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Genetic Screening in Europe

Javaher, P.; Nyoungui, E.; Kaariainen, H.; Kristoffersson, Ulf LU ; Nippert, I.; Sequeiros, J. and Schmidtke, J. (2010) In Public Health Genomics 13(7-8). p.524-537
Abstract
Genetic screening has been defined as any kind of test performed systematically for the early detection or exclusion of a genetic disease, genetic predisposition or resistance to a disease, or to determine whether a person carries a gene variant that may produce disease in his or her offspring. In comparison to 'genetic testing', the term 'genetic screening' should be reserved for the explicit and systematic application of a diagnostic genetic test across a whole population of asymptomatic people (population screening) or a subset of a population such as pregnant women (prenatal/antenatal screening) or newborn infants (neonatal screening). This survey intends to present the current (2006-2008) status of genetic screening and the... (More)
Genetic screening has been defined as any kind of test performed systematically for the early detection or exclusion of a genetic disease, genetic predisposition or resistance to a disease, or to determine whether a person carries a gene variant that may produce disease in his or her offspring. In comparison to 'genetic testing', the term 'genetic screening' should be reserved for the explicit and systematic application of a diagnostic genetic test across a whole population of asymptomatic people (population screening) or a subset of a population such as pregnant women (prenatal/antenatal screening) or newborn infants (neonatal screening). This survey intends to present the current (2006-2008) status of genetic screening and the organization of genetic screening programmes in selected European countries as a background for future attempts to harmonize standards and procedures of genetic screening, an explicit aim of the European Network of Excellence, EuroGentest (www.eurogentest.org). Our report builds on the first comprehensive assessment of genetic screening programmes in Germany by the European Society of Human Genetics, starting with a workshop of experts in 1999, the production of background documentation in 2000, and a final report in 2003. Copyright (C) 2010 S. Karger AG, Basel (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Cascade, Neonatal screening, Population screening, Antenatal screening, screening
in
Public Health Genomics
volume
13
issue
7-8
pages
524 - 537
publisher
Karger
external identifiers
  • wos:000285011900016
  • scopus:78650223092
ISSN
1662-8063
DOI
10.1159/000294998
language
English
LU publication?
yes
id
4153ed51-b95a-43f1-950f-b36b284592a0 (old id 1773664)
date added to LUP
2011-02-01 15:34:58
date last changed
2018-05-29 12:29:54
@article{4153ed51-b95a-43f1-950f-b36b284592a0,
  abstract     = {Genetic screening has been defined as any kind of test performed systematically for the early detection or exclusion of a genetic disease, genetic predisposition or resistance to a disease, or to determine whether a person carries a gene variant that may produce disease in his or her offspring. In comparison to 'genetic testing', the term 'genetic screening' should be reserved for the explicit and systematic application of a diagnostic genetic test across a whole population of asymptomatic people (population screening) or a subset of a population such as pregnant women (prenatal/antenatal screening) or newborn infants (neonatal screening). This survey intends to present the current (2006-2008) status of genetic screening and the organization of genetic screening programmes in selected European countries as a background for future attempts to harmonize standards and procedures of genetic screening, an explicit aim of the European Network of Excellence, EuroGentest (www.eurogentest.org). Our report builds on the first comprehensive assessment of genetic screening programmes in Germany by the European Society of Human Genetics, starting with a workshop of experts in 1999, the production of background documentation in 2000, and a final report in 2003. Copyright (C) 2010 S. Karger AG, Basel},
  author       = {Javaher, P. and Nyoungui, E. and Kaariainen, H. and Kristoffersson, Ulf and Nippert, I. and Sequeiros, J. and Schmidtke, J.},
  issn         = {1662-8063},
  keyword      = {Cascade,Neonatal screening,Population screening,Antenatal screening,screening},
  language     = {eng},
  number       = {7-8},
  pages        = {524--537},
  publisher    = {Karger},
  series       = {Public Health Genomics},
  title        = {Genetic Screening in Europe},
  url          = {http://dx.doi.org/10.1159/000294998},
  volume       = {13},
  year         = {2010},
}