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3. A PPI Advisory Group was established with representatives of parent organistations and an individual member with relevant experience
Process
Recruitment:
• ARC provided guidance on appropriate recruitment of parents to the study PPI: the group’s members include representatives from a number
of parent and patient support organisations, and a researcher who has personal experience in prenatal testing and bereavement.
Supporting involvement:
• The group has been asked to focus on the qualitative arm that is investigating parents’ views and experiences of prenatal exome sequencing,
and the ethics workstream that aims to explore associated ethical issues.
• The group meets quarterly and members are paid for their time.
• One of the researchers is embedded at ARC and received training to work on the charity’s helpline to gain an in-depth understanding of what
parents face when making decisions around testing, diagnosis and termination of pregnancy
Outcomes
Positive impacts on PPI contributors and on the study:
• Including patient group representatives as co-applicants ensured that they helped inform the overall study design.
• The PPI group gave feedback on interview topics and questions, recruitment methods, the design of multiple formats of patient information,
and the creation of a newsletter about the research for patients to make sure they are clear and inclusive.
• The PPI group gave feedback on themes arising during interview analysis to inform interpretation and are co-authors on the published
research protocol [44] .
• Embedding the researcher at ARC allowed them to fully focus on parents’ experiences and provide an active link between the research team
and the patient organisation, which in turn helps the wider research team to maintain a focus on parent priorities.
Limitations of PPI in this study:
• English-speaking white middle-class participants are overrepresented at the time of writing. PPI involvement in designing a specific budget
and plan for targeted methods of recruitment, e.g., using community groups, may have helped us reach potential participants from
underrepresented demographics

Table 4. Case study 4 - reflections on PPI structure, process and outcome
PPI in “genomics england newborn genomes programme”
Structure
Research aim:
• Genomics England’s Newborn Genomes Programme will launch in 2023 and is a co-designed research study, i.e., it develops the PPI
approach such that patients and public partners actively influence decision-making in the project design and operation. The programme will
explore the benefits, challenges, and practicalities of sequencing newborns’ genomes [33] . An in-depth and early phase of consultation with
stakeholders as part of the research design has been carried out to focus on how to “choose conditions”, i.e., determining which rare genetic
conditions, out of the many potential options, should be looked for as part of the study. A six-month process was designed to establish a set of
underpinning principles.
Note: This case study illustrates an approach to PPI that is “modular” - in addition to integrating PPI advisors for the lifetime of a project
(drawing on the long-standing Genomics England Participant Panel - a key advisory group for Genomics England consisting of patients, family
[46]
members and carers who have had genome sequencing) , the scale of this work requires additional consultation with distinct (and relatively
large) groups of people at discrete stages of the study as part of the co-design.
As there are over 6000 known rare conditions with varying levels of impact on health and quality of life, it was important to capture as wide a
range of views as possible. It was also critical to include the perspectives of those who do not have experience in rare conditions, as most babies
who take part in the study will not receive a positive result
Process
• First, a working group was established comprising healthcare professionals, scientists, ethics and policy researchers, and representatives
from patient groups and the public. A member of Genomic England’s standing Participant Panel was included.
• Principles were proposed by the group, then tested at online workshops with members of the public, people with experience in rare
conditions, and healthcare professionals. Each principle was debated in order to capture participants’ concerns and interests.
• A series of explanatory materials, including presentations and videos, was generated to support workshop participants, and a member of the
programme team was available to answer questions at each workshop.
• Deliberations were led by expert facilitators from a public participation charity [47] . The Participant Panel at Genomics England was also
consulted about the principles in an additional session
Outcome
Benefits of PPI in this study:
• Four final principles emerged from the workshops, which will underpin the design of the programme. They relate to validity of the test,
severity of the condition, benefits of intervention and equity of access to interventions (e.g., through the UK’s NHS) [33] .
• Carrying out these workshops early in the programme means that participants’ diverse views are integral to the design phase of the work.
Limitations of PPI in this study:
• PPI endeavours correspond to a moment in time with a wide variety of participants who might all have different views. When making
decisions such as which conditions will be looked for in this research study, it is difficult to achieve consensus, and inevitably it is impossible to
incorporate some individuals’ views. For this reason, decisions that incorporated PPI input should be revisited in light of changing practices. This
revisiting is something that the Newborn Genomes Programme is committed to throughout the duration of its study