Journal of Genetic Counseling

, Volume 22, Issue 1, pp 108–117 | Cite as

Design and Evaluation of a Decision Aid for Inviting Parents to Participate in a Fragile X Newborn Screening Pilot Study

  • Donald B. BaileyJr.
  • Megan A. Lewis
  • Shelly L. Harris
  • Tracey Grant
  • Carla Bann
  • Ellen Bishop
  • Myra Roche
  • Sonia Guarda
  • Leah Barnum
  • Cynthia Powell
  • Bradford L. TherrellJr.
Original Research

Abstract

The major objectives of this project were to develop and evaluate a brochure to help parents make an informed decision about participation in a fragile X newborn screening study. We used an iterative development process that drew on principles of Informed Decision Making (IDM), stakeholder input, design expertise, and expert evaluation. A simulation study with 118 women examined response to the brochure. An independent review rated the brochure high on informational content, guidance, and values. Mothers took an average of 6.5 min to read it and scored an average of 91.1 % correct on a knowledge test. Most women rated the brochure as high quality and trustworthy. When asked to make a hypothetical decision about study participation, 61.9 % would agree to screening. Structural equation modeling showed that agreement to screening and decisional confidence were associated with perceived quality and trust in the brochure. Minority and white mothers did not differ in perceptions of quality or trust. We demonstrate the application of IDM in developing a study brochure. The brochure was highly rated by experts and consumers, met high standards for IDM, and achieved stated goals in a simulation study. The IDM provides a model for consent in research disclosing complicated genetic information of uncertain value.

