Journal of Genetic Counseling

, Volume 20, Issue 2, pp 115–128 | Cite as

A Tailored Approach to Family-Centered Genetic Counseling for Cystic Fibrosis Newborn Screening: The Wisconsin Model

  • Audrey Tluczek
  • Christina Zaleski
  • Dania Stachiw-Hietpas
  • Peggy Modaff
  • Craig R. Adamski
  • Megan R. Nelson
  • Catherine A. Reiser
  • Sumedha Ghate
  • Kevin D. Josephson
Theory Based Paper


This article describes the development of a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). A genetic counseling consortium reviewed research literature, selected theoretical frameworks, and incorporated counseling psychology micro skills. This innovative intervention integrated theories and empirically validated techniques. Pilot testing and parent feedback confirmed satisfaction with and feasibility of the approach designed to (a) minimize parents’ distress, (b) facilitate parents’ understanding, (c) increase parents’ capacities to use genetic information, and (d) enhance parents’ experiences with genetic counseling. Counselors engage in a highly interactive process of evaluating parents’ needs and tailoring assessments and interventions that include a therapeutic environment, the family’s emotional needs, parents’ informational needs, and a follow-up plan. This promising new model is the first to establish a theory-driven, evidence-based standard for genetic counseling in the context of NBS for CF. Additional research will evaluate the model’s efficacy in clinical practice.


Cystic fibrosis CF carrier Genetic counseling Newborn screening Micro skill Tailored intervention 


