Webbläsaren som du använder stöds inte av denna webbplats. Alla versioner av Internet Explorer stöds inte längre, av oss eller Microsoft (läs mer här: * https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Var god och använd en modern webbläsare för att ta del av denna webbplats, som t.ex. nyaste versioner av Edge, Chrome, Firefox eller Safari osv.

EuroGentest: DNA-based testing for heritable disorders in Europe

In English

Författare

  • Poupak Javahera
  • Helena Kaariainen
  • Ulf Kristoffersson
  • Irmgard Nippert
  • Jorge Sequeiros
  • Ron Zirnmern
  • Joerg Schmidtke

Summary, in English

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.

Publiceringsår

2008

Språk

Engelska

Sidor

75-120

Publikation/Tidskrift/Serie

Community Genetics

Volym

11

Issue

2

Dokumenttyp

Artikel i tidskrift

Förlag

Karger

Ämne

  • Medical Genetics

Nyckelord

  • eligibility criteria
  • genetic screening
  • choice
  • reproductive
  • predictive testing
  • carrier status
  • clinical utility
  • clinical validity
  • analytical validity
  • genetic testing
  • evaluation

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1422-2795