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EuroGentest: DNA-based testing for heritable disorders in Europe

Javahera, Poupak; Kaariainen, Helena; Kristoffersson, Ulf LU ; Nippert, Irmgard; Sequeiros, Jorge; Zirnmern, Ron and Schmidtke, Joerg (2008) In Community Genetics 11(2). p.75-120
Abstract
Objectives: Regarding the recent attention to develop policies regarding the provision of clinical genetic testing services, access to, acceptance, utilisation and regulation of genetic services was investigated in selected European countries as well as one non-European country. Methods: Data were collected on the basis of relevant international reports and sources accessible via the internet, from self-designed, internationally administered surveys and with the help of a panel of experts from European countries participating in several workshops as well as from National European Societies of Human Genetics. Results: A selection of divergent health care systems was reviewed and compared (e.g. Finland, Germany, Portugal, Sweden, UK, France,... (More)
Objectives: Regarding the recent attention to develop policies regarding the provision of clinical genetic testing services, access to, acceptance, utilisation and regulation of genetic services was investigated in selected European countries as well as one non-European country. Methods: Data were collected on the basis of relevant international reports and sources accessible via the internet, from self-designed, internationally administered surveys and with the help of a panel of experts from European countries participating in several workshops as well as from National European Societies of Human Genetics. Results: A selection of divergent health care systems was reviewed and compared (e.g. Finland, Germany, Portugal, Sweden, UK, France, Italy, Spain, Czech Republic, Lithuania and Serbia/Montenegro). For the evaluation of clinical validity and utility of genetic testing, background information was provided focussing on DNA-based testing for heritable disorders with a strong genetic component (usually due to the action of a single gene). Conclusions: There is great heterogeneity in genetic testing services among the countries surveyed. It is premature to mandate that genetic testing provided by clinical services meets professional standards regarding clinical validity and utility, because there is to date no consensus within the scientific community and among health care providers to what extent clinical validity and utility can and need to be assessed. Points to consider in the process of developing such standards are proposed. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
eligibility criteria, genetic screening, choice, reproductive, predictive testing, carrier status, clinical utility, clinical validity, analytical validity, genetic testing, evaluation
in
Community Genetics
volume
11
issue
2
pages
75 - 120
publisher
Karger
external identifiers
  • wos:000252835400001
  • scopus:38349193707
ISSN
1422-2795
DOI
10.1159/000111984
language
English
LU publication?
yes
id
ba0e7dd6-262c-4832-99b9-e22cd286e5f5 (old id 1199180)
date added to LUP
2008-09-11 10:46:49
date last changed
2017-08-13 03:39:10
@article{ba0e7dd6-262c-4832-99b9-e22cd286e5f5,
  abstract     = {Objectives: Regarding the recent attention to develop policies regarding the provision of clinical genetic testing services, access to, acceptance, utilisation and regulation of genetic services was investigated in selected European countries as well as one non-European country. Methods: Data were collected on the basis of relevant international reports and sources accessible via the internet, from self-designed, internationally administered surveys and with the help of a panel of experts from European countries participating in several workshops as well as from National European Societies of Human Genetics. Results: A selection of divergent health care systems was reviewed and compared (e.g. Finland, Germany, Portugal, Sweden, UK, France, Italy, Spain, Czech Republic, Lithuania and Serbia/Montenegro). For the evaluation of clinical validity and utility of genetic testing, background information was provided focussing on DNA-based testing for heritable disorders with a strong genetic component (usually due to the action of a single gene). Conclusions: There is great heterogeneity in genetic testing services among the countries surveyed. It is premature to mandate that genetic testing provided by clinical services meets professional standards regarding clinical validity and utility, because there is to date no consensus within the scientific community and among health care providers to what extent clinical validity and utility can and need to be assessed. Points to consider in the process of developing such standards are proposed.},
  author       = {Javahera, Poupak and Kaariainen, Helena and Kristoffersson, Ulf and Nippert, Irmgard and Sequeiros, Jorge and Zirnmern, Ron and Schmidtke, Joerg},
  issn         = {1422-2795},
  keyword      = {eligibility criteria,genetic screening,choice,reproductive,predictive testing,carrier status,clinical utility,clinical validity,analytical validity,genetic testing,evaluation},
  language     = {eng},
  number       = {2},
  pages        = {75--120},
  publisher    = {Karger},
  series       = {Community Genetics},
  title        = {EuroGentest: DNA-based testing for heritable disorders in Europe},
  url          = {http://dx.doi.org/10.1159/000111984},
  volume       = {11},
  year         = {2008},
}