Quality Issues in Clinical Genetic Services
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
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U. Kristoffersson · J. Schmidtke · J.-J. Cassiman Editors
Quality Issues in Clinical Genetic Services
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Editors Ulf Kristoffersson Department of Clinical Genetics Lund University, and University and Regional Laboratories University Hospital SE-221 85 Lund Sweden [email protected]
Prof. Dr. Jörg Schmidtke Medizinische Hochschule Hannover (MHH) Institute of Human Genetics Carl-Neuberg-Str. 1 30625 Hannover Germany [email protected]
MD Ph.D. J.-J. Cassiman University of Leuven Center f. Human Genetics Lab. For. Gen. & Mol. Arch. Kapucijenvoer 33 3000 Leuven Campus Gasthuisberg Belgium [email protected]
ISBN 978-90-481-3918-7 e-ISBN 978-90-481-3919-4 DOI 10.1007/978-90-481-3919-4 Springer Dordrecht Heidelberg London New York Library of Congress Control Number: 2010922312 © Springer Science+Business Media B.V. 2010 No part of this work may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording or otherwise, without written permission from the Publisher, with the exception of any material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)
Foreword
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 6,700 have a proven or suspected Mendelian based phenotype. Of these, about 2,500 are available for clinical testing based on the identification of the responsible gene defect. Further, altogether it has been estimated that the cumulative prevalence for rare diseases is about 8% of which most have a strong, i.e. single gene background. Adding to that, it is estimated that most other 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 heath 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. Early on international organisations like the European Union became aware of the need of harmonising quality recommendations and have during the last 15 years sponsored several in
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