Hostname: page-component-745bb68f8f-hvd4g Total loading time: 0 Render date: 2025-01-09T00:45:15.978Z Has data issue: false hasContentIssue false
  • English
  • Français

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
Get access Rights & Permissions [Opens in a new window]

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Adams PC, Valberg LS. 1999 Screening blood donors for hereditary hemochromatosis: Decision analysis model comparing genotyping to phenotyping. Am J Gastroenterol. 94: 1593– 1600.Google Scholar
Balmana J, Sanz J, Bonfill X, et al. 2004 Genetic counseling program in familial breast cancer: Analysis of its effectiveness, cost and cost-effectiveness ratio. Int J Cancer. 112: 647.Google Scholar
Bapat B, Noorani H, Cohen Z, et al. 1999 Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis. Gut. 44: 698– 703.Google Scholar
Bassett ML, Leggett BA, Halliday JW, Webb S, Powell LW. 1997 Analysis of the cost of population screening for haemochromatosis using biochemical and genetic markers. J Hepatol. 27: 517– 524.Google Scholar
Briggs AH. 2004 Statistical approaches to handling uncertainty in health economic evaluation. Eur J Gastroenterol Hepatol. 16: 551– 561.Google Scholar
Butler JR. 2002 Economic evaluations of screening programs: A review of methods and results. Clin Chim Acta. 315: 31– 40.Google Scholar
Chikhaoui Y, Gelinas H, Joseph L, Lance JM. 2002 Cost-minimization analysis of genetic testing versus clinical screening of at-risk relatives for familial adenomatous polyposis. Int J Technol Assess Health Care. 18: 67– 80.Google Scholar
Chiou CF, Hay JW, Wallace JF, et al. 2003 Development and validation of a grading system for the quality of cost-effectiveness studies. Med Care. 41: 32– 44.Google Scholar
Clague A, Thomas A. 2002 Neonatal biochemical screening for disease. Clin Chim Acta. 315: 99– 110.Google Scholar
Cromwell DM, Moore RD, Brensinger JD, et al. 1998 Cost analysis of alternative approaches to colorectal screening in familial adenomatous polyposis. Gastroenterology. 114: 893– 901.Google Scholar
Dickersin K, Scherer R, Lefebvre C. 1994 Identifying relevant studies for systematic reviews. BMJ. 309: 1286– 1291.Google Scholar
Drummond MF, Jefferson TO. 1996 Guidelines for authors and peer reviewers of economic submissions to the BMJ. The BMJ Economic Evaluation Working Party. BMJ. 313: 275– 283.Google Scholar
Eichler HG, Kong SX, Gerth WC, Mavros P, Jonsson B. 2004 Use of cost-effectiveness analysis in health-care resource allocation decision-making: How are cost-effectiveness thresholds expected to emerge? Value Health. 7: 518– 528.Google Scholar
El-Serag HB, Inadomi JM, Kowdley KV. 2000 Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis. Ann Intern Med. 132: 261– 269.Google Scholar
Grann VR, Whang W, Jacobson JS, et al. 1999 Benefits and costs of screening Ashkenazi Jewish women for BRCA1 and BRCA2. J Clin Oncol. 17: 494– 500.Google Scholar
Hahl J, Simell T, Ilonen J, Knip M, Simell O. 1998 Costs of predicting IDDM. Diabetologia. 41: 79– 85.Google Scholar
Hamosh A, Scott AF, Amberger J, et al. 2002 Online Mendelian Inheritance in Man (OMIM), a knowledge base of human genes and genetic disorders. Nucleic Acids Res. 30: 52– 55.Google Scholar
Harrison TR, Fauci AS. 1998. Harrison's principles of internal medicine. New York: McGraw-Hill Health Professions Division;
Hennen L, Petermann T, Sauter A. 2001. *Das* genetische Orakel Prognosen und Diagnosen durch Gentests–eine aktuelle Bilanz Leonhard Hennen Thomas Petermann Arnold Sauter. Berlin: Sigma;
Jefferson T, Demicheli V. 2002 Quality of economic evaluations in health care. BMJ. 324: 313– 314.Google Scholar
Khoury MJ, McCabe LL, McCabe ER. 2003 Population screening in the age of genomic medicine. N Engl J Med. 348: 50– 58.Google Scholar
Kievit W, de Bruin JH, Adang EM, et al. 2005 Cost effectiveness of a new strategy to identify HNPCC patients. Gut. 54: 97– 102.Google Scholar
Klassen TP, Jadad AR, Moher D. 1998 Guides for reading and interpreting systematic reviews: I. Getting started. Arch Pediatr Adolesc Med. 152: 700– 704.Google Scholar
Lee DS, Rosenberg MA, Peterson A, et al. 2003 Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program. J Pediatr. 142: 617– 623.Google Scholar
Marang-van de Mheen PJ, ten Asbroek AH, Bonneux L, Bonsel GJ, Klazinga NS. 2002 Cost-effectiveness of a family and DNA based screening programme on familial hypercholesterolaemia in The Netherlands. Eur Heart J. 23: 1922– 1930.Google Scholar
Marks D, Wonderling D, Thorogood M, et al. 2000 Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: A systematic review and cost-effectiveness analysis. Health Technol Assess. 4: 1– 123.Google Scholar
Marks D, Wonderling D, Thorogood M, et al. 2002 Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ. 324: 1303.Google Scholar
McKusick VA. 2000. LocusLink, online mendelian inheritance in man, OMIM (TM). Bethesda, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine; Available at: http://www.ncbi.nlm.nih.gov/LocusLink/. LocusLink search for “disease_known AND has_seq”. Accessed 13 September 2004.