  1. Almond, P. (2009). Postnatal depression: a global public health perspective. Perspectives in Public Health, 129, 221–227.PubMedCrossRefGoogle Scholar
  2. American Psychiatric Association (US) (2000). Diagnostic and statistical manual for mental disorders (4th ed. text revision; DSM-IV-TR). Washington, DC: American Psychiatric Association.Google Scholar
  3. Aragon, S. J., McGuinn, L., Bavin, S. A., & Gesell, S. B. (2010). Does pediatric patient-centeredness affect family trust? Journal for Healthcare Quality: Promoting Excellence in Healthcare, 32(3), 23–31.Google Scholar
  4. Archibald, A. D., Jaques, A. M., Wake, S., Collins, V. R., Cohen, J., & Metcalfe, S. A. (2009). “It’s something I need to consider”: decisions about carrier screening for fragile X syndrome in a population of non-pregnant women. American Journal Medical Genetics. Part A, 149A, 2731–2738.CrossRefGoogle Scholar
  5. Blagrove, M., Alexander, C. A., & Horne, J. A. (1995). The effects of chronic sleep reduction on the performance of cognitive tasks sensitive to sleep deprivation. Applied Cognitive Psychology, 9, 21–40.CrossRefGoogle Scholar
  6. Borowitz, D., Parad, R. B., Sharp, J. K., Sabadosa, K. A., Robinson, K. A., Rock, M. J., et al. (2009). Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. Journal of Pediatrics, 155(Suppl. 4), S106–S1016.PubMedGoogle Scholar
  7. Cavanagh, L., Compton, C. J., Tluczek, A., Brown, R. L., & Farrell, P. M. (2010). Long-term evaluation of genetic counseling following false-positive newborn screen for cystic fibrosis. Journal of Genetic Counseling, 19, 199–210. Epub 2010 Feb 4.PubMedCrossRefGoogle Scholar
  8. Ciske, D. J., Haavisto, A., Laxova, A., Zeng, L., Rock, M., & Farrell, P. M. (2001). Genetic counseling and neonatal screening for cystic fibrosis: an assessment of the communication process. Pediatrics, 107, 699–705.PubMedCrossRefGoogle Scholar
  9. Cystic Fibrosis Foundation (2009). About cystic fibrosis: Frequently asked questions. Retrieved July 22, 2010 from
  10. Cystic Fibrosis Mutation Database (2010). Retrieved July 22, 2010, from
  11. Dillard, J. P., Shen, L., Tluczek, A., Modaff, P., & Farrell, P. (2007). The effect of disruptions during counseling on recall of genetic risk information: the case of cystic fibrosis. Journal of Genetic Counseling, 16, 179–190.PubMedCrossRefGoogle Scholar
  12. Dillard, J. P., Shen, L., Laxova, A., & Farrell, P. (2008). Potential threats to the effective communication of genetic risk information: the case of cystic fibrosis. Health Communication, 23, 234–244.PubMedCrossRefGoogle Scholar
  13. Dinges, D. F., Pack, F., Williams, K., Gillen, K. A., Powell, J. W., Ott, G. E., et al. (1997). Cumulative sleepiness, mood disturbance and psychomotor vigilance performance decrements during a week of sleep restricted to 4–5 hours per night. Sleep, 20, 267–277.PubMedGoogle Scholar
  14. Doran, S. M., Van Dongen, H. P., & Dinges, D. F. (2001). Sustained attention performance during sleep deprivation: evidence of state instability. Archives Italiennes de Biologie, 139, 253–267.PubMedGoogle Scholar
  15. Eunpu, D. L. (1997). Systematically-based psychotherapeutic techniques in genetic counseling. Journal of Genetics Counseling, 6, 1–20.CrossRefGoogle Scholar
  16. Eunpu, D. L. (2010). Genetic counseling strategies for working with families. In B. S. LeRoy, P. McCarthy Veach, & D. M. Bartels (Eds.), Genetic counseling practice: Advanced concepts and skills (pp. 235–251). Hoboken: Wiley-Blackwell.Google Scholar
  17. Evans, C. (2006). Genetic counseling: A psychological approach. Cambridge: Cambridge University Press.CrossRefGoogle Scholar
  18. Farrell, M., Deuster, L., Donovan, J., & Christopher, S. (2008). Pediatric residents’ use of jargon during counseling about newborn genetic screening results. Pediatrics, 122, 243–249.CrossRefGoogle Scholar
  19. Farrell, M. H., La Pean, A., & Ladouceur, L. (2005). Content of communication by pediatric residents after newborn genetic screening. Pediatrics, 116, 1492–1498.PubMedCrossRefGoogle Scholar
  20. Farrell, P. M., Kosorok, M. R., Laxova, A., Shen, G., Koscik, R., Bruns, T., et al. (1997). Wisconsin cystic fibrosis neonatal screening study group. Nutritional benefits of neonatal screening for cystic fibrosis. New England Journal of Medicine, 337, 963–969.PubMedCrossRefGoogle Scholar
  21. Farrell, P. M., Mischler, E. H., Fost, N. C., Wilfond, B. S., Tluczek, A., Gregg, R. G., et al. (1991). Current issues in neonatal screening for cystic fibrosis and implications of the CF gene discovery. Pediatric Pulmonology, 57, 11–18.CrossRefGoogle Scholar
