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

  • Original Research
  • Published:
Journal of Genetic Counseling

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.

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References

  • 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 

  • 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:https://doi.org/10.1542/peds.2005-2633L.

    Article  Google Scholar 

  • 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:https://doi.org/10.2105/AJPH.2004.051110.

    Article  Google Scholar 

  • 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:https://doi.org/10.1542/peds.2007-0820.

    Article  Google Scholar 

  • 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:https://doi.org/10.1542/peds.2008-2992.

    Article  Google Scholar 

  • 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:https://doi.org/10.1038/gim.0b013e31822ebaa6.

    Article  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Bentler, P. M. (1990). Comparative fit indexes in structural models. Psychological Bulletin, 107(2), 238–246.

    Article  CAS  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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 

  • 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:https://doi.org/10.1097/GIM.0b013e3181cd6689.

    Article  Google Scholar 

  • 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:https://doi.org/10.1097/GIM.0b013e3181d2af04.

    Article  Google Scholar 

  • 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.

    Article  CAS  Google Scholar 

  • Cunningham-Burley, S. (2006). Public knowledge and public trust. Community Genetics, 9(3), 204–210. doi:https://doi.org/10.1159/000092658.

    PubMed  Google Scholar 

  • 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:https://doi.org/10.1542/peds.2005-2633M.

    Article  Google Scholar 

  • 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:https://doi.org/10.1542/peds.2010-3413.

    Article  Google Scholar 

  • 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:https://doi.org/10.1111/j.1523-536X.2007.00176.x.

    Article  Google Scholar 

  • 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:https://doi.org/10.1016/j.jpeds.2006.04.043.

    Article  Google Scholar 

  • 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:https://doi.org/10.1136/bmj.38926.629329.AE.

    Article  Google Scholar 

  • 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:https://doi.org/10.1177/0272989X10386231.

    Article  Google Scholar 

  • 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:https://doi.org/10.1016/j.ajog.2005.05.075.

    Article  Google Scholar 

  • 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:https://doi.org/10.1525/jer.2007.2.3.3.

    Article  Google Scholar 

  • 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:https://doi.org/10.1001/jama.2012.68.

    Article  Google Scholar 

  • 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:https://doi.org/10.1542/peds.2005-0553.

    Article  Google Scholar 

  • 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:https://doi.org/10.1089/gtmb.2010.0010.

    Article  Google Scholar 

  • 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:https://doi.org/10.1159/000314644.

    Article  CAS  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Kemper, A. R., Fant, K. E., & Clark, S. J. (2005). Informing parents about newborn screening. Public Health Nursing, 22(4), 332–338. doi:https://doi.org/10.1111/j.0737-1209.2005.220408.x.

    Article  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Mann, M. Y., Lloyd-Puryear, M. A., & Linzer, D. (2006). Enhancing communication in the 21st century. Pediatrics, 117(5 Pt 2), S315–S319. doi:https://doi.org/10.1542/peds.2005-2633K.

    Article  Google Scholar 

  • McLaughlin, G. (1969). SMOG grading—a new readability formula. Journal of Reading, 12, 639–646.

    Google Scholar 

  • 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:https://doi.org/10.1207/s15324796abm3203_4.

    Article  Google Scholar 

  • Muthén, L., & Muthén, B. (1998–2010). Mplus user’s guide (6th ed.). Los Angeles, CA: Muthén & Muthén.

  • 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:https://doi.org/10.1002/ajmg.b.31198.

    Article  CAS  Google Scholar 

  • O’Connor, A. M. (1995). Validation of a decisional conflict scale. Medical Decision Making, 15(1), 25–30.

    Article  Google Scholar 

  • 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:https://doi.org/10.1002/14651858.CD001431.pub2.

  • 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:https://doi.org/10.1542/peds.2010-3078.

    Article  Google Scholar 

  • 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.

    Article  CAS  Google Scholar 

  • 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:https://doi.org/10.1002/ajmg.c.30164.

    Article  Google Scholar 

  • 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:https://doi.org/10.2353/jmoldx.2008.070073.

    Article  CAS  Google Scholar 

  • 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:https://doi.org/10.1097/JPN.0b013e3181a1bc1f.

    Article  Google Scholar 

  • 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:https://doi.org/10.1016/j.amepre.2007.07.030.

    Article  Google Scholar 

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Authors and Affiliations

  1. RTI International, Research Triangle Park, 3040 Cornwallis Road, NC, 27709, USA

    Donald B. Bailey Jr., Megan A. Lewis, Shelly L. Harris, Tracey Grant, Carla Bann & Ellen Bishop

  2. University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA

    Myra Roche, Sonia Guarda, Leah Barnum & Cynthia Powell

  3. University of Texas Health Science Center at San Antonio, San Antonio, TX, 78229, USA

    Bradford L. Therrell Jr.

Authors
  1. Donald B. Bailey Jr.
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  2. Megan A. Lewis
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  3. Shelly L. Harris
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  4. Tracey Grant
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  5. Carla Bann
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  6. Ellen Bishop
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  7. Myra Roche
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  8. Sonia Guarda
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  9. Leah Barnum
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  10. Cynthia Powell
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  11. Bradford L. Therrell Jr.
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Corresponding author

Correspondence to Donald B. Bailey Jr..

Additional information

Primary support for this study was provided by the National Newborn Screening and Genetics Resource Center, through a cooperative agreement between the Maternal and Child Health Bureau, Genetic Services Branch and the University of Texas Health Science Center at San Antonio, Department of Pediatrics, HRSA Grant # U32-MC00148. Partial support was also provided by the Eunice Kennedy Shriver National Institute for Child Health and Human Development (P30 HD003110-S1), the Ethical, Legal, and Social Implications Research Program/National Human Genome Research Institute (5P50HG004488), and the Centers for Disease Control in conjunction with the Association for Prevention Teaching and Research (APTR) (Cooperative Agreement No. U50/CCU300860, Project TS-1470). The authors express their appreciation to Debra Skinner for her comments on the manuscript and assistance with coding, and to colleagues at the University of California-Davis and Rush University Medical Center for suggestions on the brochure.

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Bailey, D.B., Lewis, M.A., Harris, S.L. et al. Design and Evaluation of a Decision Aid for Inviting Parents to Participate in a Fragile X Newborn Screening Pilot Study. J Genet Counsel 22, 108–117 (2013). https://doi.org/10.1007/s10897-012-9511-0

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  • DOI: https://doi.org/10.1007/s10897-012-9511-0

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