Keywords

Newborn screening Informed decision making Decision aids 

References

  1. American Academy of Pediatrics (AAP) Newborn Screening Taskforce. (2000). Serving the family from birth to the medical home. Newborn screening: a blueprint for the future—a call for a national agenda on state newborn screening programs. Pediatrics, 106(2 Pt 2), 389–422.Google Scholar
  2. Arnold, C. L., Davis, T. C., Frempong, J. O., Humiston, S. G., Bocchini, A., Kennen, E. M., et al. (2006). Assessment of newborn screening parent education materials. Pediatrics, 117(5 Pt 2), S320–S325. doi: 10.1542/peds.2005-2633L.PubMedGoogle Scholar
  3. Bailey, D. B., Jr., Skinner, D., & Warren, S. F. (2005). Newborn screening for developmental disabilities: reframing presumptive benefit. American Journal of Public Health, 95(11), 1889–1893. doi: 10.2105/AJPH.2004.051110.PubMedCrossRefGoogle Scholar
  4. Bailey, D. B., Jr., Skinner, D., Davis, A. M., Whitmarsh, I., & Powell, C. (2008). Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics, 121(3), e693–e704. doi: 10.1542/peds.2007-0820.PubMedCrossRefGoogle Scholar
  5. Bailey, D. B., Jr., Raspa, M., Bishop, E., & Holiday, D. (2009). No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. Pediatrics, 124(2), 527–533. doi: 10.1542/peds.2008-2992.PubMedCrossRefGoogle Scholar
  6. Bailey, D. B., Jr., Bishop, E., Raspa, M., & Skinner, D. (2012). Caregiver opinions about fragile X population screening. Genetics in Medicine, 14(1), 115–121. doi: 10.1038/gim.0b013e31822ebaa6.PubMedCrossRefGoogle Scholar
  7. Bekker, H. L., Hewison, J., & Thornton, J. G. (2003). Understanding why decision aids work: linking process with outcome. Patient Education and Counseling, 50(3), 323–329.PubMedCrossRefGoogle Scholar
  8. Bentler, P. M. (1990). Comparative fit indexes in structural models. Psychological Bulletin, 107(2), 238–246.PubMedCrossRefGoogle Scholar
  9. Briss, P., Rimer, B., Reilley, B., Coates, R. C., Lee, N. C., Mullen, P., et al. (2004). Promoting informed decisions about cancer screening in communities and healthcare systems. American Journal of Preventive Medicine, 26(1), 67–80.PubMedCrossRefGoogle Scholar
  10. Browne, M., & Cudeck, R. (1990). Alternative ways of assessing model fit. In K. Bollen & J. Long (Eds.), Testing structural equation models. Newbury Park: Sage.Google Scholar
  11. Bussey-Jones, J., Garrett, J., Henderson, G., Moloney, M., Blumenthal, C., & Corbie-Smith, G. (2010). The role of race and trust in tissue/blood donation for genetic research. Genetics in Medicine, 12(2), 116–121. doi: 10.1097/GIM.0b013e3181cd6689.PubMedCrossRefGoogle Scholar
  12. Calonge, N., Green, N. S., Rinaldo, P., Lloyd-Puryear, M., Dougherty, D., Boyle, C., et al. (2010). Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Genetics in Medicine, 12(3), 153–159. doi: 10.1097/GIM.0b013e3181d2af04.PubMedCrossRefGoogle Scholar
  13. Charles, C., Gafni, A., & Whelan, T. (1999). Decision-making in the physician-patient encounter: revisiting the shared treatment decision-making model. Social Science and Medicine, 49(5), 651–661.PubMedCrossRefGoogle Scholar
  14. Cunningham-Burley, S. (2006). Public knowledge and public trust. Community Genetics, 9(3), 204–210. doi: 10.1159/000092658.PubMedCrossRefGoogle Scholar
  15. Davis, T. C., Humiston, S. G., Arnold, C. L., Bocchini, J. A., Jr., Bass, P. F., 3rd, Kennen, E. M., et al. (2006). Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts. Pediatrics, 117(5 Pt 2), S326–S340. doi: 10.1542/peds.2005-2633M.PubMedGoogle Scholar
  16. DeLuca, J. M., Kearney, M. H., Norton, S. A., & Arnold, G. L. (2011). Parents’ experiences of expanded newborn screening evaluations. Pediatrics, 128(1), 53–61. doi: 10.1542/peds.2010-3413.PubMedCrossRefGoogle Scholar
  17. Detmar, S., Hosli, E., Dijkstra, N., Nijsingh, N., Rijnders, M., & Verweij, M. (2007). Information and informed consent for neonatal screening: opinions and preferences of parents. Birth, 34(3), 238–244. doi: 10.1111/j.1523-536X.2007.00176.x.PubMedCrossRefGoogle Scholar
  18. Diekema, D. S. (2006). Conducting ethical research in pediatrics: a brief historical overview and review of pediatric regulations. Journal of Pediatrics, 149(1 Suppl), S3–S11. doi: 10.1016/j.jpeds.2006.04.043.PubMedGoogle Scholar
  19. Elwyn, G., O’Connor, A., Stacey, D., Volk, R., Edwards, A., Coulter, A., et al. (2006). Developing a quality criteria framework for patient decision aids: online international Delphi consensus process. BMJ, 333(7565), 417. doi: 10.1136/bmj.38926.629329.AE.PubMedCrossRefGoogle Scholar
  20. Elwyn, G., Frosch, D., Volandes, A. E., Edwards, A., & Montori, V. M. (2010). Investing in deliberation: a definition and classification of decision support interventions for people facing difficult health decisions. Medical Decision Making, 30(6), 701–711. doi: 10.1177/0272989X10386231.PubMedCrossRefGoogle Scholar
  21. Faulkner, L. A., Feuchtbaum, L. B., Graham, S., Bolstad, J. P., & Cunningham, G. C. (2006). The newborn screening educational gap: what prenatal care providers do compared with what is expected. American Journal of Obstetrics and Gynecology, 194(1), 131–137. doi: 10.1016/j.ajog.2005.05.075.PubMedCrossRefGoogle Scholar
  22. Feuchtbaum, L., Cunningham, G., & Sciortino, S. (2007). Questioning the need for informed consent: a case study of California’s experience with a pilot newborn screening research project. Journal of Empirical Research on Human Research Ethics, 2(3), 3–14. doi: 10.1525/jer.2007.2.3.3.PubMedCrossRefGoogle Scholar
