Genetic Testing Policy Issues For The New Millennium

This report provides a state-of-the art review of advances in genetic testing and of main international policy concerns drawing from the OECD workshop on "Genetic Testing: Policy Issues for the New Millennium", held in Vienna on 23-25 February 2000.

Hearing held by the Subcommittee on Technology. Witnesses include: Raymond G. Kammer, Director, National Institute of Standards and Technology; Dr. Francis S. Collins, Director, National Human Genome Research Institute, National Institutes of Health; Dr. William F. Raub, Deputy Assistant Secretary of Science Policy, Department of Health and Human Services (HHS); and Dr. Michael Watson, Professor of Pediatrics and Genetics, Washington University School of Medicine, Co-Chair, NIH-DoE Task Force of Genetics Testing.

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.

Genetics, Health Care and Public Policy is an introduction to the new discipline of public health genetics. It brings together the insights of genetic and molecular science as a means of protecting and improving the health of the population. Its scope is wide and requires an understanding of genetics, epidemiology, public health and the principles of ethics, law and the social sciences. This book sets out the basic principles of public health genetics for a wide audience from those providing health care to those involved in establishing policy. The emphasis throughout the text is on providing an accessible introduction to the field. The content moves from the basic concepts, including definitions and history, through chapters on genetics, genetic technology, epidemiology, genetics in medicine, genetics in health services, ethical, legal and social implications, to the implications for health policy. It provides one-stop, introductory coverage of this rapidly developing and multidisciplinary field.

"Bioinformatics: Concepts, Methodologies, Tools, and Applications highlights the area of bioinformatics and its impact over the medical community with its innovations that change how we recognize and care for illnesses"--Provided by publisher.

This report presents the results of a survey of over 800 genetic testing laboratory directors in 18 OECD countries. It provides the first detailed overview of the availability and extent of molecular genetic testing across OECD member countries.

"This book provides case studies as well as practical and theoretical chapters on the issues surrounding disruptive technologies, innovation, and global redesign"--Provided by publisher.