Co-Creating the Experience of Consent for Newborn Genome Sequencing: The Generation Study

Newborn screening (NBS) has proven to be a successful public health programme in many countries worldwide to detect treatable conditions early or before they present [1]. As genomic technologies improve and play an increasing role in healthcare, there is growing interest in the potential for whole genome sequencing (WGS) in the newborn period to support screening and wider research [2].

To explore this, Genomics England (GE), a company owned by the UK Department of Health and Social Care, is examining the benefits, risks, and broader implications of WGS in newborns. This will be carried out through the Generation Study (GS), a research study implemented in partnership with the National Health Service (NHS) in England, which will sequence the genomes of 100,000 newborns (IRAS #324562) [3, 4]. It aims to evaluate the utility and feasibility of using WGS to screen newborns for a larger number of rare conditions that can be treated in early childhood; enable wider research to support further discovery in genomics and health; and explore the potential of storing an individual’s genome over their lifetime to support their healthcare.

Recruitment started in the spring of 2024, following extensive consultation with the public, families affected by rare conditions, healthcare professionals, policymakers, and scientists [5]. Public views were sought from the start via a national public dialogue held in 2021, which highlighted key considerations including the importance of recognising the complexities of WGS when designing consent processes [6]. Further engagement activities have covered topics like setting principles for choosing which conditions to screen for, and exploring concerns of ethnic minorities [5].

If they choose to take part, parents consent for their baby’s genome to be analysed for specific variants of conditions with an early-childhood intervention available in the NHS, and for their baby’s de-identified genome and ongoing health data to be securely stored and used by approved healthcare researchers to evaluate the study in the longer term, and advance scientific and medical knowledge. Parents can withdraw their child from the study, and when the child is around 16 their independent consent for ongoing participation will be sought [4].

The GS incorporates complexities of consent in NBS, genomic medicine, and healthcare research. A key tenet of both clinical and research practice, consent aims to ensure that participants and patients are aware of foreseeable risks and uncertainties so that they can make a personal decision that aligns with their needs, wishes, and values. For consent to be valid, it must meet three criteria: provision of information about the study such as the procedure, purpose, risks and benefits; comprehension, or ensuring that the participant understands this information by providing it in a way that is appropriate for their capacities; and voluntariness, or emphasising that participation is free from coercion [7].

In England, NBS involves taking a few drops of blood from a baby’s heel days after birth, and tests for 9 rare conditions. After the sample has been used, it is stored for at least 5 years and made available for healthcare research [8]. Unlike in other countries where NBS is mandated, midwives must provide information to parents during pregnancy and obtain consent before taking the sample. Concerns have been raised about the validity of this consent: despite very high uptake (97% in England), parental awareness and knowledge are low, and there is lack of clarity around how informed decision-making can be feasibly achieved [9‒13]. Some parents have expressed that their initial lack of understanding added to their distress when receiving positive screening results [14, 15].

WGS also involves a range of complexities which create challenges for consent – results can have lifelong and familial implications, and knowledge of the clinical consequences of genomic variants can change over time. Moreover, genomic testing often includes long-term samples and data storage for research purposes [16]. Several studies have shown that patients tend to leave genomic consent conversations “relatively uninformed” or experiencing “information overload,” and experts have acknowledged that “designing material which is comprehensive and protects an organisation yet is readable is a challenge” [17‒20].

A breadth of work from recent international genomic newborn screening (gNBS) research programmes has contributed to understanding parents’ and the public’s general attitudes towards gNBS, and preferences for consent processes. To date, most of these studies gathered parents’ theoretical views on gNBS through survey methodologies [21‒29], but the complexity of the topic has led to discrepancies between survey results and actual uptake numbers [30]. Some studies retrospectively explored the factors that mattered most to parents who had made a decision about allowing gNBS, most using surveys [30‒32] as well as qualitative methodologies such as focus groups [33‒35] and dyadic interviews [36]. These studies help inform what information should be covered during gNBS consent but not how that information should be shared. This has been explored in the context of studies trialling the use of decision aids for gNBS [37‒39]; however, the use of a decision aid assumes an existing level of interest for parents-to-be to dedicate the time to engage with it. There remains a gap with regards to designing a full suite of materials intended to support parental awareness and decision-making to maximise implementation efforts, particularly with the aim of initially capturing the attention of parents who are not inherently interested in genomic or healthcare research. Addressing these gaps is crucial to enabling trust in population health programmes and bridging the implementation gap between research and clinical care.

