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. 2024 Feb 14;19(1):68.
doi: 10.1186/s13023-024-03058-4.

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

Antonia Modelhart  1   2 , Dominique Sturz  3   4   5   6 , Lydia Kremslehner, Barbara Prainsack  7   8
Affiliations

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

Antonia Modelhart et al. Orphanet J Rare Dis. .

Abstract

Background: Genetic diagnosis is often understood as a single event within the care pathway of rare disease patients. Legal, policy and ethical scholarship focusing on rare diseases and genetic information discusses questions of how to best deal with the process of genetic diagnosis and the communication of genetic information within a given health system. We co-created a research design with rare disease patients and their families in Austria to explore in-depth the experiences of genetic diagnosis for people affected by rare diseases. Our objective was to trace the whole pathway of genetic testing and understand how rare disease patients experience genetic diagnosis as part of their care pathway in the healthcare system.

Results: Data was collected through in-depth semi-structured qualitative interviews with 14 patients with a suspected or diagnosed rare disease or their parents, focusing on their perception of the pathway of genetic diagnosis in Austria. This pathway included the initial triggering of genetic diagnosis, the process of testing and its immediate (communication of results, counselling) and long-term, wider aftermath. Patients missed a clear link to already established forms of care such as their primary care/treating physicians. They also advocate for an integrated and interdisciplinary care pathway.

Conclusions: Our study underscores the importance of a continuous care and communication pathway spanning from the initial genetic diagnosis process to post-test phases. It further shows the importance of exploring patients' perspectives through qualitative research methods to understand the intricate workings of public health policies and tools. Integrating genetic diagnosis into a broader care trajectory is crucial for a holistic approach to care for rare disease patients who often rely on regular interactions with the healthcare system. Achieving this holistic approach requires collaboration between experts in specific rare disease areas, primary care physicians, and support networks.

Keywords: Genetic diagnosis; Healthcare system; Patient experiences; Qualitative interview study; Rare diseases.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Regulatory framework for genetic diagnosis in Austria
Fig. 2
Fig. 2
Genetic testing pathway in practice
See this image and copyright information in PMC

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