Page 28 - Read Online

Page 22 Hunter et al. J Transl Genet Genom 2023;7:17-26 https://dx.doi.org/10.20517/jtgg.2022.19

Keywords: PPI, patient involvement, genome sequencing, health service research

INTRODUCTION
“Public and patient involvement” or PPI, is becoming an established feature of health research in the UK.
For example, it is mentioned in 12 of the 33 articles published in 2022 by the National Institute for Health
Research (NIHR) . It is the practice of working in partnership with people who have life experience
[1]
relevant to the research - enabling them to inform, influence and actively collaborate in research - and is
distinct from recruiting study participants and from “engagement”, which focuses on disseminating
[2]
findings outside academic journals and conferences . Efforts have been made to produce frameworks that
capture the variety of strategies developed for effective PPI, activities that PPI participants can undertake,
and principles to optimise outcomes . Discussion in the literature is expanding into standardised
[3-6]
reporting of PPI and the finer points of representation on PPI advisory boards by inviting individuals with
and without some level of research experience .
[7,8]
Two key motivators behind the growth in PPI activity are the ethical and democratic imperative of giving
the ultimate beneficiaries of research an opportunity to influence its direction, and the related argument
that it can improve research and service development outcomes and relevance. These arguments apply
along the pipeline from basic to clinical and translational research, although the benefits arising from PPI
[9]
for laboratory research may be less tangible . Translating new knowledge into clinical services, however,
requires an understanding of a wide range of potential impacts on the users of the services and their
families, including those that researchers might not anticipate. It is perhaps easier to comprehend the
impact that involving PPI contributors can have on research that aims to design and evaluate new clinical
services.

The growing body of literature about measuring the impacts of PPI includes a focus on clinical trials and
[10]
on those involved in research themselves , although the value of quantitative metrics and whether
[11]
measuring impact per se is the most useful way forward are still debated issues [12,13] .

The growing evidence around the practice and outcomes of PPI has gone hand in hand with the
development of resources by UK-based organisations which aim to support researchers in establishing
meaningful PPI. These take the form of national standards, sets of principles, guidelines and toolkits [14-17]
developed through consultation and consensus building exercises, plus mechanisms to link interested
participants and researchers with each other [18,19] . Standards and principles focus variously on deciding who
to involve and how to involve and support PPI members, good communication and documenting PPI
processes and impact. Major UK health research funding organisations now encourage or even require PPI
planning to form part of applications for funds [20-24] .

In the arena of genomics, the UK continues to be a significant actor in the development of the technology
and its application in health services. Large-scale projects such as the UK Biobank, the NIHR BioResource
and the 100,000 Genomes Project have generated vast numbers of highly cited publications, and the latter
led directly to the establishment of the new Genomic Medicine Service (GMS) in the NHS [25-30] . The GMS
aims to promote equity of provision and includes new testing services, such as rapid turnaround
exome/genome sequencing for fetal anomalies and for seriously ill children who are in hospital without a
diagnosis [31,32] . Still at the research stage but embedded within the NHS is the Newborn Genomes
Programme which will evaluate the application of genome sequencing for newborns, its impact on the NHS
and the risks and benefits for individuals and families .
[33]