As gNBS programmes are being developed, there is a need to create consent materials and processes which help a wide range of parents-to-be make informed decisions across a number of controversial, complex, value-based dimensions. Additionally, there is a responsibility to ensure gNBS programmes effectively engage a diverse population to address the issues of limited diversity in healthcare research [40] and in genomic databases [41]. Appropriate consent materials, processes, and training are crucial for successful implementation.

Involving users in the development of materials and processes has been shown to improve implementation of interventions in the healthcare context [42‒46] and beyond [47, 48]. Design Research (DR), a research and design methodology which involves users from scoping to iteration, has been a core tenet of the GS since its inception, including the co-creation of awareness and recruitment materials (posters, leaflets, GS introduction video, participant information sheet [PIS], consent form statements, website), and the consenting experience overall (e.g., training for staff who will take consent) [5]. Research was designed for the explicit purpose of developing a consent experience for the GS. This limits the transferability of the findings to initiatives with a different population and context; however, the methodology and consent framework may be applicable to other, similar large-scale research initiatives. This paper outlines the insights gained during 2 years of DR work, carried out to maximise parental informed decision-making and engagement of a diverse UK population, and describes how the GS team chose to address these across parent-facing materials and processes to support GS implementation.

During a 2-year period, the GS team conducted nine rounds of DR with expectant and recent parents (see Table 1 for a summary of each round). DR was the basis for the creation and improvement of consent materials and processes, among other elements of the GS.

The practice of DR facilitates a deep understanding of users’ needs, behaviours, and experiences, and engages them in the co-creation of user-friendly solutions. It usually involves conducting short rounds of qualitative or quantitative research, starting with inductive research (co-design), and progressing to deductive research (usability testing) – closely resembling the person-based approach [42]. The methodology for each round of DR was chosen based on the GS team’s needs and questions at that time. This empirical approach draws upon principles of human-computer interaction, cognitive psychology, and user-centred design principles [44]. It alternates between practice (research) and reflection (analysis) to cultivate practical knowledge that is grounded in reality and can be applied to real-life situations [46]. This, in turn, enhances the likelihood of successful implementation because users’ needs have been considered and embedded throughout the design phase [42‒45, 47, 48].

Recruitment for the nine rounds of DR was outsourced to an external agency specialised in reaching diverse audiences, using a range of advertisements on social media and pamphlets (Acumen Fieldwork). Each round of research consisted of 6–8 interviews, with the understanding that subsequent rounds would allow for continued exploration of additional themes. Sampling was conducted to ensure diverse participation within each round and across all rounds, with soft quotas set for each of the below categories to ensure one or more participants from each subgroup were included in each round, as much as possible driving inclusion of participants from groups usually under-represented in this type of research:

• Socio-demographics: age, ethnicity, gender, socio-economic grade, geography, urban/rural

• Family type: heterosexual, same-sex, and non-married couples, and single parents

• Stage of pregnancy/post-partum: typically between 4 weeks pregnant – 3 months postpartum

• Pregnancy type: natural, IVF, donated sperm/egg, primiparous/multiparous

• Other factors: religiousness, trust in the government/NHS, non-native English speakers

Participants were unfamiliar with GE and the GS. Interviews were framed as a general discussion about pregnancy and healthcare rather than specifically about genomics. This was done to reduce bias by gathering responses from a variety of parents regardless of their interest in gNBS and healthcare research. Each participant was involved in one round, limiting their ability to gain knowledge beyond what would be expected from a parent considering participation in the GS after launch. They were given a payment of GBP 60 per person as remuneration for their time.

8/9 DR rounds were conducted in dyads: one birthing parent and a person of their choice who helped them make health decisions during pregnancy. This included partners, co-parents, participants’ own parents, friends, and siblings. Their inclusion facilitated a more comfortable discussion and led participants to probe each other and maintain authenticity in their responses.

