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Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

A. Costa, V. Franková, G. Robert, M. Macek, C. Patch, E. Alexander, A. Arellanesova, J. Clayton-Smith, A. Hunter, M. Havlovicová, R. Pourová, M. Pritchard, L. Roberts, V. Zoubková, A. Metcalfe

. 2022 ; 13 (3) : 313-327. [pub] 20220506

Jazyk angličtina Země Německo

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc22017044

Grantová podpora
779257 Horizon 2020
LM2018132 Ministerstvo Školství, Mládeže a Tělovýchovy
00064203/6003 Ministerstvo Zdravotnictví Ceské Republiky

The communication of genomic results to patients and families with rare diseases raise distinctive challenges. However, there is little evidence about optimal methods to communicate results to this group of service users. To address this gap, we worked with rare disease families and health professionals from two genetic/genomic services, one in the United Kingdom and one in the Czech Republic, to co-design that best meet their needs. Using the participatory methodology of Experience-Based Co-Design (EBCD), we conducted observations of clinical appointments (n=49) and interviews with family participants (n=23) and health professionals (n=22) to gather their experience of sharing/receiving results. The findings informed a facilitated co-design process, comprising 3 feedback events at each site and a series of meetings and remote consultations. Participants identified a total of four areas of current service models in need of improvement, and co-designed six prototypes of quality improvement interventions. The main finding was the identification of post-test care as the shared priority for improvement for both health professionals and families at the two sites. Our findings indicate the need to strengthen the link between diagnostics (whether or not a pathogenic variant is found) and post-test care, including psychosocial and community support. This raises implications for the reconfigurations of genomic service models, the redefinition of professional roles and responsibilities and the involvement of rare disease patients and families in health care research.

Citace poskytuje Crossref.org

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