Login to MyKarger

New to MyKarger? Click here to sign up.



Login with Facebook

Forgot your password?

Authors, Editors, Reviewers

For Manuscript Submission, Check or Review Login please go to Submission Websites List.

Submission Websites List

Institutional Login
(Shibboleth or Open Athens)

For the academic login, please select your country in the dropdown list. You will be redirected to verify your credentials.

Original Paper

Genetic Screening in Europe

Javaher P.a · Nyoungui E.a · Kääriäinen H.c, d · Kristoffersson U.e · Nippert I.b · Sequeiros J.f · Schmidtke J.a

Author affiliations

aDepartment of Human Genetics, Hannover Medical School, Hannover, and bDepartment of Human Genetics, Universitätsklinikum Münster, Münster, Germany; cDepartment of Medical Genetics, University of Turku, Turku, and dNational Institute for Health and Welfare, Helsinki, Finland; eDepartment of Clinical Genetics, University Hospital, Lund, Sweden; fUnIGENe and CGPP, IBMC, Institute for Molecular and Cell Biology and ICBAS, University of Porto, Porto, Portugal

Related Articles for ""

Public Health Genomics 2010;13:524–537

Do you have an account?

Login Information





Contact Information











I have read the Karger Terms and Conditions and agree.



Login Information





Contact Information











I have read the Karger Terms and Conditions and agree.



To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

CHF 38.00 *
EUR 35.00 *
USD 39.00 *

Select

KAB

Buy a Karger Article Bundle (KAB) and profit from a discount!

If you would like to redeem your KAB credit, please log in.


Save over 20% compared to the individual article price.
Learn more

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00


Select

Subscribe

  • Access to all articles of the subscribed year(s) guaranteed for 5 years
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select

* The final prices may differ from the prices shown due to specifics of VAT rules.

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: July 28, 2009
Accepted: December 18, 2009
Published online: March 05, 2010
Issue release date: December 2010

Number of Print Pages: 14
Number of Figures: 0
Number of Tables: 6

ISSN: 1662-4246 (Print)
eISSN: 1662-8063 (Online)

For additional information: https://www.karger.com/PHG

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.

© 2010 S. Karger AG, Basel


References

  1. Godard B, ten Kate L, Evers-Kiebooms G, Ayme S: Population genetic screening programmes: principles, techniques, practices, and policies. Eur J Hum Genet 2003;11(suppl 2):S49–S87.
  2. Stewart A, Brice P, Burton H, Pharoah P, Sanderson S, Zimmern R: Genetics, Health Care and Public Policy: An Introduction to Public Health Genetics. New York, Cambridge University Press, 2007, pp 110–111.
  3. Wilson JMG, Junger G: Principles and practice for screening of disease. Geneva, WHO, 1968.
  4. American College of Medical Genetics: Newborn Screening ACT Sheets and Confirmatory Algorithms. www.acmg.net/resources/policies/ACT/condition-analyte-links.htm.
  5. Centers for Disease Control and Prevention: Quality Assurance and Proficiency Testing. http://www.cdc.gov/.
  6. European Research Network Quality Assurance and Proficiency Testing: www.erndim.unibas.ch.
  7. EuroGentest: www.eurogentest.org.
  8. International Society for Neonatal Screening: www.isns-neoscreening.org.
  9. ISNS General Guidelines for Neonatal Screening: www.isns-neoscreening.org.
  10. Health Council of the Netherlands: Screening: between hope and hype (No. 2008/05E). 2008, http://www.gezondheidsraad.nl/en/publications/screening-between-hope-and-hype-0.
  11. Loeber JG: Neonatal screening in Europe: the situation in 2004. J Inherit Metab Dis 2007;30:430–438.
  12. Bodamer OA, Hoffmann GF, Lindner M: Expanded newborn screening in Europe 2007. J Inherit Metab Dis 2007;30:439–444.
  13. Autti-Rämö I, Mäkelä M, Sintonen H, et al: Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland. Acta Paediatr 2005;94:1126–1136.
  14. Scheuerbrandt G, Lundin A, Lovgren T, Mortier W: Screening for Duchenne muscular dystrophy: an improved screening test for creatine kinase and its application in an infant screening program. Muscle Nerve 1986;9:11–23.
  15. Drousiotou A, Ioannou P, Georgiou T, Mavrikiou E, Christopoulos G, Kyriakides T, Voyasianos M, Argyriou A, Middleton L: Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus. Genet Test 1998;2:55–60.
  16. European Surveillance of Congenital Anomalies: http://ec.europa.eu/health/ph_threats/non_com/docs/eurocat_en.pdf.
  17. Boyd PA, DeVigan C, Khoshnood B, Loane M, Garne E, Dolk H, EUROCAT Working Group: Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rated for neural tube defects and Down’s syndrome. BJOG 2008;115:689–696.
  18. Ekelund CK, Stener Jørgensen F, Petersen OB, Sundberg K, Tabor A, Danish Fetal Medicine Research Group: Impact of a new national screening policy for Down’s syndrome in Denmark: population based cohort study. BMJ 2008;337:a2547.
  19. Wortelboer EJ, Koster MPH, Stoutenbeek P, Loeber JG, Visser GHA, Schielen PCJI: Fifteen years of triple tests in the Netherlands; the life cycle of a screening test. Prenat Diagn 2008;28:950–955.
  20. Ministère de la santé et des sports: Arrêté du 23 juin 2009 fixant les règles de bonnes pratiques en matière de dépistage et de diagnostic prénatals avec utilisation des marqueurs sériques maternels de la trisomie 21. J Off Repub Fr 2009; http://textes.droit. org/JORF/2009/07/03/0152/0023/.
  21. Ministère de la santé et des sports: Arrêté du 23 juin 2009 relatif à l’information, à la demande et au consentement de la femme enceinte à la réalisation d’une analyse portant sur les marqueurs sériques maternels et à la réalisation du prélèvement et des analyses en vue d’un diagnostic prénatal in utero prévues à l’article R. 2131-1 du code de la santé publique. J Off Repub Fr 2009; http://www.legifrance.gouv.fr/affichTexte.do?cidTexte=JORFTEXT000020814393.
  22. Government of Finland: Decree 1339/2006 on Screenings. Helsinki, 2006. www.finlex.fi/fi/laki/kaannokset/2006/20061339.
  23. Streetly A, Latinovic R, Hall K, Henthorn J: Implementation of universal newborn bloodspot screening for sickle cell disease and other clinically significant hemoglobinopathies in England. J Clin Pathol 2009;62:26–30.
  24. Burton H, Levene S, Alberg H, Stewart A: Tay Sachs Disease carrier screening in the Ashkenazi Jewish population. Cambridge, PHG Foundation, 2009. www.phgfoundation.org/pages/work2.htm#taysachs.
  25. Krawczak M, Cooper DN, Schmidtke J: Estimating the efficacy and efficiency of cascade genetic screening. Am J Hum Genet 2001;69:361–370.

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: July 28, 2009
Accepted: December 18, 2009
Published online: March 05, 2010
Issue release date: December 2010

Number of Print Pages: 14
Number of Figures: 0
Number of Tables: 6

ISSN: 1662-4246 (Print)
eISSN: 1662-8063 (Online)

For additional information: https://www.karger.com/PHG


Copyright / Drug Dosage / Disclaimer

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.