8/9 rounds were conducted online to facilitate nationwide representation. Considering the widespread use of digital technologies among target individuals (aged 16–45), this was not considered to skew the sample significantly. 1/9 round was conducted face-to-face to facilitate observation of participants interacting with printed materials. Participants were encouraged to participate in the interview in a realistic environment – they were usually at home, and often joined by newborns, toddlers, and other children.

All rounds were interview-based, lasted an average of 90 min, and were conducted by one of two experienced design researchers from GE. 1–2 other GS team members were usually present for notetaking. All were unknown to participants.

Semi-structured discussion guides were developed through consultation with the GS team. All rounds involved showing participants stimuli which they were encouraged to interact with as they normally would, offer criticism, and suggest changes. Stimuli were designed to elicit feedback and be iterated upon and included mock posters, leaflets, low- and high-fidelity videos, decision aids, and clickable website prototypes.

The initial 3 rounds of DR focussed on creative co-design work to explore consent models, how to talk about gNBS, and common misconceptions. Through methods such as co-creation workshops and participatory prototyping, co-design facilitated meaningful engagement and co-ownership of the design process by all relevant parties [43]. These insights helped the GS team establish communication principles and create initial consent materials.

Subsequent rounds shifted to tactical usability testing, an approach used to evaluate the effectiveness of a product or process by observing how users interact with it in a semi-controlled environment [44]. Using a combination of “Think-Aloud,” task completion, and interview methodologies [45], parents tested and critiqued GS materials, providing valuable insights into areas for improvement to reach the outcomes of engagement and informed decision-making. Our last round of DR involved participants receiving the GS PIS one week in advance, and then roleplaying a mock consent conversation with a clinical member of the GS team. Crucially and across all steps, DR relies not only on self-reported and verbalised feedback but also on observations from the design researchers around how users interact with materials and understand concepts.

All interviews were recorded and transcribed verbatim. Design researchers reviewed transcripts alongside notes taken by GS team members who attended the interviews.

For the first rounds of DR (co-design), an inductive analysis strategy was used: similar quotations were clustered around parents’ experiences of receiving information during pregnancy, what encouraged them to pay attention, and what shaped how they might view an invitation to a research study about genomic screening. Themes that emerged were encoded as “insights” using thematic content analysis after each round of DR and used to create or iterate stimulus [49].

Later rounds of DR (usability testing) relied on a deductive analysis strategy: at the start of each round, the team formulated hypotheses about how parents were expected to respond to stimuli based on previous DR. Existing insights informed the discussion guide and design researchers could probe if behaviour did not match previous findings. Interviews were analysed to validate or refute these hypotheses and provide recommendations for improvement or for further investigation. Some inductive analysis also took place if a new theme emerged: transcripts from past rounds of DR were reanalysed to identify instances of these themes, taking into account the context and specific stimuli which participants would have been responding to at the time.

In total, 105 individuals were interviewed across nine rounds of DR (Fig. 1 presents a breakdown of the socio-demographics of the 62 lead participants). Results are presented as a collective overview of the themes that emerged from insights over time and contribute to a conceptual framework that defines the process of consent across three stages: awareness, consideration, and making an informed decision (see Fig. 2).

Parents expressed experiencing information overload, particularly in the initial months of pregnancy. Their feedback included suggestions of when, where, and how they felt it would be best to first hear about the GS, including factors which had the power to captivate their attention or deter them immediately. These impressions, which can form within seconds and are frequently influenced by preconceptions and biases, were noted to affect parents’ willingness to take the time to learn more about the study. These have been reflected as barriers and enablers to embarking on the consent journey (see Table 2 for illustrative quotes).

• Using “genomics” or “genetics” too soon: these were unfamiliar and intimidating terms for most parents, especially those who lack personal or familial experience with genetic conditions. Almost all parents were unfamiliar with the word “genomics,” and many tended to associate it with dystopian science fiction.

