Table 3.

Touch points from family interviews

Czech site	UK site
Personal utility: benefits families identified, including but not limited to the clinical utility of results (e.g. psychological benefits, benefits to other family members and future patients)
Making sense: the emotional impact of results and information overload at the consultation meant that time was needed to process the implications of the results.
Unmet needs: following the communication of results families often reported having unanswered questions and experiencing challenges in using the new information to improve their care, even when a diagnosis was confirmed.
Feelings of guilt and blame: families’ sense of responsibility about causing the patient’s disability and/or passing on the conditions, which could be induced and/or exacerbated by the results	Communication at the point of testing: lack of openness and transparency about the reasons for testing, the different types of possible results and the impact on family’s expectations.
Service environment: insufficiently spacious offices for large families, lack of barrier free-access and child-friendly spaces.	Communication about availability of results: issues related the communication to inform families that the results are ready, including lack of notice, provision of impartial information and/or long waiting times for appointment, lack of consultation on family preferences.