Disparities in Current and Future Childhood and Newborn Carrier Identification
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PROFESSIONAL ISSUES
Disparities in Current and Future Childhood and Newborn Carrier Identification Melissa Noke & Alison Wearden & Sarah Peters & Fiona Ulph
Received: 23 October 2013 / Accepted: 24 June 2014 / Published online: 11 July 2014 # National Society of Genetic Counselors, Inc. 2014
Abstract International carrier testing guidelines discourage testing in childhood to preserve autonomous decision making and prevent detrimental psychosocial consequences. Despite the discouragement of autosomal recessive carrier testing during childhood, some sickle cell disease (SCD) or cystic fibrosis (CF) carriers are incidentally identified through UK and international newborn screening (NBS). This creates a scenario where parents may have knowledge of their newborn’s, but not older child’s carrier status. In addition, there is wide variation in the identification of CF and SCD carriers due to the screening technologies implemented by different NBS programs. The current and future availability of childhood testing are determined to some extent by the impact of testing on children and parents (whether this is beneficial or detrimental to wellbeing). However empirical research informing carrier guidance and practice is conflicting. Echoing previous calls, this discussion highlights the need for further qualitative and longitudinal research with children to consider the psychosocial impact of carrier testing on children and role of disclosure from parents on adaptation to results. It is recommended that professionals aim to minimize harms resulting from carrier identification by providing support for parents and children following NBS. Support for non-genetics specialists from genetic counselors to enable discussion of carrier results with children is suggested.
Keywords Carrier testing . Newborn screening . Children . Psychosocial impact
M. Noke (*) : A. Wearden : S. Peters : F. Ulph School of Psychological Sciences, University of Manchester, Oxford Road, Manchester M13 9PL, UK e-mail: [email protected]
Background to the Disparities in Newborn and Childhood Carrier Identification Newborn screening programs (NBS) internationally identify individuals affected by autosomal recessive disorders. NBS for cystic fibrosis (CF) is universally undertaken in Australia (Castellani & Massie, 2014), the United States (US) (National Newborn Screening and Global Resource Center, 2013), and numerous countries in Europe including the United Kingdom (UK) (Southern et al., 2007). Sickle cell disease (SCD) is also universally screened via NBS across the UK (UK National Screening Committee, 2012) and US (National Newborn Screening and Global Resource Center, 2013). While the main purpose of NBS is to identify newborns affected by the disorders, screening technologies sometimes identify genetic carriers for some CF and SCD mutations (Collins et al., 2013; Farrell & Christopher, 2013). Despite the routine identification of newborn carriers through NBS, international carrier testing guidance has historically discouraged autosomal rec
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