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Quality Issues in Clinical Genetic Services (Paperback, 2010 ed.)
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Quality Issues in Clinical Genetic Services (Paperback, 2010 ed.)
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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.
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