6 How should we manage incidental identification of carrier status in children?

Abstract

Objective When a child is diagnosed with cystic fibrosis, their siblings are at risk of being carriers. While international guidelines recommend against carrier testing in children, carrier status may be identified incidentally in childhood through 1) newborn screening programs, 2) genetic testing to exclude affected status in a sibling, or 3) prenatal testing. This study aims to assess how genetic health professionals discuss incidental carrier status and explore parents' experiences of receiving this information following the diagnosis of a child with cystic fibrosis. Methods These findings emerged from a broader qualitative study examining requests for and communication of carrier results with 17 key informant health professionals and 32 parents of children with genetic conditions. Inductive content was used to analyse the data. Results The data showed variable practices in the disclosure of incidental carrier findings to parents. Some parents who did not asked to know the carrier status of their child or fetus were given this information, with many not appreciating they will be told. While some parents were relieved to find their children were ‘just carriers', others experienced mixed emotions. Conclusion This paper uses the interview data to discuss whether it is appropriate to report carrier results to parents who do not specifically request testing. It highlights the inconsistency of these practices compared to international recommendations not to grant carrier testing if parents explicitly request testing for their children, assessing the potential for harm.