Long-term evaluation of genetic counseling following false-positive newborn screen for cystic fibrosis

Journal of Genetic Counseling

Volumn 19, Issue 2, 2010, Pages 199-210

  Cavanagh, Laura ^a   Compton, Cecilia J ^b   Tluczek, Audrey ^c,d   Brown, Roger L ^c,d   M Farrell, Philip ^d  

^a Genetics Center   (United States)

^b University of Wisconsin School of Nursing ^*  (United Kingdom)

^c UNIVERSITY OF WISCONSIN MADISON SCHOOL OF NURSING   (United States)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Cystic fibrosis; False positive; Genetic counseling; Newborn screening; Psychosocial

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; EVALUATION; GENETIC COUNSELING; GENETICS; HETEROZYGOTE DETECTION; HUMAN; LABORATORY DIAGNOSIS; NEWBORN; NEWBORN SCREENING; STANDARD;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FALSE POSITIVE REACTIONS; GENETIC COUNSELING; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING;

EID: 77953056735     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-009-9274-4     Document Type: Article

References (33)

1. American Academy of Pediatrics Committee on Ethics. (2001). Ethical issues with genetic testing in pediatrics. Pediatrics, 107, 1451-1455.
2. Amos, J., Feldman, G. L., Grody, W. W., Monaghan, K., Palomaki, G. E., Prior, T. W., et al. (2006). American College of Medical Genetics. American college of medical genetics: Technical standards and guidelines for CFTR mutation testing: 2006 Edition. Retrieved June 1, 2009, from http://www.acmg.net/Pages/ACMG-Activities/stds-2002/cf.htm.
3. Borry, P., Fryns, J.-P., Schotsmans, P., & Dierickx, K. (2006). Carrier testing in minors: a systematic review of guidelines and position papers. European Journal of Human Genetics, 14, 133-138.
4. Chew, L. D., Bradley, K. A., & Boyko, E. J. (2004). Brief questions to identify patients with inadequate health literacy. Family Medicine, 36(8), 588-594.
5. 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.
6. Cobb, E., Holloway, S., Elton, R., & Raeburn, J. A. (1991). What do young people think about screening for cystic fibrosis? Journal of Medical Genetics, 28(5), 322-324.
7. Cole, M., & Cole, S. R. (2001). The development of children (4th ed.). New York: Worth Publishers.
8. Collins, M. S., Abbott, M. A., Wakefield, D. B., Lapin, C. D., Drapeau, G., Hopfer, S. M., et al. (2008). Improved pulmonary and growth outcomes in cystic fibrosis by newborn screening. Pediatric Pulmonology, 43, 648-655.
9. Cystic Fibrosis Foundation. (2008). Patient registry annual data report 2007. Retrieved June 1, 2009, from http://www.cff.org/UploadedFiles/research/ ClinicalResearch/2007-Patient-Registry-Report.pdf.
10. Farrell, M. H., Certain, L. K., & Farrell, P. M. (2001). Genetic counseling and risk communication services of newborn screening programs. Archives of Pediatric Adolescent Medicine, 155, 120-126.
11. Farrell, P. M., Kosorok, M. R., Rock, M. J., Laxova, A., Zeng, L., Lai, H. C., et al. (2001). Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics, 107(1), 1-13.
12. Farrell, P. M., Lai, H. J., Li, Z., Kosorok, M. R., Laxova, A., Green, C. G., et al. (2005). Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: Enough is enough! Journal of Pediatrics, 147, S30-36.
13. 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.
14. Fiedman, M. M., Bowden, V. R., & Jones, E. G. (2003). Family nursing: Research, theory, and practice (5th ed.). Upper Saddle River: Prentice Hall.
15. Forsyth, B. W. C., & Canny, P. F. (1991). Perceptions of vulnerability 3 years after problems of feeding and crying behavior in early infancy. Pediatrics, 88(4), 757-763.
16. Forsyth, B. W. C., Horwitz, S. M., Leventhal, J. M., Burger, J. (1996). The child vulnerability scale: An instrument to measure parental perceptions of child vulnerability. Journal of Pediatric Psychology, 21(1), 89-101.
17. Gallo, A. M., Angst, D., Knafl, K. A., Hadley, E., & Smith, C. (2005). Parents sharing information with their children about genetic conditions. Journal of Pediatric Health Care, 19(5), 267-275.
18. Green, M., & Solnit, A. J. (1964). Reactions to the threatened loss of a child: a vulnerable child syndrome: pediatric management of the dying child, part III. Pediatrics, 34, 58-66.
19. Gurian, E. A., Kinnamon, D. D., Henry, J. J., & Waisbren, S. E. (2006). Expanded newborn screening for biomedical disorders: the effects of false-positive result. Pediatrics, 117(6), 1915-1921.
20. Kerruish, N. J., Campbell-Stokes, P. L., Gray, A., Merriman, T. R., Robertson S. P., et al. (2007). Maternal psychological reaction to newborn genetic screening for type 1 diabetes. Pediatrics, 120 (2), e324-335.
21. Kloosterboer, M., Hoffman, G., Rock, M. J., Gershan, W., Laxova, A., Li, Z., et al. (2009). Clarification of laboratory variables influencing CF newborn screening with initial analysis of immunoreactive trypsinogen. Pediatrics, 123, 338-346.
22. Krippendorff, K. (2004). Content analysis: An introduction to its methodology (2nd ed.). Thousand Oaks: Sage Publications.
23. Lewis, S., Curnow, L., Ross, M., & Massie, J. (2006). Parental attitudes to the identification of their infants as carriers of cystic fibrosis by NBS. Journal of Paediatrics and Child Health, 42, 533-537.
24. Metcalfe, A., Coad, J., Plumridge, G. M., Gill, P., & Farndon, P. (2008). Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research. European Journal of Human Genetics, 16(10), 1193-1200.
25. Morris, N. S., MacLean, C. D., Chew, L. D., & Littenberg, B. (2006). The single item literacy screener: evaluation of a brief instrument to identify limited reading ability. BMC Family Practice, 24, 7-21.
26. 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(12), 851-868.
27. National Newborn Screening and Genetics Resource Center. (2009). National newborn screening status report. Retrieved June 1, 2009, from http://genes-r-us.uthscsa.edu/nbsdisorders.pdf.
28. 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, 88, 467-471.
29. Poulakis, Z., Barker, M., & Wake, M. (2003). Six month impact of false positives in an Australian infant hearing screening programme. Archives of Diseases in Children, 88, 20-24.
30. 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, S73-77.
31. 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(3), 181-186.
32. 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. JAMA, 290(19), 2564-2572.
33. Wheeler, P. G., Smith, R., Dorkin, H., Parad, R. B., Comeau, A. M., & Bianchi, D. W. (2001). Genetic counseling after implementation of statewide cystic fibrosis newborn screening: two years' experience in one medical center. Genetics in Medicine, 3(6), 411-415.