Table 3 Overview of key themes along the pathway of genetic diagnosis
From: Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
Steps | Key themes | Broad issues |
|---|---|---|
Before | Genetic knowledge in society | |
Reasons for testing | ||
Lack of diagnosis and diagnostic direction | Uncertainty | |
Vague idea of diagnosis | Medical acknowledgement | |
Confirmation of diagnosis | Naming and framing | |
Expectations | ||
Explanation | Â | |
Therapy | Â | |
Knowledge and acknowledgement | Â | |
During | Explanation of symptoms by “psychosomatic” factors | |
Genetic testing | ||
Process | Unclear responsibilities unclear timeframe Lot of expected personal initiative | |
Results | ||
Mediation and setting | Lack of expertise in reading and mediating results | |
After | Expertise and knowledge in health care | |
Consequences | ||
Short- and long-term | Directions for disease management and therapy Qualification for research projects/trials Orientation in health care system through diagnosis New self-understanding | |