  22. Farrell, P. M., Rosenstein, B. J., White, T. B., Accurso, F. J., Castellani, C., Cutting, G. R., et al. (2008). Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. Journal of Pediatrics, 153(2), S4–S14.CrossRefGoogle Scholar
  23. Gregg, R. G., Wilfond, B. S., Farrell, P. M., Laxova, A., Hassemer, D., & Mischler, E. H. (1993). The application of DNA analysis in a population screening program for neonatal diagnosis of cystic fibrosis: comparison of screening protocols. American Journal of Human Genetics, 52, 616–626.PubMedGoogle Scholar
  24. Gross, J. J. (1999). Emotion and emotion regulation. In L. A. Pervin & O. P. John (Eds.), Handbook of personality: Theory and research (2nd ed., pp. 525–552). New York: Guilford.Google Scholar
  25. Gurian, E. A., Kinnamon, D. D., Henry, J. J., & Waisbren, S. E. (2006). Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics, 117, 1915–1921.PubMedCrossRefGoogle Scholar
  26. Ivey, A. E., & Ivey, M. B. (2003). Intentional interviewing and counseling: Facilitating client development in a multicultural society (5th ed.). Pacific Grove: Thomson Learning.Google Scholar
  27. Jedlicka-Kohler, I., Gotz, M., & Eichler, I. (1996). Parents’ recollection of the initial communication of the diagnosis of cystic fibrosis. Pediatrics, 97, 204–209.PubMedGoogle Scholar
  28. Johnson, B., Jeppson, E. S., & Redburn, L. (1992). Caring for children and families: Guidelines for hospitals. Bethesda: Association for the Care of Children’s Health.Google Scholar
  29. Jones, A. M., & Helm, J. M. (2009). Emerging treatments in cystic fibrosis. Drugs, 69, 1903–1910.PubMedCrossRefGoogle Scholar
  30. Kessler, S. (Ed.). (1997). Genetic counseling: Psychological dimensions. New York: Academic.Google Scholar
  31. Kessler, S. (2001). Psychological aspects of genetic counseling XIV: nondirectiveness and counseling skills. Genetic Testing, 5, 187–191.PubMedCrossRefGoogle Scholar
  32. Knowles, M. S., Holton, E. F., & Swanson, R. A. (2005). The adult learner: The definitive classic in adult education and human resource development (6th ed.). New York: Elsevier.Google Scholar
  33. Kripalani, S., Bengtzen, R., Henderson, L. E., & Jacobson, T. A. (2008). Clinical research in low-literacy populations: using teach-back to assess comprehension of informed consent and privacy information. IRB, 30, 13–19.PubMedGoogle Scholar
  34. La Pean, A., & Farrell, M. H. (2005). Initially misleading communication of carrier results after newborn genetic screening. Pediatrics, 116, 1499–1505.PubMedCrossRefGoogle Scholar
  35. Lauver, D. R., Ward, S. E., Heidrich, S. M., Keller, M. L., Bowers, B. J., Brennan, P. F., et al. (2002). Patient-centered interventions. Research in Nursing & Health, 25, 246–255.CrossRefGoogle Scholar
  36. LeDoux, J. (1998). The emotional brain. London: Weidenfeld & Nicolson.Google Scholar
  37. LeRoy, B. S., McCarthy Veach, P., & Bartels, D. M. (Eds.). (2010). Genetic counseling practice: Advanced concepts and skills. Hoboken: Wiley-Blackwell.Google Scholar
  38. Lewis, L. J. (2010). Honoring diversity: Cultural competence in genetic counseling. In B. S. LeRoy, P. McCarthy Veach, & D. M. Bartels (Eds.), Genetic counseling practice: Advanced concepts and skills (pp. 201–233). Hoboken: Wiley-Blackwell.Google Scholar
  39. Lewis, S., Curnow, L., Ross, M., & Massie, J. (2006). Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening. Journal of Paediatrics and Child Health, 42, 533–537.PubMedCrossRefGoogle Scholar
  40. Lorenzen, B., Melby, C. E., & Earles, B. (2008). Using principles of health literacy to enhance the informed consent process. AORN Journal, 88, 23–29.PubMedCrossRefGoogle Scholar
  41. Lutz, B. J., & Bowers, B. J. (2000). Patient-centered care: understanding its interpretation and implementation in health care. Scholarly Inquiry for Nursing Practice, 14, 165–182.PubMedGoogle Scholar
  42. Matloff, E. T., Moyer, A., Shannon, K. M., Niendorf, K. B., & Col, N. F. (2006). Healthy women with a family history of breast cancer: impact of a tailored genetic counseling intervention on risk perception, knowledge, and menopausal therapy decision making. Journal of Women’s Health, 15, 843–856.PubMedCrossRefGoogle Scholar
  43. Matloff, E. T., Shannon, K. M., Moyer, A., & Col, N. F. (2007). Should menopausal women at risk for breast cancer use Tamoxifen, Raloxifene, or hormone therapy?: a framework for personalized risk assessment and counseling. Journal of Cancer Education, 22, 10–14.PubMedCrossRefGoogle Scholar
