American Journal of Obstetrics & Gynecology
Volume 202, Issue 3 , Pages 209-211 , March 2010

What is the value for money of prenatal carrier screening for spinal muscular atrophy? Too soon to say

References 

  1. Little SE, Janakiraman V, Kaiman A, Musci T, Ecker J, Caughey AB. The cost effectiveness of prenatal screening for spinal muscular atrophy. Am J Obstet Gynecol. 2010;202:253.e1–253.e7
  2. GeneTests. Laboratory directory 2009. http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab?db=genetestsAccessed Jan. 6, 2010.
  3. Rogowski WH, Grosse SD, Khoury MJ. Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet. 2009;10:489–495
  4. Musci TJ, Caughey AB. Cost-effectiveness analysis of prenatal population-based fragile X carrier screening. Am J Obstet Gynecol. 2005;192:1905–1912
  5. Caughey AB, Kuppermann M, Norton ME, Washington AE. Nuchal translucency and first trimester biochemical markers for down syndrome screening: a cost-effectiveness analysis. Am J Obstet Gynecol. 2002;187:1239–1245
  6. Caughey AB. Cost-effectiveness analysis of prenatal diagnosis: methodological issues and concerns. Gynecol Obstet Invest. 2005;60:11–18
  7. Gold MR, Stevenson D, Fryback DG. HALYs and QALYs and DALYs, oh my: similarities and differences in summary measures of population health. Annu Rev Public Health. 2002;23:115–134
  8. Tilford JM, Grosse SD, Robbins JM, Pyne JM, Cleves MA, Hobbs CA. Health state preference scores of children with spina bifida and their caregivers. Qual Life Res. 2005;14:1087–1098
  9. Grosse SD, Wordsworth S, Payne K. Economic methods for valuing the outcomes of genetic testing: beyond cost-effectiveness analysis. Genet Med. 2008;10:648–655
  10. Grosse SD, McBride CM, Evans JP, Khoury MJ. Personal utility and genomic information: look before you leap. Genet Med. 2009;11:575–576
  11. Shackley P, Cairns J. Evaluating the benefits of antenatal screening: an alternative approach. Health Policy. 1996;36:103–115
  12. Harris RA, Washington AE, Nease RF, Kuppermann M. Cost utility of prenatal diagnosis and the risk-based threshold. Lancet. 2004;363:276–282
  13. Cairns J, Shackley P, Hundley V. Decision making with respect to diagnostic testing: a method of valuing the benefits of antenatal screening. Med Decis Making. 1996;16:161–168
  14. Ganiats TG. Justifying prenatal screening and genetic amniocentesis programs by cost-effectiveness analyses: a re-evaluation. Med Decis Making. 1996;16:45–50
  15. Petrou S. Methodological limitations of economic evaluations of antenatal screening. Health Econ. 2001;10:775–778
  16. Grosse SD. Does newborn screening save money? (The difference between cost-effective and cost-saving interventions). J Pediatra. 2005;146:168–170
  17. Asch DA, Hershey JC, Pauly MV, Patton JP, Jedrziewski MK, Mennuti MT. Genetic screening for reproductive planning: methodological and conceptual issues in policy analysis. Am J Public Health. 1996;86:684–690
  18. Carlson JJ, Henrikson NB, Veenstra DL, Ramsey SD. Economic analyses of human genetics services: a systematic review. Genet Med. 2005;7:519–523
  19. Grosse SD. Cost-comparison analysis. In:  Kattan MW editors. Encyclopedia of medical decision making. Thousand Oaks, CA: SAGE; 2009;p. 207–208
  20. Plass AM, van El CG, Pieters T, Cornel MC. Neonatal screening for treatable and untreatable disorders: prospective parents' opinions. Pediatrics. 2010;125:e99–e106
  21. Donaldson C, Shackley P, Abdalla M. Using willingness to pay to value close substitutes: carrier screening for cystic fibrosis revisited. Health Econ. 1997;6:145–159
  22. Caughey AB, Washington AE, Gildengorin V, Kuppermann M. Assessment of demand for prenatal diagnostic testing using willingness to pay. Obstet Gynecol. 2004;103:539–545
  23. Bishop AJ, Marteau TM, Armstrong D, et al. Women and health care professionals' preferences for Down's syndrome screening tests: a conjoint analysis study. BJOG. 2004;111:775–779
  24. Ryan M, Diack J, Watson V, Smith N. Rapid prenatal diagnostic testing for Down syndrome only or longer wait for full karyotype: the views of pregnant women. Prenat Diagn. 2005;25:1206–1211
  25. Whitehead NS, Brown DS, Layton CM. Developing a conjoint analysis survey of parental attitudes regarding voluntary newborn screening. Publication no. MR-0014-1002. Research Triangle Park, NC: RTI International; 2010;In press
  26. National Human Genome Research Institute. Summary of population-based carrier screening for single-gene disorders: lessons learned and new opportunities. Rockville, MD. February 6-7, 2008. http://www.genome.gov/27026048Accessed Dec. 22, 2009
  27. Grosse SD, Rogowski WH, Ross LF, Cornel MC, Dondorp WJ, Khoury MJ. Population screening strategies for genetic disorders: evidence, ethics, and economics. Public Health Genom. 2010;13:106–115
  28. Teutsch SM, Bradley LA, Palomaki GE, et al. The evaluation of genomic applications in practice and prevention (EGAPP) initiative: methods of the EGAPP working group. Genet Med. 2009;11:3–14
  29. Green NS, Rinaldo P, Brower A, et al. Committee report: advancing the current recommended panel of conditions for newborn screening. Genet Med. 2007;9:792–796
  30. Grosse SD. Cost effectiveness as a criterion for newborn screening policy decisions. In:  Baily MA,  Murray TH editor. Ethics and newborn genetic screening: new technologies, new challenges. Baltimore, MD: Johns Hopkins University Press; 2009;p. 58–88
  31. Grosse SD, Teutsch SM, Haddix AC. Lessons from cost-effectiveness research for United States public health policy. Annu Rev Pub Health. 2007;28:365–391

 Reprints not available from the authors.

 The findings and conclusions in this report are those of the author and do not necessarily represent the official position of the Centers for Disease Control and Prevention.

PII: S0002-9378(10)00061-X

doi: 10.1016/j.ajog.2010.01.031

American Journal of Obstetrics & Gynecology
Volume 202, Issue 3 , Pages 209-211 , March 2010