Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice

Abstract

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A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status

“…13 However, as highlighted by our results, if testing is not provided, it might be sought elsewhere from professionals (such as GPs) who have less expertise. 37 This is problematic if parents consequently misunderstand results 18 and transmit this information to children.…”

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

“…Protocols using IRT alone or IRT/IRT have a high false-positive rate 4. The major drawback of using CFTR mutation analysis is the high number of identified healthy carriers and cases with an equivocal diagnosis 1 5…”

A qualitative study exploring genetic counsellors’ experiences of counselling children

“…Studies have explored children's psychosocial adaptation to genetic testing, [9][10][11][12] and the feasibility of secondary school genetic testing programmes. [13][14][15][16][17][18][19][20][21] Concerns remain, however, about children's ability to understand carrier status results following newborn screening as a recent interview study of parents who had received carrier results for their child following newborn screening reports that school-based learning may be one of the triggers for parents to inform their child.…”