• Science-related iconography and dark colours: parents were compelled by the health outcomes of the GS more than its cutting-edge technology. Standard GE branding includes helixes and imagery relating to the use of data, as well as dark and neon colours. Parents tended to associate all of these with technology and science fiction, making the GS feel alienating. Additionally, some parents reflected that darker colours are uncommon and alarming in a maternity setting.

• Beliefs about healthcare research: most parents were unfamiliar with the concept of healthcare research, and some mistakenly assumed it always involves dangerous invasive procedures, such as injecting or administering untested substances. The majority of these parents said they would discount an invitation to take part in healthcare research at the first glance but would be favourable to taking part in the GS once they understood the process.

• Expectation of cost: a common misconception among parents was that the GS would be a private and expensive intervention. This could be a deterrent, particularly for parents living in deprived areas and from lower socio-economic backgrounds. Conversely, a small number of parents expected they would be compensated for taking part.

• Not having time to deliberate: almost all parents said they would not feel comfortable making a decision when first approached, which would most likely lead to them declining. They needed time to find out more about the GS outside of the hospital context. This process involved researching additional details about the GS online and/or consulting trusted friends and family members.

• Focus on clear benefits: parents were hesitant to invest time and effort to learn more about the GS during pregnancy unless they could promptly grasp the possible benefits for their child, family, and/or community.

• Brand recognition was instrumental in helping pass parents’ attention filter. NHS Trust logos and other recognisable academic and non-profit logos suggested the study had been verified by trusted organisations and was worthy of consideration.

• Diverse family imagery had a positive impact on raising awareness – this included ethnic diversity as well as diversity of family types and structures. When photographs did not represent marginalised communities, some assumed they had not been meaningfully considered by the GS team. On the other hand, only representing marginalised communities made them question why they were being singled out, while alienating other groups.

• The ability to independently access further information was important to make the GS feel approachable. Many parents expressed feeling intimidated when receiving information and being expected to raise questions face-to-face with a healthcare professional. Many parents suggested that a visible cue to look into the GS in their own time and in an interactive way (e.g., a QR code) could help kick-start consideration.

• Most parents mentioned being proactively approached was a more reliable way to get their attention, especially if this was done by a trusted healthcare professional such as a midwife, obstetrician, or sonographer.

• Timing: prior to week 20, parents expressed dealing with a lot of information and uncertainty regarding their pregnancy, such as other screening, the possibility of miscarriage, and finding out the sex of the baby. The two months following week 20 were highlighted by many parents and maternity staff as a relatively quiet period where parents may have more time and attention to consider taking part. This also left enough time before the due date that parents were not yet consumed with getting ready for the imminent arrival of their baby.

Once they were aware of the GS, parents showed different levels and types of concerns, and varying propensity to research and read more. However, all shared common “Dealbreakers” that they needed answers to before further contemplating participation. Parents were most likely to look for these aspects first when engaging with the GS introduction video, leaflet, PIS, and website (see Table 3 for illustrative quotes).

• Risk of physical harm: many parents said they would not consider taking part if they found out the procedure was “too invasive,” meaning if there was a possibility of causing harm to their baby. This was more common among first-time parents, and particularly pronounced with parents who had experienced miscarriages, health concerns during pregnancy, and those who had gone through several rounds of IVF. Parents often discussed these fears by referring to previous decisions about antenatal screening, amniocenteses, or vaccination. Some individuals were concerned upon finding out that a heel prick may be required should cord blood not be taken, and sought assurance that they could revoke their decision to take part if this was required.

• Initial logistics: parents with young children, vulnerable parents, and those residing far from their maternity hospital considered it a significant obstacle if they were required to make additional hospital trips to provide consent or samples.

• Unclear risks and downsides: parents responded positively when risks were addressed upfront, soon after awareness. When they were not, parents tended to imagine worse outcomes and/or assumed risks had not been considered by the GS team.

• No mention of how it affects ethnic minorities: parents from ethnic minority backgrounds expressed a strong desire to be represented and explicitly addressed. This needed to be balanced out to avoid giving the impression that they were being singled out, or that the GS focuses solely on ethnic minorities. We workshopped several different ways to address this, and all were better received than not mentioning ethnic minorities at all.

