Quality Issues In Clinical Genetic Services

Author : Ulf Kristoffersson
Publisher : Springer Science & Business Media
ISBN 13 : 9048139198
Total Pages : 393 pages
Book Rating : 4.94/5 ( download)

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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 393 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.

Author : Ulf Kristoffersson
Publisher :
ISBN 13 : 9789048139545
Total Pages : 420 pages
Book Rating : 4.46/5 ( download)

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Download or read book Quality Issues in Clinical Genetic Services written by Ulf Kristoffersson and published by . This book was released on 2010-06-27 with total page 420 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.82/5 ( download)

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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.

Author : A. E. Fryer
Publisher : Royal College of Physicians
ISBN 13 : 9781860160653
Total Pages : 30 pages
Book Rating : 4.54/5 ( download)

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Download or read book Clinical Genetic Services written by A. E. Fryer and published by Royal College of Physicians. This book was released on 1998 with total page 30 pages. Available in PDF, EPUB and Kindle. Book excerpt: The report describes the state of genetic services and counselling centres, making clear those items that indicate good practice and high quality service.

Author : Samiran Nundy
Publisher : Springer Nature
ISBN 13 : 9811652481
Total Pages : 475 pages
Book Rating : 4.86/5 ( download)

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Download or read book How to Practice Academic Medicine and Publish from Developing Countries? written by Samiran Nundy and published by Springer Nature. This book was released on 2021-10-23 with total page 475 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is an open access book. The book provides an overview of the state of research in developing countries – Africa, Latin America, and Asia (especially India) and why research and publications are important in these regions. It addresses budding but struggling academics in low and middle-income countries. It is written mainly by senior colleagues who have experienced and recognized the challenges with design, documentation, and publication of health research in the developing world. The book includes short chapters providing insight into planning research at the undergraduate or postgraduate level, issues related to research ethics, and conduct of clinical trials. It also serves as a guide towards establishing a research question and research methodology. It covers important concepts such as writing a paper, the submission process, dealing with rejection and revisions, and covers additional topics such as planning lectures and presentations. The book will be useful for graduates, postgraduates, teachers as well as physicians and practitioners all over the developing world who are interested in academic medicine and wish to do medical research.

Author : U. S. Department of Health and Human Services
Publisher : CreateSpace
ISBN 13 : 9781484124420
Total Pages : 110 pages
Book Rating : 4.21/5 ( download)

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Download or read book Addressing Challenges in Genetic Test Evaluation written by U. S. Department of Health and Human Services and published by CreateSpace. This book was released on 2013-04-15 with total page 110 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic testing is a rapidly expanding area with many clinical applications. While the introduction of new genetic tests creates tremendous potential for improving patient care, it is essential to evaluate these tests thoroughly to ensure that they are accurate and lead to improved patient outcomes when used in clinical practice settings. While the general principles for evaluating genetic tests are similar to those for evaluating other clinical tests, there are differences in how the principles are applied and the degree to which certain issues are relevant. The context for genetic testing is often more complex than that of other clinical tests. Evaluating the clinical impact of genetic tests under a broad range of clinical scenarios, particularly when the evaluation involves heritable conditions, requires use of appropriate frameworks. To date, systematic reviewers have not been consistent in their approaches to evaluating genetic tests. Clarifying a set of analytic frameworks customized for different testing scenarios but sharing the same principles could be beneficial to the practice of genetic testing evaluation. Another challenge in evaluating genetic tests is the assessment of analytic validity. Analytic validity refers to the ability of a laboratory test to accurately and reliably measure the properties or characteristics it is intended to measure (e.g., the presence of a gene mutation). Evaluation of a genetic test's analytic validity is often required as part of the effort to establish the aforementioned “chain of evidence.” The paucity of published data and a lack of an optimized search strategy for identifying data on analytic validity from gray literature remain a major barrier to evaluating analytic validity of genetic tests. Meanwhile, there is a lack of established quality assessment guidance for assessing analytic validity studies when they are identified. To address these important issues related to genetic test evaluation, the Agency for Healthcare Research and Quality commissioned this report. The report addressed the following four Key Questions: Key Question 1: Is it feasible to clarify a comprehensive framework or a limited set of frameworks for evaluating genetic tests by modifying existing frameworks? Key Question 2: What are the strengths and limitations of different approaches to literature searching to assess evidence on variability in genetic and laboratory testing? Is there an optimal approach to literature search? Key Question 3: Is it feasible to apply existing quality rating criteria to analytic validity studies on genetic tests? Is there an optimal quality rating instrument for these studies? Key Question 4: What are existing gaps in evidence on sources and contributors of variability common to all genetic tests, or to specific categories of genetic tests? What approaches will lead to generating data to fill these gaps? These four key questions fall into two categories that are intrinsically connected but different in scope: evaluation frameworks and analytic validity

