The PPIE process itself was successful and viewed positively by participants, who all expressed a view that they would be interested in future PPIE work. The group started the process with a broadly positive view of the benefits of WGS for newborn screening, but the more they identified and developed their understanding of the potential harms, the more cautious many of the group became. This process of increasingly critical, or ambivalent, views being expressed as information and discussion increase has also been observed in other groups considering complex topics in the field of genomics and screening.175 In the final exercise, several expressed the view that a targeted approach to genomic screening may be preferable to high-throughput screens. This was not true of all of the groups, however, and some remained largely supportive of WGS despite potential risks or harms, seeing all forms of knowledge as useful. This divergence in opinions has been highlighted in the literature,176 where for some, non-actionable or uncertain results can be seen as empowering, whereas for others, concerns about risk and unnecessary anxiety and stigma were identified. Some parents of children with health conditions demonstrate a greater tolerance for uncertainty from screening because they are already experienced in medical uncertainty.176
The way in which conflicting perspectives on complex topics in genomics and screening should be prioritised and weighted in research outputs and policy decisions is a debated topic within acceptability research.177 Further research with collaborative PPIE engagement that can map such diverse views to social characteristics, backgrounds and/or particular lived experiences may prove particularly useful in facilitating a nuanced understanding of the distributions of harms and benefits of genomic screening to inform policy recommendations and implementation. For this reason, it would be beneficial to increase the diversity of viewpoints if this PPIE process was to be repeated. A limitation of our work was that the recruitment strategy did not target participants based on cultural diversity (although there was some), nor did it aim to be reflective of the UK population. This was not achievable, given the timescale. Future work should allocate more resources to recruitment and should recruit participants from outside of the rare disease community to achieve more representation from members of the public without the experience of living with rare conditions. This will be particularly important as most members of the public offered screening will have no, or limited, experience with rare genetic conditions. The group mentioned the potential for difficulty in recruiting members of the public where the relevance of the topic may not be immediately evident to them (especially, if they are not new or expectant parents) and the added time that would be needed to educate public participants on the complexities around genetic screening and diagnoses. Familiarity and factual knowledge around genomics among the public are low178 and so time would need to be invested in introducing key terms and concepts around genomics, sequencing and screening to enable meaningful contributions.179 When this is done, research has shown that previously ‘genetics agnostic’ members of the public can make substantial and rich contributions.180 Given the backgrounds of members of this group, and their existing familiarity with genetics, this step could be greatly condensed, but future PPIE work should accommodate additional time for information-sharing and the incremental building of knowledge and debate so that a common language for talking about genomic screening can be established.179 The group also mentioned the value of bringing in specialist contributors/viewpoints for particular topic areas, such as representatives from the insurance industry.
It is important to allow adequate time and consideration to the composition and recruitment of future PPI groups as well as time for new groups to build rapport and trust. It would also be valuable to allow time for the training of participants in PPIE in reviews and give them the resources to codevelop the aims, terms of reference and timetable for their contribution to the work (which was not possible in this rapid review setting). Finally, the importance of investing time and consideration into the development of materials, resources and viewpoints to share with the group ahead of discussions, in an accessible format, should not be underestimated. This is an essential component of creating a deliberative space to allow meaningful contribution and collaboration between the research team and PPIE contributors.