• Ongoing level of involvement: some parents were worried about ongoing involvement, particularly if taking part in the GS meant needing to go somewhere with their child on a regular basis.

• Not seeing other parents taking part: some parents felt uncomfortable being the first taking part in something new. For some, this meant they would not consider healthcare research at all, while others expressed that seeing testimonials, case studies, or even hearing other parents’ questions in a webinar would put their minds at ease.

Since the first round of DR, parents told us they would like to see a “short” video about the GS before delving into more information. During the 2 years of DR, several videos introducing the GS were developed and tested. Early versions used a conventional structure (didactic about the GS); however, many parents expressed being put off by the “professional” tone. We then tested a narrative structure, featuring fictional parents raising the above Dealbreakers in a webinar (see final GS introduction video at www.genomicsengland.co.uk). This format was much more effective at keeping parents engaged for the duration of the video (around 4 min) as they reported their questions were asked as they thought of them. This helped parents gain a meaningful initial understanding of the GS, and most reflected they felt comfortable moving to the next steps of information-seeking or decision-making as appropriate for them.

DR showed that simply making information available to parents (e.g., in a PIS) did not necessarily lead them to feel and be informed about the GS. Below, we describe some implementation nuances which were uncovered during DR in how to make this information as efficient and impactful as possible (see Table 4 for illustrative quotes).

Some parents (“deep-divers”) were keen to delve into as much information as possible on one or more topics – for instance, which conditions are being screened for, why data are collected and what they can enable, how data are protected, how the study is funded, and who is involved. It was uncommon for any parent to be interested in exploring all subjects deeply – different individuals had different concerns and interests.

Other parents (“skimmers”) felt intimidated when presented with paragraphs of text. In those instances, they either lost interest in participating altogether or claimed to have read the text but demonstrated a lack of comprehension when asked to explain the study in their own words. Both behaviours hindered informed decision-making. This demonstrated that producing a detailed, lengthy PIS served the most engaged parents, but put off those with alternative learning styles, lower literacy, health literacy, or less fluent in English.

The PIS was re-written to be as accessible as possible. It was almost entirely written in active voice, using short sentences, and readability metrics show it can be read by a 12-year-old in 17 min. Additionally, visual design elements were tested to help parents quickly navigate the 13-page document, including bullet points, graphics, and visual cues such as coloured boxes. In the final DR round where parents reviewed the PIS independently, they responded positively to these changes, expressing they felt they could easily find and delve into the sections which were most important to their own decision.

Most parents expressed they would expect to access information online. In order to respond to this as well as to skimmers’ need for interactivity and deep-divers’ need for additional information, we developed a website which contains similar information to the PIS but in different formats. This included short videos (the GS introduction video, and a case study about the potential impact of genomic testing for a family involved in the 100,000 Genomes Project), as well as the list of conditions and other links about data protection. Parents responded positively to QR codes on printed materials and were able to easily navigate the website to find the areas most relevant to them.

We found that certain topics, such as the use of data by pharmaceutical companies, or the possibility of inconclusive results and delayed treatment, were difficult for parents to understand and engage in a more “traditional” format such as the PIS. In order to further help parents understand the nuances of the GS, a range of interactive “decision aids” were developed and tested, from quizzes about the GS and common misconceptions, to illustrated vignettes showing families going through scenarios illustrating contentious topics (e.g., use of data by pharmaceutical companies). Similar to the GS introduction video, we found that the illustrated vignettes using a narrative format were most successful in helping parents identify specific aspects of the GS they wished to explore further, and boosted their comprehension and, therefore, their confidence in the decision to participate or not.

Most parents felt that they would want some type of human interaction to ask questions and feel ready to make an informed decision – either one-to-one or as part of a larger group of parents such as a webinar format. However, when roleplaying the consent conversation, we noticed the exchange could become skewed to topics that parents asked about, to the detriment of other topics. This worked well for parents who had thoroughly read and understood materials and had specific concerns. However, it became apparent that in many cases, a lack of questions about a topic could conceal misunderstandings.

