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Table of Contents
Vol. 13, No. 2, 2010
Issue release date: December 2009
Section title: Review
Public Health Genomics 2010;13:106–115
(DOI:10.1159/000226594)

Population Screening for Genetic Disorders in the 21st Century: Evidence, Economics, and Ethics

Grosse S.D. · Rogowski W.H. · Ross L.F. · Cornel M.C. · Dondorp W.J. · Khoury M.J.
aNational Center on Birth Defects and Developmental Disabilities and bNational Office of Public Health Genomics, Centers for Disease Control and Prevention, U.S. Department of Health and Human Services, Atlanta, Ga., USA; cHelmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Institute of Health Economics and Health Care Management, Neuherberg, Germany; dDepartment of Pediatrics and the MacLean Center for Clinical Medical Ethics at the University of Chicago, Chicago, Ill., USA; eCommunity Genetics Section, Department of Clinical Genetics/EMGO Institute, VU University Medical Center (VUMC), Amsterdam, fDepartment of Health, Ethics & Society, Faculty of Health, Medicine & Life Sciences, Maastricht University, Maastricht, The Netherlands

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Article / Publication Details

First-Page Preview
Abstract of Review

Received: 1/8/2009
Accepted: 4/14/2009
Published online: 6/29/2009

Number of Print Pages: 10
Number of Figures: 0
Number of Tables: 1

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

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

Abstract

Background: Proposals for population screening for genetic diseases require careful scrutiny by decision makers because of the potential for harms and the need to demonstrate benefits commensurate with the opportunity cost of resources expended. Methods: We review current evidence-based processes used in the United States, the United Kingdom, and the Netherlands to assess genetic screening programs, including newborn screening programs, carrier screening, and organized cascade testing of relatives of patients with genetic syndromes. In particular, we address critical evidentiary, economic, and ethical issues that arise in the appraisal of screening tests offered to the population. Specific case studies include newborn screening for congenital adrenal hyperplasia and cystic fibrosis and adult screening for hereditary hemochromatosis. Results: Organizations and countries often reach different conclusions about the suitability of screening tests for implementation on a population basis. Deciding when and how to introduce pilot screening programs is challenging. In certain cases, e.g., hereditary hemochromatosis, a consensus does not support general screening although cascade screening may be cost-effective. Conclusion: Genetic screening policies have often been determined by technological capability, advocacy, and medical opinion rather than through a rigorous evidence-based review process. Decision making should take into account principles of ethics and opportunity costs.


Article / Publication Details

First-Page Preview
Abstract of Review

Received: 1/8/2009
Accepted: 4/14/2009
Published online: 6/29/2009

Number of Print Pages: 10
Number of Figures: 0
Number of Tables: 1

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

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


Copyright / Drug Dosage

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 or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
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 goverment 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.

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