  44. Maynard, D. W. (2003). Bad news, good news: Conversational order in everyday talk and clinical settings. Chicago: University of Chicago Press.Google Scholar
  45. McCarthy Veach, P., LeRoy, B. S., & Bartels, D. M. (2003). Facilitating the genetic counseling process: A manual for practice. New York: Springer-Verlag.Google Scholar
  46. McKone, E. F., Goss, C. H., & Aitkens, M. L. (2006). CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest, 130, 1441–1447.PubMedCrossRefGoogle Scholar
  47. Mead, N., & Bower, P. (2000). Patient-centeredness: a conceptual framework and review of the empirical literature. Social Science & Medicine, 51, 1087–1110.CrossRefGoogle Scholar
  48. Meiser, B., Irle, J., Lobb, E., & Barlow-Stewart, K. (2008). Assessment of the content and process of genetic counseling: a critical review of empirical studies. Journal of Genetic Counseling, 17, 434–451.PubMedCrossRefGoogle Scholar
  49. Mishra, A., Greaves, R., Smith, K., Carlin, J. B., Wootton, A., Stirling, R., et al. (2008). Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals. Journal of Pediatrics, 153, 758–763.PubMedCrossRefGoogle Scholar
  50. Montgomery, G. S., & Howenstine, M. (2009). Cystic fibrosis. Pediatrics in Review, 30, 302–310.PubMedCrossRefGoogle Scholar
  51. Moran, J., Quirk, K., Duff, A. J., & Brownlee, K. G. (2007). Newborn screening for CF in a regional paediatric centre: the psychosocial effects of false-positive IRT results on parents. Journal of Cystic Fibrosis, 6, 250–254.PubMedCrossRefGoogle Scholar
  52. Morse, J. M. (2000). Responding to the cues of suffering. Health Care for Women International, 21, 1–9.PubMedCrossRefGoogle Scholar
  53. Morse, J. M. (2001). Toward a praxis theory of suffering. Advances in Nursing Science, 24, 47–59.PubMedGoogle Scholar
  54. Moskowitz, S. M., Chmiel, J. F., Sternen, D. L., Cheng, E., Gibson, R. L., Marshall, S. G., et al. (2008). Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genetics in Medicine, 10, 851–868.PubMedCrossRefGoogle Scholar
  55. Mozdzierz, G. J., Peluso, P. R., & Lisiecki, J. (2009). Principles of counseling and psychotherapy: Learning the essential domains and nonlinear thinking of master practitioners. New York: Routledge.Google Scholar
  56. Ormond, K. E., Mills, P. L., Lester, L. A., & Ross, L. F. (2003). Effect of family history on disclosure patterns of cystic fibrosis carrier status. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 119, 70–77.Google Scholar
  57. Ottowitz, W. E., Dougherty, D. D., & Savage, C. R. (2002). The neural network basis for abnormalities of attention and executive function in major depressive disorder: implications for application of the medical disease model to psychiatric disorders. Harvard Review of Psychiatry, 10, 86–99.PubMedCrossRefGoogle Scholar
  58. Parsons, E. P., Clarke, A. J., & Bradley, D. M. (2003). Implications of carrier identification in newborn screening for cystic fibrosis. Archives of disease in childhood. Fetal and neonatal edition, 88, F467–F471.PubMedCrossRefGoogle Scholar
  59. Pieterse, A. H., van Dulmen, A. M., Beemer, F. A., Bensing, J. M., & Ausems, M. G. E. (2007). Cancer genetic counseling: communication and counselees’ post-visit satisfaction, cognitions, anxiety, and needs fulfillment. Journal of Genetic Counseling, 16, 85–96.PubMedCrossRefGoogle Scholar
  60. Pilcher, J. J., & Huffcutt, A. I. (1996). Effects of sleep deprivation on performance: a meta-analysis. Sleep, 19, 318–326.PubMedGoogle Scholar
  61. Popli, K., Bourke, S., & Stewart, J. (2009). Fertility issues in men with cystic fibrosis: survey of knowledge and opinion of patients. Fertility and Sterility, 91(Suppl. 4), 1297–1298.PubMedCrossRefGoogle Scholar
  62. Richards, J. M., & Gross, J. J. (2000). Emotion regulation and memory: the cognitive costs of keeping one’s cool. Journal of Personality and Social Psychology, 79, 410–424.PubMedCrossRefGoogle Scholar
  63. Rock, M. J., Hoffman, G., Laessig, R. H., Kopish, G. J., Litsheim, T. J., & Farrell, P. M. (2005). Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. Journal of Pediatrics, 147(Suppl. 3), S73–S77.PubMedGoogle Scholar
  64. Rogers, C. R. (1965). Client-centered therapy, its current practice, implications, and theory. Boston: Houghton Mifflin.Google Scholar
  65. Rowntree, R. K., & Harris, A. (2003). The phenotypic consequences of CFTR mutations. Annals of Human Genetics, 67, 471–485.PubMedCrossRefGoogle Scholar
  66. Ryan, P., & Lauver, D. R. (2002). The efficacy of tailored interventions. Journal of Nursing Scholarship, 34, 331–7.PubMedCrossRefGoogle Scholar
