Table 2.

Themes from interviews with health professionals and discussion at the events

Czech site	UK site
Post-test care: need to follow up with families after results have been shared, and recommendations for improvements in this area.
Telehealth: improve accessibility to facilitate communication with families, including via email and/or digital consultation.
Multidisciplinary approach: improve collaboration with non-genetic specialties as well as with allied health care professions (e.g. integrated service models).
Education: about genomics in general and rare disease in particular, particularly among non-genetic specialties and in collaboration with patient organisations.
Counselling skills: psychosocial support on challenging aspects of the family journey (e.g. expectation management, valuing negative results, managing feelings of guilt)
Lab reports: accessibility of language and content of the reports for families and non-genetic professionals.
Family-facing educational and information materials (e.g. improvements to service website)	Resources (e.g. workforce shortages, commissioning)
Service environment (e.g. wheelchair access, a suitable waiting room, a feeding and changing room for babies and toddlers)	IT and data sharing (e.g. patient database)