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Informing Children of Their Newborn Screening Carrier Result for Sickle Cell or Cystic Fibrosis: Qualitative Study of Parents’ Intentions, Views and Support Needs

  • Original Research
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Journal of Genetic Counseling

Abstract

Newborn screening for cystic fibrosis and sickle cell disease enables the early identification and treatment of affected children, prolonging and enhancing their quality of life. Screening, however, also identifies carriers. There are minimal or no health concerns for carriers. There are, however, potential implications when carriers reach reproductive age, and thus research attention has been given to how best to convey information about these implications in a meaningful, balanced way which does not raise undue anxieties. Most research focuses on the communication from health professional to parent, yet ultimately this information is of greatest significance to the child. This study examines parents’ intentions to inform their child of newborn screening carrier results. Semi-structured interviews with 67 family members explored their intentions to inform the child, and related views and support needs. Parents almost unanimously indicated they planned to inform the child themselves. Health professionals were expected, however, to provide guidance on this process either to parents through advice and provision of written materials, or directly to the child. Although parents initially stated that they would convey the result once their child had developed the ability to understand the information, many appeared to focus on discrete life events linked to informed reproductive decision making. The results highlight ways in which health care providers may assist parents, including providing written material suitable for intergenerational communication and ensuring that cascade screening is accessible for those seeking it. Priorities for further research are identified in light of the results.

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Notes

  1. A recall system was being mooted by the service which communicated with this mother. It is not common practice in the UK.

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Acknowledgments

Thank you to all study participants and health professionals who assisted with recruitment. We particularly thank Hilda Parker for her contribution as senior research fellow while at University of Nottingham. Thank you also to Angela Beighton and Kath Bellfield for transcription of interviews and administrative support. This project formed part of research, funded by the NIHR Health Technology Assessment programme (project number 04/10/01, chief investigator: Joe Kai) and is published in full in Health Technology Assessment; Vol. 13, No. 57. The views and opinions expressed therein are those of the authors and do not necessarily reflect those of the HTA programme, NIHR, NHS or the Department of Health

Disclosure of Interest

Authors Ulph, Cullinan, Qureshi & Kai declare they have no conflict of interest.

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Authors and Affiliations

  1. School of Psychological Sciences, University of Manchester, Oxford Road, Manchester, M13 9PL, UK

    Fiona Ulph

  2. East Staffordshire Clinical Commissioning Group, Edwin House, Second Avenue, Burton upon Trent, Staffordshire, DE14 2WF, UK

    Tim Cullinan

  3. School of Community Health Sciences, University of Nottingham, University Park, Nottingham, NG7 2RD, UK

    Nadeem Qureshi & Joe Kai

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  1. Fiona Ulph
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Correspondence to Fiona Ulph.

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Ulph, F., Cullinan, T., Qureshi, N. et al. Informing Children of Their Newborn Screening Carrier Result for Sickle Cell or Cystic Fibrosis: Qualitative Study of Parents’ Intentions, Views and Support Needs. J Genet Counsel 23, 409–420 (2014). https://doi.org/10.1007/s10897-013-9675-2

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