For instance, particularly in early rounds of DR, some parents expected results to be definitive, not appreciating GS results come with uncertainties inherent to screening and healthcare research. This misconception became apparent when parents were asked to explain the GS to their interview partner, rather than through the types of questions and concerns they proactively raised. Other common misconceptions included the concept of screening (vs. diagnostic test), whether samples would be taken during pregnancy, pharmaceutical companies’ use of data, or expectations of how much involvement is required from participants after receiving results.

The findings described above came out of co-creating and testing multiple prototypes made over a period of 2 years as the GS team uncovered parents’ needs and explored the most effective ways to address them. The GS team had to balance these against ethical, operational, and technical considerations. Below, we describe how findings have been addressed across the suite of materials and processes, and discuss the value of DR in offering a tangible path to informed decision-making. The materials and processes described below were approved by the Health Research Authority (HRA) and are in use in the first recruiting sites. The poster, leaflet, and consent form can be found as online supplementary Files 1–3 (for all online suppl. material, see https://doi.org/10.1159/000541935), and the website and PIS can be found at www.generationstudy.co.uk. Please note these will change over time as the GS team iterates them to meet emerging needs after launch.

The GS team created a poster and a leaflet which introduce the GS to parents. Following several iterations, below we describe how the launch version of the GS materials and processes implement the insights described in the Results section:

• Study Title

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    The study title helps set expectations. The word “generation” is used instead of acronyms and the terms “genome” and “genomics” to avoid alienating parents. The word “study” helps frame the opportunity as research, while minimising negative misconceptions around the invasiveness of medical research.

• Content

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    To catch parents' attention, the poster and leaflet use the tagline “Test your baby for 200+ genetic conditions” which focuses on the direct benefit to the family.

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    This statement is counterbalanced by text referring to the research aspect (“contribute to research that could lead to new treatments”). Together with the study title, this additional text sets up the mental model of healthcare research.

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    Participation is described as “free and optional” to ensure there is no misunderstanding about this being a mandatory or paid-for intervention.

• Visuals

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    GE branding guidelines were expanded to a softer colour palette more appropriate for the maternity context – a white background and the GE hot pink coupled with pastels (pink, blue, yellow, and green).

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    The design of the leaflet and poster allows for the simultaneous use of several photographs of parents with newborn babies, including various ethnicities and showing single parents as well as couples.

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    QR codes on the poster, leaflet, and PIS lead prospective participants to relevant pages of the GS website, signalling they can explore the GS in a more interactive way and in their own time.

Parents may notice the poster on the walls of their clinic, or in some instances, they may encounter the leaflet or the GS introduction video playing on the television screen in their waiting room. They can proactively let their local research team know they are interested in finding out more about the GS, or fill in a form on the GS website. To lower parents’ cognitive load, hospitals have been asked to aim to approach them around week 20 and book a consent conversation before week 36. The implementation of the active approach differs across hospitals based on local capabilities. For instance, a member of the parents’ maternity team may hand them a leaflet or mention the GS to them, or they may receive a notification or email from their hospital.

Recruitment materials mention Dealbreakers upfront to ward off assumptions and help parents move from awareness through to consideration and information-seeking behaviour. The poster and first page of the leaflet include information about giving consent during pregnancy and sample-taking happening after birth. The body of the leaflet adds that collecting the blood sample “should not hurt,” in line with NHS guidance, and includes a timeline of the different steps of taking part in the GS to clarify questions around logistics and ongoing participation.

Prospective participants visiting the GS website (e.g., via a QR code) see slightly different content on the landing page than on the poster and leaflet because they are presumably already aware of the GS (Fig. 3). Thus, the key challenge is no longer to catch their attention but to enable meaningful consideration. We chose to reinforce the mental model around research, making the benefit to the family secondary, but key Dealbreakers are still covered.

The GS introduction video also starts with a sentence referencing key Dealbreakers: “Baby Ali has just been born. Before leaving the hospital, an NHS practitioner takes a blood sample from the umbilical cord for a new research study.” The video goes on to tackle all Dealbreakers within 4 min. Following a co-creation workshop and several rounds of testing, ethnic minorities are addressed in a way that is specific and acknowledges the lack of representation of certain ethnicities in genomic research, as well as the aim to change this going forward:

• [Question from parent] “From what I know, medical research like this usually only helps certain ethnicities. How would having my baby in the study help?”