  23. Goldenberg, A. J., & Sharp, R. R. (2012). The ethical hazards and programmatic challenges of genomic newborn screening. Journal of the American Medical Association, 307(5), 461–462. doi: 10.1001/jama.2012.68.PubMedCrossRefGoogle Scholar
  24. Grosse, S. D., Boyle, C. A., Kenneson, A., Khoury, M. J., & Wilfond, B. S. (2006). From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics, 117(3), 923–929. doi: 10.1542/peds.2005-0553.PubMedCrossRefGoogle Scholar
  25. Haga, S. B. (2010). Analysis of educational materials and destruction/opt-out initiatives for storage and use of residual newborn screening samples. Genetic Testing and Molecular Biomarkers, 14(5), 587–592. doi: 10.1089/gtmb.2010.0010.PubMedCrossRefGoogle Scholar
  26. Hasegawa, L. E., Fergus, K. A., Ojeda, N., & Au, S. M. (2011). Parental attitudes toward ethical and social issues surrounding the expansion of newborn screening using new technologies. Public Health Genomics, 14(4–5), 298–306. doi: 10.1159/000314644.PubMedCrossRefGoogle Scholar
  27. Hu, L., & Bentler, P. M. (1999). Cutoff criteria for fit indices in covariance structure analysis: conventional criteria versus new alternatives. Structural Equation Modeling, 6, 1–55.CrossRefGoogle Scholar
  28. Kemper, A. R., Fant, K. E., & Clark, S. J. (2005). Informing parents about newborn screening. Public Health Nursing, 22(4), 332–338. doi: 10.1111/j.0737-1209.2005.220408.x.PubMedCrossRefGoogle Scholar
  29. Kim, S., Lloyd-Puryear, M. A., & Tonniges, T. F. (2003). Examination of the communication practices between state newborn screening programs and the medical home. Pediatrics, 111(2), E120–E126.PubMedCrossRefGoogle Scholar
  30. Mann, M. Y., Lloyd-Puryear, M. A., & Linzer, D. (2006). Enhancing communication in the 21st century. Pediatrics, 117(5 Pt 2), S315–S319. doi: 10.1542/peds.2005-2633K.PubMedGoogle Scholar
  31. McLaughlin, G. (1969). SMOG grading—a new readability formula. Journal of Reading, 12, 639–646.Google Scholar
  32. Mullen, P. D., Allen, J. D., Glanz, K., Fernandez, M. E., Bowen, D. J., Pruitt, S. L., et al. (2006). Measures used in studies of informed decision making about cancer screening: a systematic review. Annals of Behavioral Medicine, 32(3), 188–201. doi: 10.1207/s15324796abm3203_4.PubMedCrossRefGoogle Scholar
  33. Muthén, L., & Muthén, B. (1998–2010). Mplus user’s guide (6th ed.). Los Angeles, CA: Muthén & Muthén.Google Scholar
  34. Nwulia, E. A., Hipolito, M. M., Aamir, S., Lawson, W. B., & Nurnberger, J. I., Jr. (2011). Ethnic disparities in the perception of ethical risks from psychiatric genetic studies. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 156B(5), 569–580. doi: 10.1002/ajmg.b.31198.CrossRefGoogle Scholar
  35. O’Connor, A. M. (1995). Validation of a decisional conflict scale. Medical Decision Making, 15(1), 25–30.PubMedCrossRefGoogle Scholar
  36. O’Connor, A. M., Bennett, C. L., Stacey, D., Barry, M., Col, N. F., Eden, K. B., et al. (2009). Decision aids for people facing health treatment or screening decisions. Cochrane Database of Systematic Reviews, (3), CD001431, doi: 10.1002/14651858.CD001431.pub2.
  37. Skinner, D., Choudhury, S., Sideris, J., Guarda, S., Buansi, A., Roche, M., et al. (2011). Parents’ decisions to screen newborns for FMR1 gene expansions in a pilot research project. Pediatrics, 127(6), e1455–e1463. doi: 10.1542/peds.2010-3078.PubMedCrossRefGoogle Scholar
  38. Sorenson, J. R., Lakon, C., Spinney, T., & Jennings-Grant, T. (2004). Assessment of a decision aid to assist genetic testing research participants in the informed consent process. Genetic Testing, 8(3), 336–346.PubMedCrossRefGoogle Scholar
  39. Tarini, B. A., Burke, W., Scott, C. R., & Wilfond, B. S. (2008). Waiving informed consent in newborn screening research: balancing social value and respect. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 148C(1), 23–30. doi: 10.1002/ajmg.c.30164.PubMedCrossRefGoogle Scholar
  40. Tassone, F., Pan, R., Amiri, K., Taylor, A. K., & Hagerman, P. J. (2008). A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. Journal of Molecular Diagnostics, 10(1), 43–49. doi: 10.2353/jmoldx.2008.070073.PubMedCrossRefGoogle Scholar
  41. Tluczek, A., Orland, K. M., Nick, S. W., & Brown, R. L. (2009). Newborn screening: an appeal for improved parent education. Journal of Perinatal and Neonatal Nursing, 23(4), 326–334. doi: 10.1097/JPN.0b013e3181a1bc1f.PubMedGoogle Scholar
  42. Volk, R. J., Hawley, S. T., Kneuper, S., Holden, E. W., Stroud, L. A., Cooper, C. P., et al. (2007). Trials of decision aids for prostate cancer screening: a systematic review. American Journal of Preventive Medicine, 33(5), 428–434. doi: 10.1016/j.amepre.2007.07.030.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • Donald B. BaileyJr.
    • 1
  • Megan A. Lewis
    • 1
  • Shelly L. Harris
    • 1
  • Tracey Grant
    • 1
  • Carla Bann
    • 1
  • Ellen Bishop
    • 1
  • Myra Roche
    • 2
  • Sonia Guarda
    • 2
  • Leah Barnum
    • 2
  • Cynthia Powell
    • 2
  • Bradford L. TherrellJr.
    • 3
  1. 1.RTI InternationalResearch Triangle ParkUSA
  2. 2.University of North Carolina at Chapel HillChapel HillUSA
  3. 3.University of Texas Health Science Center at San AntonioSan AntonioUSA

Personalised recommendations