reframing of health and healthcare uses a complexity science approach to building healthcare systems that are accessible, effective, and prepared for change and challenges. Its holistic map for understanding the human organism emphasizes the interconnectedness of the individual’s physical, psychological, cognitive, and sociocultural functioning. Applications of this approach are described in primary, specialist, and emergency care and at the organizational and policy levels, from translating findings to practice, to problem solving and evaluation. In this model, the differences between disease and illness and treating illness and restoring health are not mere wordplay, but instead are robust concepts reflecting real-world issues and their solutions. Based on the Proceedings of the 1st International Conference of Systems and Complexity for Healthcare, topics covered include: • Coping with complexity and uncertainty: insights from studying epidemiology in family medicine • Anticipation in complex systems: potential implications for improving safety and quality in healthcare • Monitoring variability and complexity at the bedside • Viewing mental health through the lens of complexity science • Ethical complexities in systems healthcare: what care and for whom? • The value of systems and complexity thinking to enable change in adaptive healthcare organizations supported by informatics • If the facts don’t fit the theory, change the theory: implications for health system reform The Value of Systems and Complexity Sciences for Healthcare will interest and inspire health and disease researchers, health professionals, health care planners, health system financiers, health system administrators, health services administrators, health professional educators, and, last but not least, current and future patients.

Download or read book Nutrition and Genomics written by David Castle and published by Academic Press. This book was released on 2009-04-14 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nutrigenomics is the rapidly developing field of science that studies nutrient-gene interaction. This field has broad implications for understanding the interaction of human genomics and nutrition, but can also have very specific implications for individual dietary recommendations in light of personal genetics. Predicted applications for nutrigenomics include genomics-based dietary guidelines and personalized nutrition based on individual genetic tests. These developments have sweeping ethical, legal and regulatory implications for individuals, corporations and governments.This book brings together experts in ethics, law, regulatory analysis, and communication studies to identify and address relevant issues in the emerging field of nutritional genomics. Contributing authors are experts in the social aspects of biotechnology innovation, with expertise in nutrigenomics. From addressing the concern that nutrigenomics will transform food into medicine and undermine pleasures associated with eating to the latest in the science of nutrigenomics, this book provides a world-wide perspective on the potential impact of nutrigenomics on our association with food. - Explores the rapidly developing, yet not fully understood, impact of nutrigenomics on the relationship to food medicalization, genetic privacy, nutrition and health - Provides ground for further exploration to identify issues and provide analysis to aid in policy and regulation development - Provides ethical and legal insights into this unfolding science, as well as serving as a model for thinking about issues arising in other fields of science and technology

Download or read book Departments of Labor and Health and Human Services Education and Related Agencies Appropriations written by United States. Congress. Senate. Committee on Appropriations and published by . This book was released on 2006 with total page 700 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Progress and Challenges in Precision Medicine written by Mukesh Verma and published by Academic Press. This book was released on 2016-12-22 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress and Challenges in Precision Medicine presents an insightful overview to the myriad factors of personalized and precision medicine. The availability of the human genome, large amounts of data on individual genetic variations, environmental interactions, influence of lifestyle, and cutting-edge tools and technologies for big-data analysis have led to the age of personalized and precision medicine. Bringing together a global range of experts on precision medicine, this book collects previously scattered information into one concise volume which covers the most important developments so far in precision medicine and also suggests the most likely avenues for future development. The book includes clinical information, informatics, public policy implications, and information on case studies. It is a useful reference and background work for students, researchers, and clinicians working in the biomedical and medical fields, as well as policymakers in the health sciences. - Provides an overview of the growing field of precision medicine - Contains chapters from geographically diverse experts in their field - Explores important aspects of precision medicine, including applications, ethics, and development

Download or read book Departments of Labor Health and Human Services Education and Related Agencies Appropriations for Fiscal Year 2006 written by United States. Congress. Senate. Committee on Appropriations. Subcommittee on Departments of Labor, Health and Human Services, Education, and Related Agencies and published by . This book was released on 2006 with total page 708 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Policy Politics in Nursing and Health Care written by Diana J. Mason and published by Saunders. This book was released on 2007 with total page 1108 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume enables readers to analyse policy issues, enhance their political knowledge and skills and prepare for leadership roles in policy-making and public health. It cultivates the development of valuable skills including political and policy analysis, conflict management, lobbying, and more.

Download or read book Direct to Consumer Genetic Tests Misleading Test Results are Further Complicated by Deceptive Marketing and Other Questionable Practices written by Gregory Kutz and published by DIANE Publishing. This book was released on 2010-11 with total page 33 pages. Available in PDF, EPUB and Kindle. Book excerpt: In 2006, the auditor investigated companies selling direct-to-consumer (DTC) genetic tests and testified that these companies made medically unproven disease predictions. Experts are concerned that the test results mislead consumers. The auditor was asked to investigate DTC genetic tests currently on the market and the advertising methods used to sell these tests. Kutz purchased 10 tests each from four companies, for $299 to $999 per test. He then selected five donors and sent two DNA samples from each donor to each co.: one using factual info. about the donor and one using fictitious info., such as incorrect age and race or ethnicity. The fictitious consumers received test results that are misleading and of little or no practical use. Illus.

Download or read book Direct to Consumer Genetic Testing written by National Research Council and published by National Academies Press. This book was released on 2011-01-16 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing. Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives. To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.

Download or read book Ethical Conduct of Clinical Research Involving Children written by Institute of Medicine and published by National Academies Press. This book was released on 2004-07-09 with total page 445 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent decades, advances in biomedical research have helped save or lengthen the lives of children around the world. With improved therapies, child and adolescent mortality rates have decreased significantly in the last half century. Despite these advances, pediatricians and others argue that children have not shared equally with adults in biomedical advances. Even though we want children to benefit from the dramatic and accelerating rate of progress in medical care that has been fueled by scientific research, we do not want to place children at risk of being harmed by participating in clinical studies. Ethical Conduct of Clinical Research Involving Children considers the necessities and challenges of this type of research and reviews the ethical and legal standards for conducting it. It also considers problems with the interpretation and application of these standards and conduct, concluding that while children should not be excluded from potentially beneficial clinical studies, some research that is ethically permissible for adults is not acceptable for children, who usually do not have the legal capacity or maturity to make informed decisions about research participation. The book looks at the need for appropriate pediatric expertise at all stages of the design, review, and conduct of a research project to effectively implement policies to protect children. It argues persuasively that a robust system for protecting human research participants in general is a necessary foundation for protecting child research participants in particular.

Download or read book Genome Based Diagnostics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-07-27 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value. Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action.