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.

Česká asociace pro vzácná onemocnění Rare Diseases Czech Republic Bělohorská 19 Praha 6 169 00 Czech Republic

Department of Biology and Medical Genetics Charles University 2nd Faculty of Medicine and University Hospital Motol Prague Czech Republic

Department of Paediatrics and Inherited Metabolic Disorders Charles University 1st Faculty of Medicine and General University Hospital Prague Czech Republic

Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester Manchester M13 9PL UK

Engagement and Society Wellcome Connecting Science Hinxton CB10 1SA Cambridgeshire UK

Faculty of Nursing Midwifery and Palliative Care King's College London London SE1 8WA UK

Genetic Alliance UK London EC2A 4NE UK

Genomics England London EC1M 6BQ UK

Institute for Medical Humanities Charles University 1st Faculty of Medicine Prague Czech Republic

Manchester Centre For Genomic Medicine University of Manchester St Mary's Hospital Manchester M13 9WL UK

Syndromes Without A Name London EC2A 4NE UK

Zinc Ventures London UK

J Community Genet. 2022 Jun;13(3):365-369. doi: 10.1007/s12687-022-00592-1. PubMed

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