Quality Issues in Clinical Genetic Services

  • Ulf Kristoffersson
  • Jörg Schmidtke
  • J. J. Cassiman

Table of contents

  1. Front Matter
    Pages i-xxv
  2. Ségolène Aymé, Mariana Jovanovic, Ioana Caron, Ana Rath
    Pages 33-40
  3. Stuart Hogarth, David Barton, David Melzer
    Pages 49-62
  4. Martin J. Somerville, Diane J. Allingham-Hawkins
    Pages 83-90
  5. Sylvia A. Metcalfe, Agnes Bankier
    Pages 91-101
  6. Bin Chen, D. Joe Boone
    Pages 113-128
  7. Poupak Javaher, Jörg Schmidtke
    Pages 147-156
  8. Wybo Dondorp, Guido de Wert, Martina C. Cornel
    Pages 165-172
  9. Wolf Rogowski, Per Carlsson, Ulf Kristoffersson
    Pages 173-182
  10. Marion McAllister
    Pages 183-189
  11. Helen Wallace
    Pages 191-199
  12. Geertrui Van Overwalle
    Pages 251-265
  13. Els. Dequeker
    Pages 277-286
  14. Rob Elles, Outi Kämäräinen
    Pages 287-296
  15. Clemens R. Mueller, Robert G. Elles
    Pages 297-303
  16. Ros Hastings, Rod Howell
    Pages 305-314
  17. Helena Kääriäinen
    Pages 341-351
  18. Gerry Evers-Kiebooms
    Pages 353-360
  19. Alastair Kent, Alex McKeown, Celine Lewis
    Pages 381-388
  20. Back Matter
    Pages 389-393

About this book


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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Editors and affiliations

  • Ulf Kristoffersson
    • 1
  • Jörg Schmidtke
    • 2
  • J. J. Cassiman
    • 3
  1. 1.Dept. Clinical GeneticsUniversity of LundLundSweden
  2. 2.Zentrum Kinderheilkunde, Inst. HumangenetikMedizinische Hochschule Hannover (MHH)HannoverGermany
  3. 3.Center f. Human Genetics, Lab. For. Gen. & Mol. Arch.University of LeuvenLeuvenBelgium

Bibliographic information