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Table 5. Case study 5 - reflections on PPI structure, process and outcome
PPI in “The secondary cardiac findings evaluation (SCARFE) study”
Structure
Research aim:
• The SCARFE study was developed to understand the benefits and risks of informing people about a secondary genomic finding, specifically in
[48]
an inherited heart condition . Secondary findings are genomic changes that are not related to a patient’s known health condition but might
[49]
indicate a risk of a separate serious condition . It is not yet clear whether looking for secondary findings is beneficial. For example, informing a
patient about a secondary finding might enable healthcare actions that would detect a health condition early, allowing medical intervention - but
being told about a secondary finding might cause people long-term anxiety, and if the risk of disease development is very low, people might
undergo tests and treatment they do not need. Inherited heart conditions are a group of disorders that can occasionally lead to sudden cardiac
death; if people are genetically at risk because they carry a variant associated with an inherited heart condition, screening tests such as
echocardiogram and ECG can identify people whose hearts are affected, and measures can be taken to manage their risk
Process
Recruitment:
As a new area of study with the potential to inform people about a serious health risk, it was important to involve patients and the public from
the outset. PPI members were recruited from an existing Genomics PPI group based in Oxford, including people who had a rare disease or
cancer, and their relatives and carers.
Supporting involvement:
• The research team presented the study aims to the PPI participants, and invited questions and discussion during an informal round-table; all
PPI participants were encouraged to voice opinions
Outcome
Benefits of PPI to this study:
[27]
• A key question was how best to contact participants eligible for the study from the NIHR BioResource Rare Disease Study (who had
agreed to be contacted about future studies). Potential participants would need enough information to make a decision about taking part in
SCARFE without causing alarm or breaching their right not to know unexpected genomic information. Through discussion with the PPI group, the
research team was prompted to explore the use of a pre-invitation opt-out letter that would be sent to all BioResource participants.
• The resulting letter was based on other stakeholders’ deliberation [50] and advised BioResource participants that if they did not wish to be
contacted about studies which might tell them about their risk of other health conditions, they could decline the approach
[Supplementary Material]. The PPI group was invited to review the document, and the opt-out process was included in the SCARFE protocol
submitted for research ethics committee approval

Table 6. Key recommendations for PPI in health service research
Planning
• Researchers should keep in mind that PPI in health research is an active collaboration and two-way process for mutual benefit. PPI teams
should find the experience both enjoyable and rewarding, and their impact/influence should be made clear to the whole study team, including
the PPI contributors.
• Plan for early training opportunities to ensure PPI contributors feel comfortable with technical aspects of the research, and for the research
team to learn about lived experiences.
• Perform evaluation from the start of the project: what approaches could be used to evaluate the benefit to the PPI contributors, the research
team and the study itself? Document and share learnings.
• It is helpful both for PPI participants and researchers to set out clear criteria for membership of the PPI group or for PPI members of a study
advisory group, along with a clear outline of what is being asked of them and how the group will operate - everyone should be assured that
meetings are interactive with an emphasis on the ability to ask questions and on listening and respecting all views.
• To facilitate effective planning for PPI, include people with PPI expertise as co-applicants on the initial funding application and include a
budget for PPI activities. To improve diversity and representation from underserved groups, a budget is also needed to support targeted methods
of recruitment to advisory groups, e.g., through community groups.
• Where possible, embed researchers in patient/parent support organisations to gain in-depth experience of the research context. This is
particularly valuable when doing research on sensitive topics, for example, prenatal testing or seriously ill children
Recruitment
• Consider involving both individuals with lived experience (not necessarily patients) and representatives of patient groups. The latter can
bring a broad perspective that complements individuals’ experiences, and access to networks of affected individuals. If patient group
representatives have experience in academic research, they may be able to advise on what PPI can bring to a study, what is involved in setting up
a PPI advisory group within the processes and constraints of research, and what worked and what did not in previous projects. In addition, they
may be well placed to support PPI members of advisory groups new to research.
• Researchers and patient organisations can build close relationships over time - this, plus the “small world” nature of rare conditions, means
that the same people are often invited to take part in PPI for multiple studies. The case studies presented illustrate this. Researchers should
always consider which are the most relevant organisations that could contribute (and which staff), and whether “new” organisations could be
approached in order to optimise the independent perspective that PPI can bring.
Think about the size of the PPI advisory group: there is no one “patient voice”, so the group should be large enough to represent a suitable
diversity of opinion and experience but small enough to allow full and open discussions. Plan meetings according to the needs of the PPI
participants: many find remote meetings convenient, but face-to-face meetings can build rapport. Consider informal settings and what practical
support might be needed for face-to-face meetings
Involvement
• Involve PPI participants as far as possible in all stages of the study, from planning the grant application to interpreting findings (not just at the
manuscript review stage) to helping develop recommendations for practice. Early consultation with PPI participants will facilitate consideration
of the ethical and practical issues that studies can raise, and will improve protocol development.