Table 4 Relevant knowledge for patient in pre-testing phase
From: Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
Process | Knowledge | Consequences |
|---|---|---|
What is being done? | What can be explained by genetic knowledge? | What outcomes or non-outcome spanning consequences are possible |
Patients want to know the steps of genetic diagnosis, the different phases and corresponding timeframes | Patients wish for a pragmatic evaluation of what a result may or may not indicate and what can be done about it in different versions | Patients want to be prepared for potential consequences for oneself, but also family members |