Peer-reviewed article
Young adults' understanding of, and reaction to, those with uncertain genetic results.
Ulph F, Fifield K, Christie G, Horowitz E ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study explores how young adults understand and react to peers with cystic fibrosis screen positive inconclusive diagnosis (CFSPID) from newborn screening. The research found that without specific knowledge, young adults relied on assumptions about cystic fibrosis and genetic conditions to make sense of CFSPID, leading to beliefs that affected individuals would need more support and be treated differently. Most participants wanted to be supportive but were uncertain about how to interact with or ask questions of someone with CFSPID. The study concludes that simply providing information about how CFSPID differs from cystic fibrosis was insufficient to change these misconceptions.
Key points
- Young adults without CFSPID knowledge used assumptions about cystic fibrosis and genetic illness to form their understanding
- Participants expressed willingness to support friends and romantic partners with CFSPID but believed such individuals would need more physical and psychological support
- Some young adults reported they would avoid romantic relationships with people who have CFSPID, though this was rare
- All assumptions that people with CFSPID would be treated differently were based on erroneous knowledge gaps
- Providing factual information about CFSPID being different from CF did not sufficiently counter reliance on CF-based assumptions
Limitations
This study focuses on young adults' hypothetical reactions and understanding rather than actual experiences of children with CFSPID, and does not measure whether interventions could effectively change misconceptions or improve social acceptance. The study does not provide information about how children themselves experience or are affected by uncertain genetic diagnoses.
Abstract
Background Genetic advances increase the likelihood that children may receive uncertain diagnoses such as cystic fibrosis screen positive inconclusive diagnosis (CFSPID) from newborn screening. Research suggests a profound impact on parents. Research is needed to understand the impact on the child, especially at key developmental points such as young adulthood, when identity forms. As young adults (YA) are influenced by peer reactions, this novel study explored YAs' sensemaking of CFSPID, and their hypothetical reactions to peers or romantic partners with CFSPID. Methods Four focus groups were conducted and analysed using thematic analysis across three sections: understanding, peer and romantic relationships. Results Understanding: Without knowledge about CFSPID, participants used cystic fibrosis, genetic and contagious illness knowledge to form assumptions. Peer and romantic relationships: In both sections, YAs wanted to support their friend/partner; however, their responses revealed assumptions that a person with CFSPID would need more physical and psychological support and would be seen differently by some. Most wanted to learn more but were unsure whether it was appropriate to ask the person with CFPSID. Although rare, some reported they would avoid romantic relationships with YAs with CFSPID. All data suggesting people with CFPSID would be treated differently was based on erroneous assumptions due to a lack of CFSPID knowledge. Providing information about how CFPSID is different from CF did not appear sufficient to stop a reliance on CF knowledge when making sense of CFSPID. Conclusion Further research should explore whether it's possible to change assumptions when YAs disclose uncertain results.