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A Systematic Review of the Effects of Disclosing Carrier Results Generated Through Newborn Screening

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Journal of Genetic Counseling

Abstract

Evidence on the effects of disclosing carrier results identified through newborn screening (NBS) is needed to develop effective strategies for managing these results, and to inform debate about contradictory policies governing genetic testing in minors in the context of NBS relative to clinical care. This is likely to be even more important as technological opportunities for carrier identification through NBS increase. We report the results of a systematic review of evidence related to the generation of carrier results through NBS to summarize what is known about: (1) the outcomes associated with these results; (2) the best strategies for providing information and follow-up care to parents; and (3) the impact they have on reproductive decision-making. Our study expands the existing body of knowledge and identifies gaps in the evidence base. As key players in the management of carrier results clinically, genetic counselors are well positioned to engage in formative research and policy development in this area.

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References

  • American Society for Human Genetics/Advisory Council on Medical Genetics (1995). Points to consider: Ethical, legal and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 57, 1233–1241.

    Google Scholar 

  • Baroni, M. A., Anderson, Y. E., & Mischler, E. (1997). Cystic fibrosis newborn screening: Impact of early screening results on parenting stress. Pediatric Nursing, 23(2), 143–151.

    PubMed  CAS  Google Scholar 

  • Borry, P., Schotsman, P., Frynes, J. P., & Dierickx, K. (2006a). Carrier testing in minors: A systematic review of guidelines and positions statements. European Journal of Human Genetics, 14(2), 133–138. doi:10.1038/sj.ejhg.5201509.

    Article  PubMed  Google Scholar 

  • Borry, P., Stultiens, L., Nys, H., Cassiman, J. J., & Dierickx, K. (2006b). Presymptomatic and predictive genetic testing in minors: A systematic review of guidelines and position papers. Clinical Genetics, 70, 374–381. doi:10.1111/j.1399-0004.2006.00692.x.

    Article  PubMed  CAS  Google Scholar 

  • Ciske, D. J., Haavisto, A., Laxova, A., Rock, L. Z. M., & Farrell, P. M. (2001). Genetic counseling and neonatal screening for cystic fibrosis: An assessment of the communication process. Pediatrics, 108, 699–705. doi:10.1542/peds.107.4.699.

    Article  Google Scholar 

  • Cohen, C. B. (1998). Wrestling with the future: Should we test children for adult-onset genetic conditions? Kennedy Institute of Ethics Journal, 8(2), 111–130. doi:10.1353/ken.1998.0014.

    Article  PubMed  Google Scholar 

  • Comeau, A. M., Parad, R., Gerstle, R., O'Sullivan, B. P., Dorkin, H. L., Dovey, M., et al. (2005). Communication systems and their models: Massachusetts Parent Compliance with Recommended Specialty Care after Positive Cystic Fibrosis Newborn Screening Result. The Journal of Pediatrics, 147(3), S98–S100. doi:10.1016/j.jpeds.2005.08.007.

    Article  PubMed  Google Scholar 

  • Corbie-Smith, G., Thomas, S. B., Williams, M. V., & Moody-Ayers, S. (1999). Attitudes and beliefs of African Americans toward participation in medical research. Journal of General Internal Medicine, 14(9), 537–546. doi:10.1046/j.1525-1497.1999.07048.x.

    Article  PubMed  CAS  Google Scholar 

  • Curnow, L., Savarirayan, R., & Massie, J. (2003). Genetics counselling after carrier detection by newborn screening when one parent carries ΔF508 and the other R117H. Archives of Disease in Childhood, 88(10), 886–888.

    Article  PubMed  CAS  Google Scholar 

  • Davies, S. C., Cronin, E., Gill, M., Greengross, P., Hickman, M., & Normand, C. (2000). Screening for sickle cell disease and thalassaemia: A systematic review with supplementary research. Health Technology Assessment (Winchester, England), 4(3), 99.

    Google Scholar 

  • Day, S. W., Brunson, G. E., & Wang, W. C. (1997). Successful newborn sickle cell trait counseling program using health department nurses. Pediatric Nursing, 23(6), 557–561.

    PubMed  CAS  Google Scholar 

  • Farrell, M. H., Certain, L. K., & Farrell, P. M. (2001). Genetic counseling and risk communication services of newborn screening programs. Archives of Pediatrics & Adolescent Medicine, 155, 120–126.

    CAS  Google Scholar 

  • Farrell, M. H., La Pean, A., & Ladouceur, L. (2005). Content of communication by pediatric residents after newborn genetic screening. Pediatrics, 116(6), 1492–1498.