Author : Dianne M. Bartels
Publisher : Transaction Publishers
ISBN 13 : 9780202368146
Total Pages : 212 pages
Book Rating : 4.49/5 ( download)

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Download or read book Prescribing Our Future written by Dianne M. Bartels and published by Transaction Publishers. This book was released on with total page 212 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.

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309485258
Total Pages : 127 pages
Book Rating : 4.58/5 ( download)

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Download or read book Understanding Disparities in Access to Genomic Medicine written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2019-01-28 with total page 127 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic medicine is defined as the routine use of genomic information about an individual as part of his or her clinical care as well as the health outcomes and policy implications of that clinical use. It is one approach that has the potential to improve the quality of health care by allowing practitioners to tailor prevention, diagnostic, and treatment strategies to individual patients. In recent years, research breakthroughs, technological advances, and the decreasing cost of DNA sequencing have led to the wider adoption of genomic medicine. However, as with the introduction of new technologies into health care, there are concerns that genetic and genomic testing and services will not reach all segments of the population both now and in the near future, and there remains a gap in knowledge regarding potential health care disparities in genomic medicine and precision health approaches. On June 27, 2018, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to examine the gaps in knowledge related to access to genomic medicine and to discuss health care disparities and possible approaches to overcoming the disparate use of genomic medicine among populations. Workshop participants discussed research on access to genetics and genomics services in medically underserved areas, model programs of care for diverse patient populations, and current challenges and possible best practices for alleviating health care disparities as they relate to genomics-based approaches. This publication summarizes the presentations and discussions from the workshop.

Author : Jennifer Wiggins
Publisher : Oxford University Press
ISBN 13 : 0199757410
Total Pages : 225 pages
Book Rating : 4.11/5 ( download)

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Download or read book Getting the Message Across written by Jennifer Wiggins and published by Oxford University Press. This book was released on 2013-03-14 with total page 225 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides practical advice to assist genetic counselors, geneticists, and other health professionals wanting to engage appropriately with different clients from different communities — patients who are hearing and/or visually impaired, patients with diverse sex development or religious backgrounds, and those who are available only through interpreter or telephone consultation.

Author : Peter S. Harper
Publisher : Taylor & Francis
ISBN 13 :
Total Pages : 276 pages
Book Rating : 4.08/5 ( download)

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Download or read book Genetics, Society and Clinical Practice written by Peter S. Harper and published by Taylor & Francis. This book was released on 1997 with total page 276 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book examines, from both ethical and clinical perspectives, the impact of increasing genetic knowledge on individuals and families. The authors use their experience of working at the "coal face" of clinical genetics to describe the social implications arising from the ability to rest for an increasing number of genetic diseases. Current controversial issues such as genetic testing and insurance, early diagnosis of late onset disorders, population screening, and abuses of genetics, are all described with great clarity. Several of the chapters are based on lead articles and editorials the authors have been asked to write for The Lancet and British Medical Journal. The book provides a concise introduction to the effects on individuals of the practical issues associated with genetic testing and therefore should be essential reading for all involved in clinical genetics.