Table 4 Summary of meta-synthesis.

From: Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research

1. Key concepts

 

2. Second-order analyses

 

3. Third-order analysis

Uncertainty and identity “you don’t know what’s round the corner for these kids, they’re doing fine now but in five, six years they might not be” [31 (p. 8)]

Uncertain futures; liminal identities: Prolonged uncertainty about the the clinical significance of the result and the impact (if any) it will have. Knowledge of result clashes with experience of apparently healthy child.

Features of the experience identified from the analysis suggest that…

 

Emotional response ‘as if a death occurred’ [26 (p. 56])

The emotional impact of a child’s uncertain screening result: Strong negative emotional impact upon receipt of result and continuing long term in complex ways. Strong emotions may affect understanding of medical information.

Behavioural response “sleeping in her room with my hand on her back to make sure that I could feel her breathing” [28 (p.169)]

Behavioural impact, and the impact of behaviour: Coping with result by adopting behaviours such as ‘preventative’ measures, vigilance, lifestyle changes. Paradoxically may actually put focus on disease and perpetuate anxiety and ‘sick role’.

Uncertain screening results do not fit the traditional medical model

Cognitive response ‘a dynamic process of trying to make sense of the risk’ [32 (p. 350)]

Cognitive appraisal of the meaning and value of the result: Drive to understand and figure out what the result means for them, often by referring to other types of risk, and the perceived benefits of knowing about the result.

(a model which implies one is either sick or healthy)

and therefore…

Medicine and the role of professionals ‘collectively negotiating the parameters of the anomaly’ [25 (p. 212)]

‘A new medical model’: bridging the gap. New types of screening results cause uncertainty for laypeople and professionals alike. This may cause issues between patients and professionals, but may also present opportunities for new ways of working to collaborate and reframe uncertainty.

Uncertain screening results disrupt identity

Individual differences, communication and information needs “The thing that stuck in my head was that sound and that horrible coughing” [27 (p. 214)]

Individual and intra-individual differences in understanding and coping: Between individuals (own experiences with disease; mental health; education; SES; language; culture); within individuals over time (contextual factors e.g. medical visits); within couples and families.

(due to responses to result in context of traditional medical model)