    Article  PubMed  Google Scholar 

  • Farrell, P. M., & Mischler, E. H. (1992). Newborn screening for cystic fibrosis. The Cystic Fibrosis Neonatal Screening Study Group. Advances in Pediatrics, 39, 35–70.

    PubMed  CAS  Google Scholar 

  • Green, J. M., Hewison, J., Bekker, H. L., Bryant, L. D., & Cuckle, H. S. (2004). Psychosocial aspects of genetic screening of pregnant women and newborns: A systematic review. Health Technology Assessment (Winchester, England), 8(33), 124.

    Google Scholar 

  • Green, N. S., & Pass, K. A. (2005). Neonatal screening by DNA microarray: Spots and chips. Nature Reviews. Genetics, 6, 147–151. doi:10.1038/nrg1526.

    Article  PubMed  CAS  Google Scholar 

  • Grosse, S. D., Boyle, C. A., Botkin, J. R., Comeau, A. M., Kharrazi, M., Rosenfeld, M., et al. (2004). Newborn screening for cystic fibrosis: Evaluation of benefits and risks and recommendations for state newborn screening programs. Morbidity & Mortality Weekly Report Recommendations & Reports, 53(RR-13), 1–36.

    Google Scholar 

  • Grossman, L. K., Holtzman, N. A., Charney, E., & Schwartz, A. D. (1985). Neonatal screening and genetic counseling for sickle cell trait. American Journal of Diseases of Children (1960), 139(3), 241–244.

    CAS  Google Scholar 

  • Grover, R., Newman, S., Wethers, D., Anyane-Yeboa, K., & Pass, K. (1986). Newborn screening for hemoglobinopathies: The benefit beyond the target. American Journal of Public Health, 76(10), 1236–1237.

    Article  PubMed  CAS  Google Scholar 

  • Kemper, A. R., Uren, R. L., Moseley, K. L., & Clark, S. J. (2006). Primary care physicians’ attitudes regarding follow-up care for children with positive newborn screening results. Pediatrics, 118(5), 1836–1841.

    Article  PubMed  Google Scholar 

  • Kladny, B., Gettig, E. A., & Krishnamurti, L. (2005). Systematic follow-up and case management of the abnormal newborn screen can improve acceptance of genetic counseling for sickle cell or other hemoglobinopathy trait. Genetics in Medicine, 7(2), 139–142. doi:10.1097/01.GIM.0000153662.88425.68.

    Article  PubMed  Google Scholar 

  • La Pean, A., & Farrell, M. H. (2005). Initially misleading communication of carrier results after newborn screening. Pediatrics, 116(6), 1499–1505.

    Article  PubMed  Google Scholar 

  • Lagoe, E., Labella, S., Arnold, G., & Rowley, P. T. (2005). Cystic fibrosis newborn screening: A pilot study to maximize carrier screening. Genetic Testing, 9(3), 255–260. doi:10.1089/gte.2005.9.255.

    Article  PubMed  CAS  Google Scholar 

  • Laird, L., Dezateux, C., & Anionwu, E. N. (1996). Neonatal screening for sickle cell disorders: What about the carrier infants? BMJ (Clinical Research Ed.), 313(7054), 407–411.

    CAS  Google Scholar 

  • 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(9), 533–537. doi:10.1111/j.1440-1754.2006.00917.x.

    Article  PubMed  Google Scholar 

  • Mischler, E. H., Wilfond, B. S., Fost, N., Laxova, A., Reiser, C., Sauer, C. M., et al. (1998). Cystic fibrosis newborn screening: Impact on reproductive behavior and implications for genetic counseling. Pediatrics, 102, 44–52. doi:10.1542/peds.102.1.44.

    Article  PubMed  CAS  Google Scholar 

  • Murray, J., Cuckle, H., Taylor, G., Littlewood, J., & Hewison, J. (1999). Screening for cystic fibrosis. Health technology assessment (Winchester, England), 3(8).

  • Nelson, R. M., Botkin, J. R., Kodish, E. D., Levetown, M., Truman, J. T., & Wilfond, B. S. (2001). American Academy of Pediatrics, Committee on Bioethics, ethical issues with genetic testing in pediatrics. Pediatrics, 107(6), 1451–1455. doi:10.1542/peds.107.6.1451.

    Article  PubMed  CAS  Google Scholar 

  • NIH Consensus Development Panel (1987). Newborn screening for sickle cell disease and other hemaglobinopathies. Journal of the American Medical Association, 258(9), 1205–1209. doi:10.1001/jama.258.9.1205.