  67. Sharp, J. K., & Rock, M. J. (2008). Newborn screening for cystic fibrosis. Clinical Reviews in Allergy & Immunology, 35, 107–115.CrossRefGoogle Scholar
  68. Smith, A. C. M., & Pollin, T. I. (2009). Patient education. In W. R. Uhlmann, J. L. Schuette, & B. M. Yashar (Eds.), A guide to genetic counseling (2nd ed.). Hoboken: Wiley-Blackwell.Google Scholar
  69. Soultan, Z. N., Foster, M. M., Newman, N. B., & Anbar, R. D. (2008). Sweat chloride testing in infants identified as heterozygote carriers by newborn screening. Journal of Pediatrics, 153, 857–859.PubMedCrossRefGoogle Scholar
  70. Tarini, B. A., Singer, D., Clark, S. J., & Davis, M. D. (2008). Parents’ concern about their own and their children’s genetic disease risk: potential effects of family history vs. genetic test results. Archives of Pediatrics & Adolescent Medicine, 162, 1079–1083.CrossRefGoogle Scholar
  71. Tluczek, A., Mischler, E. H., Farrell, P. M., Fost, N., Peterson, N. M., Carey, P., et al. (1992). Parents’ knowledge of neonatal screening and response to false-positive cystic fibrosis testing. Journal of developmental and behavioral pediatrics, 13, 181–186.PubMedCrossRefGoogle Scholar
  72. Tluczek, A., Koscik, R. L., Farrell, P. M., & Rock, M. J. (2005). Psychosocial risk associated with newborn screening for cystic fibrosis: parents’ experience while awaiting the sweat-test appointment. Pediatrics, 115, 1692–1703.PubMedCrossRefGoogle Scholar
  73. Tluczek, A., Koscik, R. L., Modaff, P., Pfeil, D., Rock, M. J., Farrell, P. M., et al. (2006). Newborn screening for cystic fibrosis: parents’ preferences regarding counseling at the time of infants’ sweat test. Journal of Genetic Counseling, 15(4), 277–291.PubMedCrossRefGoogle Scholar
  74. Tluczek, A., Orland, K. M., Nick, S. W., & Brown, R. L. (2009). Newborn screening: an appeal for improved parent education. The Journal of Perinatal & Neonatal Nursing, 23, 326–334.Google Scholar
  75. Tluczek, A., McKechnie, A. C., & Lynam, P. A. (2010a). When the cystic fibrosis label does not fit: a modified uncertainty theory. Qualitative Health Research, 20, 209–223.CrossRefGoogle Scholar
  76. Tluczek, A., Orland, K. M, & Cavanagh, L. (2010b). Psychosocial consequences of false-positive newborn screen for cystic fibrosis. Qualitative Health Research. Epub 2010 Sep 17.Google Scholar
  77. Voter, K. Z., & Ren, C. L. (2008). Diagnosis of cystic fibrosis. Clinical Reviews in Allergy & Immunology, 35, 100–106.CrossRefGoogle Scholar
  78. Waisbren, S. E., Albers, S., Amato, S., Ampola, M., Brewster, T. G., Demmer, L., et al. (2003). Effects of expanded newborn screening for biomedical genetic disorders on child outcomes and parental stress. Journal of the American Medical Association, 290, 2564–2572.PubMedCrossRefGoogle Scholar
  79. Wallace, A. S., Seligman, H. K., Davis, T. C., Schillinger, D., Arnold, C. L., Bryant-Shilliday, B., et al. (2009). Literacy-appropriate educational materials and brief counseling improve diabetes self-management. Patient Education and Counseling, 75, 328–333.PubMedCrossRefGoogle Scholar
  80. Waters, D. L., Wilcken, B., Irwig, L., Van Asperen, P., Mellis, C., & Simpson, J. M. (1999). Clinical outcomes of newborn screening for cystic fibrosis. Archives of disease in childhood. Fetal and Neonatal Edition, 80, F1–F7.PubMedCrossRefGoogle Scholar
  81. Weil, J. (2000). Psychosocial genetic counseling. New York: Oxford University Press.Google Scholar
  82. Wright, L. M., & Leahey, M. (2005). Nurses and families: A guide to family assessment and intervention (4th ed.). Philadelphia: F. A. Davis.Google Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2010

Authors and Affiliations

  • Audrey Tluczek
    • 1
  • Christina Zaleski
    • 2
  • Dania Stachiw-Hietpas
    • 3
  • Peggy Modaff
    • 4
  • Craig R. Adamski
    • 5
  • Megan R. Nelson
    • 6
  • Catherine A. Reiser
    • 7
  • Sumedha Ghate
    • 8
  • Kevin D. Josephson
    • 9
  1. 1.University of Wisconsin, School of NursingMadisonUSA
  2. 2.Marshfield ClinicMarshfieldUSA
  3. 3.Children’s Hospital of WisconsinMilwaukeeUSA
  4. 4.University of Wisconsin School of Medicine and Public HealthDepartment of PediatricsMadisonUSA
  5. 5.Michigan State UniversityEast LansingUSA
  6. 6.Aspirus Wausau HospitalWausauUSA
  7. 7.University of Wisconsin School of Medicine and Public HealthGenetic Counselor Training ProgramMadisonUSA
  8. 8.St. Vincent HospitalGreen BayUSA
  9. 9.Gundersen LutheranLaCrosseUSA

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