• [Answer from GS] “People from all backgrounds are welcome to join this study but people from Black, Asian, and minority ethnic communities are under-represented in this kind of research. Taking part could make the study more diverse and help improve genetic testing for everyone in the future.”

The topics that parents are interested in to help them make an informed decision about taking part have been well documented [2, 6, 30, 31, 33, 34, 36]. However, few papers have discussed how these recommendations should be implemented considering real-life constraints both on the side of healthcare practitioners and on the side of overloaded parents. To accommodate different information needs and learning styles, GS materials are designed for “skimmers” (who get turned off when shown blocks of text) while including signposting for “deep-divers” (who want to delve into specific topics). This in turn benefits all parents, allowing everyone to gain a basic overview of the GS relatively quickly and pinpoint areas for further exploration.

Narratives can, in certain contexts, be a powerful way to engage individuals in healthcare-related decision-making [50]. As well as videos, the website includes colourful boxes called “Keep in mind” which utilise storytelling to help parents consider difficult concepts, such as how pharmaceutical companies may use their baby’s data to help develop new treatments, or receiving uncertain results when the baby is asymptomatic. While narratives have been proven to increase comprehension and reduce misunderstandings, there is a significant risk that such materials could persuade or bias parents into a specific decision, or introduce emotions which may sway a parent’s assessment of risks and benefits [51]. We have aimed to reduce the likelihood of this by keeping language as neutral as possible, and have observed parents becoming both more and less positive about GS participation following their interaction with these materials. We will continue to gather feedback from parents to understand the impact of the different types of narratives offered on the GS website.

When parents feel ready to sign up or if they would like to ask more questions, they can contact research staff or log their interest via the website, responding to the need for human interaction. Research staff organise a meeting which can happen face-to-face or over a phone or video call, eliminating the need for travel and enabling attendance from both parents even if they are in separate locations.

Research staff rely on their experience and knowledge to lead a thorough and engaging consent conversation and ensure parents understand and are comfortable with the main elements of the GS. As we know parents often come to the consent conversation with misconceptions that may be difficult to identify, we have developed several strategies to support research staff navigate this moment as efficiently as possible:

• The PIS, Consent Conversation Checklist, and Consent Form all cover the same topics and follow the same structure. This ensures that no element goes undiscussed, and parents are easily able to navigate to the part of the PIS which they are currently discussing with the research staff member.

• Prospective participants can download the Consent Form on the GS website to read through it ahead of time or have it open during the consent conversation.

• Research staff are provided with a “Consent Conversation Checklist” which guides them through the full consent conversation. It provides key messages as well as links to more information should they be asked questions by parents. It is a Word document in which they can take notes if needed.

• Research staff are given a set of “Informed Choice Cards” to support their training. These highlight common misconceptions and behaviours which were noted during DR and may hinder informed decision-making, alongside suggestions on how to approach them.

We have made every effort to make the website accessible by following the internationally recognised WCAG 2.2 level AA guidelines for improving website accessibility [52]. The website supports browser zooming so that it can be navigated by parents who use screen readers and can be translated using standard browser features, broadening the accessibility of GS materials.

The PIS, poster, and consent form will also be made available in the 10 languages most spoken at the hospitals where the GS will initially take place. For consent conversations, research staff have access to Language Line, an interpreter service.

This paper outlines the value of DR, and more broadly of creative, multidisciplinary approaches in tackling the urgent issue of how informed decision-making is facilitated in the complex contexts of screening, healthcare research, and genomics. Involving parents in the co-creation of consent materials and processes has broadened the GS team’s perspective of what constitutes informed decision-making to include ensuring materials are designed so as not to discourage parents from finding out more about the study due to existing misconceptions. Disregarding these factors may mean parents who do not participate do so not as a result of informed decision-making, but because we failed to engage and provide them with appropriate materials and experiences to support their choice. This work also charts a tangible path in how to develop a consent experience and suite of materials which respect individuals’ autonomy, and implements a tiered and layered approach to information provision as recommended by previous studies [34, 53].