Murray J, Cuckle H, Taylor G, Littlewood J, Hewison J. 1999 Screening for cystic fibrosis. Health Technol Assess. 3: i– iv,1-104.Google Scholar
National Institute for Clinical Excellence. Guide to the methods of technology appraisal. 2004 National Institute for Clinical Excellence; Available at: http://www.nice.org.uk/pdf/TAP_Methods.pd. Accessed 17 May 2004.
National Library of Medicine. 2005. PubMed. Bethesda, MD: National Library of Medicine; Available at: http://www.ncbi.nlm.nih.gov/entrez. Accessed 4 February 2005.
National Screening Committee UK. Glossary for UK national screening programmes [online]. Available at: http://www.nsc.nhs.uk/glossary/glossary_ind.htm. Accessed 29 March 2005.
National Screening Committee UK. 1998. First report of the National Screening Committee. Leeds: Health departments in the United Kingdom; Available at: http://www.nsc.nhs.uk/pdfs/nsc_firstreport.pdf. Accessed 7 June 1998.
Noorani HZ, Khan HN, Gallie BL, Detsky AS. 1996 Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet. 59: 301– 307.Google Scholar
Pagon R. 2004. About genetic services. Seattle: University of Washington; Available at: www.genetests.org. Accessed 4 February 2004.
Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S. 2004 Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review. Health Technol Assess. 8: iii,1– 121.Google Scholar
Phillips KA, Bebber SLV. 2004 A systematic review of cost-effectiveness analysis of pharmacogenomic interventions. Pharmacogenomics. 5: 1139– 1149.Google Scholar
Ramsey SD, Burke W, Clarke L. 2003 An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer. Genet Med. 5: 353– 363.Google Scholar
Ramsey SD, Clarke L, Etzioni R, et al. 2001 Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer. Ann Intern Med. 135: 577– 588.Google Scholar
Reyes CM, Allen BA, Terdiman JP, Wilson LS. 2002 Comparison of selection strategies for genetic testing of patients with hereditary nonpolyposis colorectal carcinoma: Effectiveness and cost-effectiveness. Cancer. 95: 1848– 1856.Google Scholar
Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. 1997 A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 89: 1758– 1762.Google Scholar
Sassi F, Archard L, McDaid D. 2002 Searching literature databases for health care economic evaluations: How systematic can we afford to be? Med Care. 40: 387– 394.Google Scholar
Schmidtke J. 2003 Humangenetik: Sind Gesundheit und Krankheit angeboren? In: Schwartz FW, Badura B, Busse B, et al., eds. Das Public-Health-Buch Gesundheit und Gesundheitswesen. München: Urban & Fischer.
Schöffski O, Schmidtke J, Stuhrmann M. 2000 Cost-effectiveness of population-based genetic hemochromatosis screening. Community Genet. 3: 2– 11.Google Scholar
Siebert U, Mühlberger N, Behrend C, Wasem J. 1999. PSA-Screening beim Prostatakarzinom. Hannover: DIMDI—Deutsches Institut für Medizinische Dokumentation und Information; Available at: http://www.uni-essen.de/medizin-management/Lehrstuhl/Download/PSA-Screening.pdf. Accessed 19 July 1999.
Stearns SC, Drummond M. 2003 Grading systems for cost-effectiveness studies: Is the whole greater than the sum of the parts? Med Care. 41: 1– 3.Google Scholar
Stuhrmann M, Strassburg C, Schmidtke J. 2005 Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study. Eur J Hum Genet. 13: 69– 78.Google Scholar
Tengs TO, Berry DA. 2000 The cost effectiveness of testing for the BRCA1 and BRCA2 breast-ovarian cancer susceptibility genes. Dis Manag Clin Outcomes. 1: 15– 24.Google Scholar
Wonderling D, Umans-Eckenhausen MA, Marks D, et al. 2004 Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med. 4: 97– 104.Google Scholar
Yoon PW, Chen B, Faucett A, et al. 2001 Public health impact of genetic tests at the end of the 20th century. Genet Med. 3: 405– 410.Google Scholar
Zimmern R, Cook C. 2000. Genetics and health: Policy issues for genetic science and their implications for health and health services. London: The Stationery Office;