rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Quality Issues in Clinical Genetic Services
  name:
    name part: Kristoffersson, Ulf.
    role:
      role term: editor.
  name:
    name part: Schmidtke, Jörg.
    role:
      role term: editor.
  name:
    name part: Cassiman, J. J.
    role:
      role term: editor.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: ne
    date issued: 2010
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: XXV, 393 p. online resource.
  abstract: 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 experie…
  table of contents: Improving Quality and Harmonization of Standards in Clinical Genetic Services in Europe: The EuroGentest Network of Excellence -- The CanGèneTest Pan-Canadian Research Consortium on Genetic Laboratory Services -- Regulating Genetic Testing: The Relevance of Appropriate Definitions -- Genetic Diseases as Rare Diseases: A European Policy View -- European Regulatory Issues Related to Quality in Provision of Genetic Service -- The European IVD Directive and Genetic Testing -- Quality Issues in Genetics Services in the United Kingdom -- The Primary Care Perspective of Quality in Clinical Genetics Service – United Kingdom as an Example -- Regulation of Genetic Testing/Service in Canada -- Quality Issues in Clinical Genetic Services in Australia -- Clinical Genetic Testing and Services – The US Perspective -- US Oversight and Regulation of Genetic Testing -- Regulatory Issues in Clinical and Laboratory Genetics in Developing Countries; Examples from Latin America -- Assuring Quality When Establishing Medical Genetic Services in Middle- and Low-Income Nations -- Clinical Validity and Utility of Genetic Testing in Heritable Disorders -- Clinical Validity and Utility of Genetic Testing in Common Multifactorial Diseases -- The Quality of Genetic Screening: An Integral Approach -- The Use of Principles in Allocating Scarce Health Care Resources for Genetic Tests -- Outcome Measures in Clinical Genetics Services -- Direct to Consumer Testing -- Competency Based Core Curriculum for Training Specialists in Clinical Genetics -- Ensuring Education and Quality in the Practice of Health Professionals (Non-medical) Working in Genetic Services -- Quality Issues in Clinical Genetic Services: Ethical Aspects -- Democratic Expert Influence Through Bioethical Advisory Committees? The Case of PGD Legislation in Sweden -- Quality Issues in Clinical Genetic Services; Regulatory Issues and International Conventions -- IPR Issues and High Quality Genetic Testing -- Quality Issues in the Evaluati…
  note: edited by Ulf Kristoffersson, Jörg Schmidtke, J. J. Cassiman.
  subject:
    topic: Medicine
  subject:
    topic: Human genetics
  subject:
    topic: Laboratory medicine
  subject:
    topic: Medical education
  subject:
    topic: Biomedicine
  subject:
    topic: Laboratory Medicine
  subject:
    topic: Medicine/Public Health, general
  subject:
    topic: Human Genetics
  subject:
    topic: Medical Education
  classification: R108
  classification: 610.724
  related item:
    title info:
      title: Springer eBooks
  identifier: 9789048139194
  identifier: http://dx.doi.org/10.1007/978-90-481-3919-4
  record info:
    record creation date: 100628
    record change date: 20151125162359.0
    record identifier: 978-90-481-3919-4