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Genetic screening by DNA technology: A systematic review of health economic evidence

Published online by Cambridge University Press:  09 August 2006

Wolf Rogowski
Wolf Rogowski
Affiliation:
GSF–National Research Center for Environment and Health
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Abstract

Objectives: The Human Genome Project has led to a multitude of new potential screening targets on the level of human DNA. The aim of this systematic review is to critically summarize the evidence from health economic evaluations of genetic screening in the literature.

Methods: Based on an extensive explorative search, an appropriate algorithm for a systematic database search was developed. Twenty-one health economic evaluations were identified and appraised using published quality criteria.

Results: Genetic screening for eight conditions has been found to be investigated by health economic evaluation: hereditary breast and ovarian cancer, familial adenomatous polyposis (FAP) colorectal cancer, hereditary nonpolyposis colorectal carcinoma (HNPCC), retinoblastoma, familial hypercholesterolemia, hereditary hemochromatosis, insulin-dependent diabetes mellitus, and cystic fibrosis. Results range from dominated to cost-saving. Population-wide genetic screening may be considered cost-effective with limited quality of evidence only for three conditions. The methodology of the studies was of varying quality. Cost-effectiveness was primarily influenced by mutation prevalence, genetic test costs, mortality risk, effectiveness of treatment, age at screening, and discount rate.

Conclusions: Health economic evidence on genetic screening is limited: Only few conditions have properly been evaluated. Based on the existing evidence, healthcare decision makers should consider the introduction of selective genetic screening for FAP and HNPCC. As genetic test costs are declining, the existing evaluations may warrant updating. Especially in the case of hereditary hemochromatosis, genetic population screening may be about to turn from a dominated to a cost-effective or even cost-saving intervention.

Keywords

Costs and cost analysisGenetic screeningGenetic predisposition to diseaseNucleic acid amplification techniquesReview
Type
GENERAL ESSAYS
Information
International Journal of Technology Assessment in Health Care , Volume 22 , Issue 3 , July 2006 , pp. 327 - 337
Copyright
© 2006 Cambridge University Press

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