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The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes

Robin Fears, Volker ter Meulen, the EASAC-FEAM Working Group and Anne De Paepe UGent (2013) EUROPEAN JOURNAL OF HUMAN GENETICS. 21(7). p.703-707
abstract
Direct-to-consumer (DTC) genetic testing services raise scientific, regulatory and ethical questions. A report was prepared by consultation with an expert Working Group and published by the academies of science (European Academies of Science Advisory Council, EASAC) and medicine (Federation of European Academies of Medicine, FEAM). This report reviews current scientific evidence, ascertains the principles that should underpin the options for action by policy-makers, and discusses the potential for devising proportionate and flexible regulation that enables future innovation, taking account of the work of other expert groups, most notably the European Society of Human Genetics. EASAC-FEAM concluded that DTC genetic testing has little clinical value at present, and expresses especial caution in several specific respects, for example relating to testing for high penetrance, serious disorders, prenatal screening, nutrigenomic and pharmacogenetic testing. It was emphasised that regulation must be on the basis that claims about the link between genetic marker and disease are scientifically valid. Other key issues to address include quality assurance (that includes the professional interpretation of results), transparent supply of accurate information, consideration of the implications for established health services, and clarification of consent procedures for any use of data for research purposes. There are important implications: for the European Commission, in revising the Directive on In Vitro Diagnostic Medical Devices; for professional bodies, in supporting training and guideline development; for the broader research community, in generating the evidence base; and for the public health community, in improving the routine translation of research advances into clinical practice.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
GENOME, FRAMEWORK, ALZHEIMERS-DISEASE, PROFESSIONALS
journal title
EUROPEAN JOURNAL OF HUMAN GENETICS
Eur. J. Hum. Genet.
volume
21
issue
7
pages
703 - 707
Web of Science type
Article
Web of Science id
000320367500005
JCR category
GENETICS & HEREDITY
JCR impact factor
4.225 (2013)
JCR rank
38/165 (2013)
JCR quartile
1 (2013)
ISSN
1018-4813
DOI
10.1038/ejhg.2012.238
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
3157982
handle
http://hdl.handle.net/1854/LU-3157982
date created
2013-03-06 10:13:37
date last changed
2016-12-19 15:45:59
@article{3157982,
  abstract     = {Direct-to-consumer (DTC) genetic testing services raise scientific, regulatory and ethical questions. A report was prepared by consultation with an expert Working Group and published by the academies of science (European Academies of Science Advisory Council, EASAC) and medicine (Federation of European Academies of Medicine, FEAM). This report reviews current scientific evidence, ascertains the principles that should underpin the options for action by policy-makers, and discusses the potential for devising proportionate and flexible regulation that enables future innovation, taking account of the work of other expert groups, most notably the European Society of Human Genetics. EASAC-FEAM concluded that DTC genetic testing has little clinical value at present, and expresses especial caution in several specific respects, for example relating to testing for high penetrance, serious disorders, prenatal screening, nutrigenomic and pharmacogenetic testing. It was emphasised that regulation must be on the basis that claims about the link between genetic marker and disease are scientifically valid. Other key issues to address include quality assurance (that includes the professional interpretation of results), transparent supply of accurate information, consideration of the implications for established health services, and clarification of consent procedures for any use of data for research purposes. There are important implications: for the European Commission, in revising the Directive on In Vitro Diagnostic Medical Devices; for professional bodies, in supporting training and guideline development; for the broader research community, in generating the evidence base; and for the public health community, in improving the routine translation of research advances into clinical practice.},
  author       = {Fears, Robin  and ter Meulen, Volker  and EASAC-FEAM Working Group, the and De Paepe, Anne},
  issn         = {1018-4813},
  journal      = {EUROPEAN JOURNAL OF HUMAN GENETICS},
  keyword      = {GENOME,FRAMEWORK,ALZHEIMERS-DISEASE,PROFESSIONALS},
  language     = {eng},
  number       = {7},
  pages        = {703--707},
  title        = {The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes},
  url          = {http://dx.doi.org/10.1038/ejhg.2012.238},
  volume       = {21},
  year         = {2013},
}

Chicago
Fears, Robin , Volker ter Meulen, the EASAC-FEAM Working Group, and Anne De Paepe. 2013. “The Perspective from EASAC and FEAM on Direct-to-consumer Genetic Testing for Health-related Purposes.” European Journal of Human Genetics 21 (7): 703–707.
APA
Fears, R., ter Meulen, V., EASAC-FEAM Working Group, the, & De Paepe, A. (2013). The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes. EUROPEAN JOURNAL OF HUMAN GENETICS, 21(7), 703–707.
Vancouver
1.
Fears R, ter Meulen V, EASAC-FEAM Working Group the, De Paepe A. The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes. EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(7):703–7.
MLA
Fears, Robin , Volker ter Meulen, the EASAC-FEAM Working Group, et al. “The Perspective from EASAC and FEAM on Direct-to-consumer Genetic Testing for Health-related Purposes.” EUROPEAN JOURNAL OF HUMAN GENETICS 21.7 (2013): 703–707. Print.