Table 2 Overview of typical pathways in Austria
From: Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
| Â | (1) Genetic diagnosis through treating physicians (a specialist with specific knowledge in genetics) | (2) Genetic diagnosis through genetic counselling |
|---|---|---|
Main points | Clear connection to treatment/disease management pathways, more established care relationships | Transparent and clear testing pathway |
Value of knowledge | Diagnosis, proof, medical understanding, and orientation | Confirmation of a diagnosis made through other means, biographical explanation through family tree |
Use for patients | Disease management, acknowledgement, post-test care | Explanation, knowledge, making sense, familiar consequences |