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Page 24 Hunter et al. J Transl Genet Genom 2023;7:17-26 https://dx.doi.org/10.20517/jtgg.2022.19

Table 1. Case study 1 - reflections on PPI structure, process and outcome
PPI in “evaluation of the NHS Genomic Medicine Service for paediatric rare diseases”
Structure
Research aim:
• To understand how genome sequencing for paediatric rare diseases is being delivered in the new Genomic Medicine Service (GMS) [38] , with
a focus on barriers and enablers to successful delivery.
PPI team:
• Representatives from Genetic Alliance UK and Unique, and three parent representatives recruited through SWAN UK (Syndromes without a
[39-41]
name) , who sit on the study advisory board
Process
Recruitment:
• By advertisement distributed through the patient groups’ social media channels explaining the role, who the researchers were looking for
(parents with experience of an undiagnosed child, and experience of genetic or genomic testing), and what the expectations of the PPI group
would be. The lead researcher spoke to potential participants by phone, and both were recruited.
• Diversity: the researchers stated in recruitment advertisements that they were keen to include representation from different ethnic groups,
and from fathers. One mother with South Asian heritage applied and joined, but no fathers applied. It was important to recruit individuals with
lived experience to complement the patient organisation representatives who may not be representative of the wider community.
Supporting involvement:
• Expectations of the PPI team set out clearly by the PI in the terms of reference: support development of the study protocol, information
sheets and ethics application; assist in developing topic guides and questionnaires to ensure the topics covered are important and relevant to
patients and families; develop strategies to troubleshoot any problems, e.g., with recruitment; assist in data analysis, in particular interpreting
how the findings may be of relevance to patients and families, and to support translating the findings into recommendations for practice for
clinicians and policy makers; and develop plain language summaries and support other effective methods of communicating findings to a wider
audience.
• The PPI team was integrated into the main advisory group which meets twice each year, but the initial meeting was limited to parent
members of the PPI team to build rapport, discuss the study and air questions and concerns. Parent participants were generally contacted by
phone after advisory group meetings to discuss the feedback that they did not feel able to share during the meeting.
• Meetings have been virtual, and ad hoc phone or email contact is made between meetings to ensure relationships are maintained.
• Plans are in place to deliver online training for those wanting to upskill (to be determined by the PPI team but could include data analysis,
writing and presenting)
Outcome
Positive impacts on PPI contributors and on the study:
• The feedback from parent participants during post-meeting phone calls is that they feel able to ask questions and participate in the
discussions about the study.
• The PPI team has reviewed and commented on study documents and provided input into which measures to include in a survey for parents
of children having WGS. As a result of their feedback, the survey includes a measure of parental health and family functioning which was seen as
an important outcome of testing.
• A number of the PPI team were co-authors on the published research protocol [38] and they will be invited to co-author further academic
publications from the project. There will also be the opportunity to co-present some of the research findings at conferences.
Limitations of PPI in this study:
• Two parent participants had to drop out due to other commitments. One has been replaced, but it would have been preferable to recruit
more participants at the start to allow for this possibility.
• It would have been beneficial to build training and support into the grant application to allow one of the parents to act as a lay co-researcher
on the team (“an expert by experience”), to access the parent interview transcripts and provide a counter-perspective to analysis by the social
scientist

The authors of the case studies have identified improvements that could have been made in their
approaches. There is scope for funders and academic institutions to take steps to further embed good
practices across genomic and other health service research. Concrete actions are important in themselves,
such as communicating clearly about what funders and academic institutions expect researchers to do,
signposting to existing PPI resources, and providing financial and practical support - but these steps are also
necessary if we are to create and sustain an academic culture where effective PPI is a given.

Table 6 provides the key recommendations identified by the authors for fellow investigators in health
service research, arising directly from the case studies presented.