The potential lack of adequate representation of people of different ethnic backgrounds in the evidence reviewed and the implications of this for population screening were highlighted above (Limitations). In addition to ensuring that ongoing genomic studies generate evidence for genotype–phenotype correlations from an ethnically diverse population, it is important to ensure an inclusive approach to the recruitment of PPIE contributors and the patients whom they represent.
Recruitment was targeted to people with experience with rare conditions (adults living with a rare condition and parents of children with rare genetic conditions) and advocates working in the area of rare genetic conditions. We were successful in recruiting people with a broad range of experience with genetic conditions. None of the group members with lived experience of rare genetic conditions (parents and adult living with a rare condition) had experience with the same genetic condition as anyone else in the group. Most of the group members had not been involved with research or PPIE previously.
Due to the time constraints on recruitment and the focus on experience with rare conditions, we did not target recruitment by demographic variables (age, socioeconomic status, geographical location, ethnicity and so on). Most group members were female, which may reflect the tendency for mothers to become the primary caregivers when they have a child with ‘medical complexities’.181 There was a diversity in the ages of the children they supported (under 5 years to over 20 years) and therefore the stage of caring for/supporting a child with a rare condition. As indicated in the discussion, for future work (and with more time available), we would wish to expand the viewpoints represented, by, for example, including more public voices, and ensure diversity of background and experiences, including recruiting from underserved groups.
Much consideration was given to the amount, format and content of documentation provided to participants to maximise accessibility and their understanding of concepts and complexities (e.g. terms such penetrance and expressivity). This also included producing a lay summary of the draft report for meeting 4, where the PPIE group had the opportunity to discuss the findings and ask questions of a representative of the review team. Evaluation forms sent after each form checked with the participants that they were happy with the information that had been provided and asked if we could improve on this; feedback for this was entirely positive, and all participants expressed an interest in being involved in future work in this area.