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Hunter et al. J Transl Genet Genom 2023;7:17-26 https://dx.doi.org/10.20517/jtgg.2022.19 Page 23

APPLIED GENOMICS AND MEANINGFUL PPI
The culture of a positive approach to PPI among health researchers, and the mature ethical, legal and social
research community in the UK, have facilitated the adoption of PPI within the evaluation of proposed and
live pilot genomics services. In many ways, the core principles of good PPI apply as with any other health
research - but there are potential conflicts between social and scientific perspectives of genomics, and
particular issues for patients such as the benefits and risks of knowing certain types of genomic information,
such as variants of unknown significance and secondary findings, which means a particularly attentive
approach to PPI is warranted [34,35] . PPI strategies that include a focus on underserved populations are also an
important part of helping to address the issue of a lack of diversity among the participants in genomics
research to date [36,37] .

This article describes recent and current PPI case studies [Tables 1-5] from research focused on delivery of
genomics in the NHS, and what lessons can be learned. The case studies are presented following
Donabedian’s three components approach, originally designed for evaluating the quality of care . The
[51]
components are: structure (attributes of the case study), process (the systems and processes adopted to
deliver the desired outcome) and outcome (impact on the project, researchers, and PPI participants
themselves).

PPI in the evaluation of new genomics services [Tables 1-3]

PPI in new applications of genomics [Tables 4 and 5]

CONCLUSION
The five case studies presented illustrate that PPI can bring significant and beneficial influence to research
that addresses sensitive and ethically-challenging topics in genomics service development. The case studies
point to PPI advisors directly impacting study protocols, budgets and materials, refining recruitment
approaches for parents who may be bereaved or traumatized and improving diversity, and giving invaluable
contextual information to support the interpretation of findings. Integrating PPI contributors in this way
has provided invaluable insight to the research teams, which should also benefit their future research work.

Some limits to the benefits of PPI can be directly linked to the existence of barriers or the lack of enablers,
[52]
which can reduce the effectiveness of PPI activities undertaken by researchers . The case studies explore a
range of both organisational enablers (such as resourcing and training) and those at a personal level (such as
a collaborative approach that involves PPI contributors at every stage, with clarity around roles and
expectations). Further, greater awareness of the imbalances of power inherent in the way PPI partnerships
are established could lead to better quality outcomes. For example, we recognise in our case studies the
tendency for researchers to set meeting agendas and make decisions about how PPI contributors will
engage, and that a more flexible collaborative approach, such as inviting PPI contributors to lead PPI
groups, can be very valuable. Our case studies also clearly illustrate challenges in achieving equality and
diversity in recruitment and involvement -careful planning and resourcing, and early consultation with
patient or community groups, are important to address this. Finally, long-term partnerships with
individuals over the course of several studies might lead to a narrowing of the viewpoints being offered -
conversely, PPI teams will always be too small to be representative of the study population, and their input
must be sought and valued in that context.