Public involvement is not a novel approach in the design of healthcare experiences, where a range of methodologies have been applied [42‒46]. Like the person-based approach [42], DR aims to move beyond acceptability and satisfaction to create interventions which are “motivating, enjoyable, informative, convincing, and most importantly […] change behaviour and/or enhance well-being.” DR’s short and regular rounds are a lean way to create and improve materials and processes rapidly. They formed the basis for our evolving understanding of how to support informed decision-making. DR makes tangible but context-specific recommendations due to its focus on the creation and iteration of materials. These are not only tested for their own improvement, but as a way to develop insights which can be applied across the suite of materials, and tested again. Knowledge was built and redefined reflexively and over time, leading to end-products that are truly co-created and more likely to be successfully implemented.

Another similarity with the person-based approach is the use of a variety of methodologies as appropriate, depending on the stage of design and questions the team are exploring. The results described in this paper were contextualised within a number of other activities which were run in parallel. At the start of the project, we commissioned a 3-month long “ethnography” project involving 60 families to deeply understand the variety of parents’ experiences during and after pregnancy, including their understanding of screening and healthcare research. Later, we partnered with the Motherhood Group who ran a co-design workshop with Black and Mixed Black mothers to explore barriers and enablers to participation specific to these communities. Throughout, our DR work was guided by a working group which included parent and patient representatives and NHS staff with maternity, genomics, and research expertise. NHS maternity staff were also heavily involved in the design of consent pathways, especially as they relate to implementation within their own hospitals. All of these inputs were considered in parallel to develop an understanding of what constitutes “good” consent in practice.

Because of its iterative and rapid nature, the results of DR cannot purport to be as rigorous as scientific research methodologies. Participants interacted with different materials depending on when they were interviewed, and analysis was performed without the use of professional software. More broadly, many have argued for the urgent need for formal evaluation of the outcomes of public involvement methodologies [54]. The GS team will continue to assess and refine consent materials as the study launches and progresses. GS participants will be asked to complete a survey asking them about their experience of joining the study, and an external partner will conduct a formal evaluation, including interviews with consenting staff and GS participants. These insights will help assess the validity of the concepts and frameworks developed to date, and further DR will be conducted to improve our approach to informed decision-making.

The authors would like to thank all of the participants who agreed to share their insights and creativity as part of the co-design sessions. We would like to acknowledge the work of all designers and clinical content developers on the Generation Study team involved in the development and iteration of materials and processes. We would also like to acknowledge the involvement and guidance received from the Recruitment Working Group, which involved patient and parent representatives as well as maternity staff, as well as the contribution of the Motherhood Group and Sandra Igwe who hosted a workshop with Black mothers and provided invaluable expertise.

Ethical approval was not required for this study in accordance with UK Health Research Authority “Defining Research” guidelines as this work falls under service improvement/development. Findings were not intended to be transferable beyond the Generation Study. Findings contributed to the protocol for the Generation Study, IRAS No. 342562. All participants were presented with a consent form prior to the session which was then reviewed at the start of each session. Participants gave their written consent following the interview to authorise the processing of the data they shared.

All authors are employees of Genomics England, the organisation responsible for delivering the Generation Study.

The study was funded by Genomics England Limited, which will also be carrying out the Generation Study. The Generation Study is funded by the UK Department of Health and Social Care.

M.L. led and planned design research activities, carried out primary research and analysis, and drafted the manuscript. M.G. carried out primary research and analysis, drafted the tables and some of the Methods part of the manuscript, and provided comments on the manuscript. J.R. contributed to the design of the stimulus used in primary research from a clinical perspective and provided comments on the manuscript. H.E. offered ethics guidance for primary research and provided comments on the manuscript. N.W. and Ö.Ö. oversaw the planning of design research activities and provided comments on the manuscript. A.P. was responsible for coordinating the creation and iteration of stimuli, provided clinical knowledge, and supported in editing of the manuscript.

The data that support the findings in this study are not publicly available due to their containing personal and health information about research participants. Consent did not include the release of transcripts beyond the Generation Study team. Illustrative quotations can be found in the supplementary materials files. Further enquiries can be directed to the corresponding author.