Table 4.

Priorities for improvement

Czech site	UK site
Health professional priorities
Post-test care: follow up with families after results have been shared	Post-test care: facilitate communication after results have been shared (e.g. telehealth)
Family-facing educational and information materials: provide resources and content of the service website	Multidisciplinary collaboration: information that can be used by non-genetic professionals (e.g. at the point of testing)
Lab reports: improve accessibility by and utility for families	Lab reports: clear and standardised reports to improve accessibility by non-genetic professionals
Family priorities
Post-test care: follow-up consultation	Communication at the point of testing: transparency and expectation management
Psychosocial support: involvement of psychologist and/or social worker at results delivery	Post-test care: support and advice after results are shared
Information provision	Post-test care: named point of contact
Manage feelings of guilt and blame	Communication about results availability
Improvement of service environment	Multidisciplinary care: better coordination between genetic and non-genetic professionals
Shared priorities
Follow-up consultation	Communication at the point of testing: transparency and expectation management
Managing feelings of guilt and blame	Named point of contact for follow up
Environmental improvements