Authors: Alessia Costa, Vera Frankova
Background: as genome sequencing is rapidly moving from research to clinical practice, evidence is needed to understand the experience of patients with rare diseases and their families. In the presentation, we discuss families’ experience of receiving, making sense of and living with genomic information. The presentation includes video-clips from two short films from families’ narratives.
Materials and methods: we draw on filmed, narratives interviews with 17 families in the United Kingdom and Czech Republic. The interviews were coded and thematically analysed.
Results: we present findings on three qualitative themes: i) families’ experience of receiving results; ii) what happens next; iii) the personal utility of genomic testing from families’ perspective.
Conclusions: the findings indicate that a diagnosis is not the end of families’ journey. Communication about genomic testing was often focused on facilitating families understanding what the result ‘is’, and opportunities were needed to enable families to formulate and discuss questions about what it ‘meant’ to them. Moreover, families often continued to experience significant uncertainty in their everyday life, particularly in the case of new, ultra-rare diagnoses. Specifically, families struggled with the lack of information on the course of the disease, the difficulties to access support and navigate health and social care services, and the challenges related to making sense of the implications of genomic information for other family members. Despite these issues, families identified a wide range of benefits from taking part in genome sequencing, which were broader than the clinical utility of the diagnosis. The findings raise questions regarding how to talk about ‘diagnosis’ in a way that reflects families’ experience, including their uncertainty but also their perceived benefits. They also have implications for the design and delivery of health services in the genomic era, pointing to the need to better support families after their search for a diagnosis.
Acknowledgements: We thank all the families who took part in the interviews, the staff of the health services and charities who collaborated to advertise the study to eligible participants and the members of the family advisory groups who reviewed the interview schedule and provided invaluable feedback on the preliminary findings.
The full session can be viewed here. Alessia and Vera's presentation begin at 10 minutes. The Q&A begins at 1 hour 8 minutes.
"This session will explore what happens after the completion of genetic analysis from the perspective of patients and health professionals. The session aims to explore what is important to patients regarding their potential diagnosis (or lack thereof) and future care pathways; to discuss innovative ways of working with health professionals and patients to develop interventions which support these care pathways; and to appreciate the developing role of networks in the delivery of new approaches to aspects of care for rare diseases"
Dr. Alessia Costa, King’s College London, UK
Prof. Glenn Robert, King’s College London, UK
Dr. Holm Graessner, Solve-RD and ERN-RND, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany
Dr. Vera Frankova, Univerzita Karlova
Dr. Sofia Douzgou, ESHG Representative, Manchester Centre for Genomic Medicine, UK
Costa A, Frankova V (2020). What next after the search for a diagnosis? Hearing families’ experiences. Spoken presentation. Session 0104: What’s Next After the Search for a Diagnosis? The Future of Specialised Health Services at the 10th European Conference on Rare Diseases & Orphan Products. Online, 15th May.