Page 31 - Read Online

Hunter et al. J Transl Genet Genom 2023;7:17-26 https://dx.doi.org/10.20517/jtgg.2022.19 Page 25

Table 2. Case study 2 - reflections on PPI structure, process and outcome
PPI in “evaluation of rapid genomic sequencing for critically ill children (rGS Study)”
Structure
Research aim:
• Rapid genomic testing can offer faster diagnoses and much earlier decisions about care for babies and children when they are critically ill and
[42]
a monogenic condition is suspected . This mixed-methods study is looking at the delivery of this test in the NHS from the perspective of
[39]
parents and professionals to facilitate optimal care and support for children and their parents .
PPI team:
• There are four arms to the PPI Team.
○ 1. Two of the co-applicants are from patient organisations (Genetic Alliance UK and Alstrom Syndrome UK) [39,43] and sit in the research
team, bringing experience with a range of research projects and in setting up PPI advisory groups, and a broad perspective on rare disease. The
Genetic Alliance UK representative leads on the PPI elements of the evaluation.
○ 2. There is a social science researcher based at a patient organisation (Genetic Alliance UK).
○ 3. A PPI Advisory Group with patient organisation representatives and individual parents. The individual parents offer their lived
experience of having a child who was cared for in intensive care and/or offered exome or genome sequencing.
○ 4. A representative of a patient organisation, who is not part of the PPI Advisory Group, sits on the main study steering group alongside
clinicians and researchers to bring a patient voice to those meetings
Process
Recruitment for the PPI Advisory Group:
• Parent members (of children with a developmental disorder, or a suspected/diagnosed rare condition) were recruited through
advertisements and completed a short application form to allow for selection based on diversity as well as experience in genome sequencing
and/or neonatal or paediatric intensive care. A father was recruited after additional calls were made through support groups for fathers, and a
mother with South Asian heritage was recruited by invitation. Five parents in total were recruited.
• Relevant patient organisations were approached and invited to suggest a representative who could join the PPI advisory group.
Supporting involvement:
• PPI members of the core research team have contributed to funding applications, study design and development from the outset.
• Because of the sensitive nature of the topic area, and to help members feel comfortable sharing their experiences, a separate PPI advisory
group was set up rather than only including PPI members within the wider study advisory group (including researchers and clinicians).
• The PPI Advisory Group meets on an ad hoc basis when feedback is needed. Members are paid for their time.
• One of the social science researchers is based at Genetic Alliance UK to further strengthen the links between PPI input and research
processes
Outcome
Positive impacts on PPI contributors and on the study:
• PPI input into study materials and recruitment planning is particularly important for this research due to (1) the sensitive nature of the
planned interviews with parents whose child has been very unwell or may have died; and (2) the need to consider diversity in the study when
exploring parent experiences and equity of access to testing.
• The PPI advisory group has given detailed feedback on the wording and images for an online parents’ survey and the participant information
sheets. The diverse experiences of the group have been especially helpful in alerting the researchers to wording that can impact, for example,
bereaved parents, those not biologically related to their child and same-sex couples.
• The group has helped find meaning in the survey results and given advice on topics to include in the parent interviews. They will be invited to
give feedback on themes and quotes from the interview analyses to inform interpretation.
• In the future, it is hoped that this group will help with the preparation of publications and the development of recommendations for practice
that are focused on parent and patient priorities and needs.
• Having PPI co-applicants ensured PPI input from the initial design of the study, and informed budget decisions such as funding for translation
of study materials and options for other formats such as audio and video. They are part of the research team, which means that there is iterative
feedback between the PPI and research teams throughout the study.
Limitations of PPI in this study:
• Within the PPI advisory group, it was not possible to find representatives of all parent experiences that are relevant to the study. For example,
very few fathers put themselves forward to be involved.
• The researchers tend to direct the PPI input, setting the meeting agenda, setting questions and drafting materials for comment. It may be
helpful to be less prescriptive and allow the PPI input to be more iterative and open

Table 3. Case study 3 - reflections on PPI structure, process and outcome
PPI in “optimising exome prenatal sequencing services (EXPRESS study)”
Structure
Research aim:
• EXPRESS is a mixed-methods research project studying the roll-out of prenatal exome sequencing as part of the NHS Genomic Medicine
Service [44] . Prenatal exome sequencing is offered when ultrasound scans show a baby is not developing as expected and doctors suspect a
monogenic condition. Expectant parents who are offered the test will have been faced with uncertain scan findings and will then be asked to
make decisions about further testing and the future management of their pregnancy. They may be offered the option to terminate their
pregnancy.
PPI Team:
• There are three arms to the PPI Team.
1. Two funding co-applicants and core members of the research team are from the patient organisations (Alstrom Syndrome UK and
Antenatal Results and Choices (ARC)) [43,45] . The Director of ARC leads the PPI elements of the research.
2. There is a social science researcher based at a patient organisation (ARC).