Skip to main content
PMC home page
American Journal of Public Health logoLink to American Journal of Public Health
. 1996 May;86(5):684–690. doi: 10.2105/ajph.86.5.684

Genetic screening for reproductive planning: methodological and conceptual issues in policy analysis.

D A Asch 1, J C Hershey 1, M V Pauly 1, J P Patton 1, M K Jedrziewski 1, M T Mennuti 1
PMCID: PMC1380477  PMID: 8629720

Abstract

OBJECTIVES: This paper explores several critical assumptions and methodological issues arising in cost-effectiveness analyses of genetic screening strategies in the reproductive setting. METHODS: Seven issues that arose in the development of a decision analysis of alternative strategies for cystic fibrosis carrier screening are discussed. Each of these issues required a choice in technique. RESULTS: The presentations of these analyses frequently mask underlying assumptions and methodological choices. Often there is no best choice. In the case of genetic screening in the reproductive setting, these underlying issues often touch on deeply felt human values. CONCLUSIONS: Space limitations for published papers often preclude explaining such choices in detail; yet these decisions determine the way the results should be interpreted. Those who develop these analyses need to make sure that the implications of important assumptions are understood by the clinicians who will use them. At the same time, clinicians need to enhance their understanding of what these models truly mean and how they address underlying clinical, ethical, and economic issues.

Full text

PDF
684

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Asch D. A., Patton J. P., Hershey J. C. Knowing for the sake of knowing: the value of prognostic information. Med Decis Making. 1990 Jan-Mar;10(1):47–57. doi: 10.1177/0272989X9001000108. [DOI] [PubMed] [Google Scholar]
  2. Asch D. A., Patton J. P., Hershey J. C., Mennuti M. T. Reporting the results of cystic fibrosis carrier screening. Am J Obstet Gynecol. 1993 Jan;168(1 Pt 1):1–6. doi: 10.1016/s0002-9378(12)90875-3. [DOI] [PubMed] [Google Scholar]
  3. Asch D. A., Patton J. P., Hershey J. C. Prognostic information versus accuracy: once more with meaning. Med Decis Making. 1991 Jan-Mar;11(1):45–47. doi: 10.1177/0272989X9101100108. [DOI] [PubMed] [Google Scholar]
  4. Beaudet A. L., Feldman G. L., Fernbach S. D., Buffone G. J., O'Brien W. E. Linkage disequilibrium, cystic fibrosis, and genetic counseling. Am J Hum Genet. 1989 Mar;44(3):319–326. [PMC free article] [PubMed] [Google Scholar]
  5. Botkin J. R., Alemagno S. Carrier screening for cystic fibrosis: a pilot study of the attitudes of pregnant women. Am J Public Health. 1992 May;82(5):723–725. doi: 10.2105/ajph.82.5.723. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Brock D. J., Clarke H. A., Barron L. Prenatal diagnosis of cystic fibrosis by microvillar enzyme assay on a sequence of 258 pregnancies. Hum Genet. 1988 Mar;78(3):271–275. doi: 10.1007/BF00291675. [DOI] [PubMed] [Google Scholar]
  7. Buffone G. J., Spence J. E., Fernbach S. D., Curry M. R., O'Brien W. E., Beaudet A. L. Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared. Clin Chem. 1988 May;34(5):933–937. [PubMed] [Google Scholar]
  8. Clarke A. Is non-directive genetic counselling possible? Lancet. 1991 Oct 19;338(8773):998–1001. doi: 10.1016/0140-6736(91)91849-p. [DOI] [PubMed] [Google Scholar]
  9. Eisenberg J. M., Schwartz J. S., McCaslin F. C., Kaufman R., Glick H., Kroch E. Substituting diagnostic services. New tests only partly replace older ones. JAMA. 1989 Sep 1;262(9):1196–1200. doi: 10.1001/jama.262.9.1196. [DOI] [PubMed] [Google Scholar]
  10. Evers-Kiebooms G., Denayer L., Van den Berghe H. A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis. Clin Genet. 1990 Mar;37(3):207–215. doi: 10.1111/j.1399-0004.1990.tb03504.x. [DOI] [PubMed] [Google Scholar]
  11. Garber A. M., Fenerty J. P. Costs and benefits of prenatal screening for cystic fibrosis. Med Care. 1991 May;29(5):473–489. doi: 10.1097/00005650-199105000-00007. [DOI] [PubMed] [Google Scholar]
  12. Gettig B., Venne V. Clarification needed to cystic fibrosis model. Am J Obstet Gynecol. 1993 Nov;169(5):1358–1359. doi: 10.1016/0002-9378(93)90307-5. [DOI] [PubMed] [Google Scholar]
  13. Handyside A. H., Lesko J. G., Tarín J. J., Winston R. M., Hughes M. R. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med. 1992 Sep 24;327(13):905–909. doi: 10.1056/NEJM199209243271301. [DOI] [PubMed] [Google Scholar]
  14. Hershey J. C., Cebul R. D., Williams S. V. Clinical guidelines for using two dichotomous tests. Med Decis Making. 1986 Apr-Jun;6(2):68–78. doi: 10.1177/0272989X8600600203. [DOI] [PubMed] [Google Scholar]
  15. Hershey J. C., Greene R. A., Cebul R. D., Williams S. V. Multiple test analyzer (MTA): a microcomputer program for determining preferred strategies with two diagnostic tests. Med Decis Making. 1986 Apr-Jun;6(2):79–84. doi: 10.1177/0272989X8600600204. [DOI] [PubMed] [Google Scholar]
  16. Lieu T. A., Watson S. E., Washington A. E. The cost-effectiveness of prenatal carrier screening for cystic fibrosis. Obstet Gynecol. 1994 Dec;84(6):903–912. [PubMed] [Google Scholar]
  17. Spence J. E., Buffone G. J., Rosenbloom C. L., Fernbach S. D., Curry M. R., Carpenter R. J., Ledbetter D. H., O'Brien W. E., Beaudet A. L. Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis. Hum Genet. 1987 May;76(1):5–10. doi: 10.1007/BF00283042. [DOI] [PubMed] [Google Scholar]
  18. Wertz D. C., Rosenfield J. M., Janes S. R., Erbe R. W. Attitudes toward abortion among parents of children with cystic fibrosis. Am J Public Health. 1991 Aug;81(8):992–996. doi: 10.2105/ajph.81.8.992. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Wilfond B. S., Fost N. The introduction of cystic fibrosis carrier screening into clinical practice: policy considerations. Milbank Q. 1992;70(4):629–659. [PubMed] [Google Scholar]

Articles from American Journal of Public Health are provided here courtesy of American Public Health Association

RESOURCES