Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study.

This study explored the experiences of people with rare diseases and their families as they went through genetic testing in Austria. Researchers interviewed 14 patients or parents to understand the entire process, from deciding to have genetic testing to receiving results and managing care afterwards.

The findings showed that patients often felt there was not enough connection between genetic testing services and their usual doctors. They wanted better communication, clearer guidance and more joined-up care throughout the process.

The study concludes that genetic testing should not be treated as a one-off event but as part of a person’s ongoing healthcare journey. Better collaboration between genetic specialists, other healthcare professionals, family doctors and support networks could help people with rare diseases and their families receive more coordinated, continuous support.

Modelhart A, Sturz D, Kremslehner L, Prainsack B. Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study. Orphanet J Rare Dis. 2024 Feb 14;19(1):68. doi: 10.1186/s13023-024-03058-4. PMID: 38355619; PMCID: PMC10868115.

Published in Orphanet J Rare Dis . 2024 Feb 14