    Article  Google Scholar 

  • Oliver, S., Dezateux, C., Kavanagh, J., Lempert, T., & Stewart, R. (2004a). Disclosing to parents newborn carrier status identified by routine blood spot screening. Cochrane Database of Systematic Reviews (Online: Update Software), 4, 003859.

    Google Scholar 

  • Oliver, S., Lempert, T., Stewart, R., Kavanaugh, J., & Dezateux, C.(2004b). Disclosing to parents newborn carrier status following routine blood spot screening. London: EPPI-Centre, Social Science Research Unit, Institute of Education, University of London.

  • 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(6), F467–F471. doi:10.1136/fn.88.6.F467.

    Article  PubMed  CAS  Google Scholar 

  • Pelias, M. K. (2006). Genetic-testing of children for adult-onset diseases: Is testing in the child's best interests? The Mount Sinai Journal of Medicine, New York, 73(3), 605–608.

    PubMed  Google Scholar 

  • Pelias, M. Z. (1991). Duty to disclose in medical genetics: A legal perspective. American Journal of Medical Genetics, 39, 347–354. doi:10.1002/ajmg.1320390320.

    Article  PubMed  CAS  Google Scholar 

  • Ranieri, E., Lewis, B. D., Gerace, R. L., Ryall, R. G., Morris, C. P., Nelson, P. V., et al. (1994). Neonatal screening for cystic fibrosis using immunoreactive trypsin and direct gene analysis: Four years experience. BMJ (Clinical Research Ed.), 308, 1469–1472.

    CAS  Google Scholar 

  • Ross, L. F. (2002). Predictive testing for conditions that present in childhood. Kennedy Institute of Ethics Journal, 12(3), 225–244. doi:10.1353/ken.2002.0019.

    Article  PubMed  Google Scholar 

  • Rowley, P. T. (1989). Parental receptivity to neonatal sickle trait identification. Pediatrics, 83(5), 891–893.

    PubMed  CAS  Google Scholar 

  • Scotet, V., De Braekeleer, M., Audrézet, M. P., Lodé, L., Verlingue, C., Quéré, I., et al. (2001). Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. Clinical Genetics, 59(1), 42–47. doi:10.1034/j.1399-0004.2001.590107.x.

    Article  PubMed  CAS  Google Scholar 

  • 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(6), 1692–1703. doi:10.1542/peds.2004-0275.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • UK Newborn Screening Program Centre (2005). Newborn blood spot screening in the UK: Policies and standards.

  • Wailoo, K. (2001). Dying in the city of the blues: Sickle cell anemia and the politics of race and health. University of North Carolina Press.

  • 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. doi:10.1097/00125817-200111000-00006.

    Article  PubMed  CAS  Google Scholar 

  • Wilfond, B. S., & Gollust, S. E. (2005). Policy issues for expanding newborn screening programs: The cystic fibrosis newborn screening experience in the United States. The Journal of Pediatrics, 146(5), 668–674. doi:10.1016/j.jpeds.2004.11.029.

    Article  PubMed  Google Scholar 

  • Yang, Y. M., Andrews, S., Peterson, R., Shah, A., & Capeda, M. (2000). Prenatal sickle cell screening education effect on the follow-up rates of infants with sickle cell trait. Patient Education and Counseling, 39(2–3), 185–189.

    Article  PubMed  CAS  Google Scholar 

  • Zeuner, D., Ades, A. E., Karnon, J., Brown, J., Dezateux, C., & Anionwu, E. N. (1999). Antenatal and neonatal haemoglobinopathy screening in the UK: Review and economic analysis. Health Technology Assessment (Winchester, England), 3(11), 186.

    Google Scholar 

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Acknowledgements

We would like to acknowledge the financial support of the Ontario Ministry of Health and Long-Term Care (06358). Fiona Miller is supported by a New Investigator Award from the Institute of Health Services and Policy Research of the Canadian Institutes of Health Research (FRN # 80495). Sponsors’ support of this work should not imply endorsement of the conclusions, for which the authors retain sole responsibility.

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  1. Department of Health Policy Management and Evaluation, University of Toronto, 155 College Street, 4th Floor, Toronto, ON, M5T 3M6, Canada

    R. Z. Hayeems, J. P. Bytautas & F. A. Miller

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  1. R. Z. Hayeems
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  3. F. A. Miller
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Correspondence to R. Z. Hayeems.

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Hayeems, R.Z., Bytautas, J.P. & Miller, F.A. A Systematic Review of the Effects of Disclosing Carrier Results Generated Through Newborn Screening. J Genet Counsel 17, 538–549 (2008). https://doi.org/10.1007/s10897-008-9180-1

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