Young adults’ understanding of, and reaction to, those with uncertain genetic results

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.