Introduction‘All screening programmes do harm; some do good as well, and, of these, some do more good than harm at reasonable cost’. [1]Although most babies are born well, 1 in 17 people will develop a rare disease in their lifetime, with 75% of these developing in childhood [2]. Approximately 80% of these have a genetic aetiology [3]. Although these genetic conditions are considered rare individually, they are collectively common and have significant health and economic implications. Newborn screening programmes (NBS) [4] aim to identify rare conditions that are treatable in childhood [5]. They are widely recognised as a public health success, delivered at scale, at relatively low cost, and with rapid turnaround times [5]. Early detection of treatable conditions can improve the newborn’s long-term health and development as well as prevent severe disability and, in some cases, premature death [6, 7]. Using biochemical assays on dried blood spots collected at five days of life, NBS screens for a variable number of conditions depending on the country [8].Advances in genomic research and therapeutic strategies mean that many more rare genetic diseases could be identified than those detected via current NBS (cNBS) [9]. National projects, such as the UK’s 100,000 Genomes Project, demonstrate that whole genome sequencing (WGS) is scalable and provides timely diagnoses [10]. Since 2022, the NHS in England has offered WGS to acutely unwell children with suspected monogenic disorders [11]. However, in many cases, diagnosis occurs too late for effective intervention. Recognising the potential of WGS for NBS, a 2022 UK task force recommended a large-scale research programme to assess feasibility, ethics, and public attitudes [12]. This led to the ‘Generation Study’, which aims to sequence 100,000 newborns via NBS for over 200 conditions [13]. It will be the largest investigation of genomic newborn screening (gNBS) within a national health system, with the potential to inform policy and clinical practice in the UK and wider field.Several countries are considering introducing gNBS [14,15,16] and gNBS is named as a major element of the UK’s 10-year health plan [17]. The implementation of gNBS raises complex ethical, social, and operational questions, including the long-term use of genomic data [9, 18]. Understanding public and parental views is critical to inform future policy, optimise uptake, and mitigate potential harms. One of the most important elements of reducing harm is ensuring public trust which is essential for the success of any screening [19, 20] or genomic programme [21]. Trust in NBS can be lost when parents become aware of information after they have participated underscoring the importance of pre-screening information [22]. Effective communication relies on understanding what beliefs and understanding people bring to the situation, which could act as barriers [23], lead to misunderstandings [24] and where the gaps are. Existing reviews show gNBS uptake/potential uptake is lower than cNBS and explored who and how many people are likely to engage and their perceptions of benefits and harms [25]. That review highlighted the need for qualitative research to understand this complex area [25]. This systematic review collates and evaluates global qualitative evidence on public and parental perspectives of gNBS to guide service design by exploring how the perceived benefits and harms could act as barriers or enablers for engagement. This will inform policy development and help to determine the support parents need for informed decision-making and engagement.MethodsSearch strategy and eligibility criteriaThe following electronic databases were searched up to the 20th of April 2026: PubMed, MEDLINE (Ovid), EMBASE (Ovid), APA PsychINFO (Ovid), and Web of Science (Clarivate) by RS. The year of publication was not restricted. Search terms were developed by RS and FU using the SPIDER tool [26]. Terms and combinations can be seen in Table 1.Table 1 SPIDER search terms used for literature search.Full size tableIdentified references were exported into EndNote [27], and duplicate articles were removed. The remaining articles were manually assessed for eligibility by RS (Table 2) in accordance with PRISMA guidance [28]. Titles and abstracts were screened against inclusion and exclusion criteria. The process was repeated for full-text articles. An independent researcher screened 10% of articles for inclusion, with any discrepancies discussed until agreement. Included articles were additionally reviewed for eligible citations and references. This process was conducted by RS with regular supervision by FU.Table 2 Eligibility criteria used for papers.Full size tableQuality appraisalIncluded studies were assessed for quality by RS using a subjectivist epistemology checklist-based system [29] used previously to assess qualitative research in the field [30]. Although this checklist was not used to determine inclusion of papers, it enabled the identification of significant issues likely to affect the credibility, transferability, dependability, or confirmability of the study [31], which were then considered when interpreting findings. This appraisal was supervised by FU.Data extractionStudy key characteristics from results sections of papers related to authors, publication year, data collection, data analysis, country and participant information were extracted (Table 3).Table. 3 Main characteristics of included papers.Full size tableSynthesisReflective thematic analysis (RTA) was conducted following Braun and Clarke’s six phase framework to identify patterns within the extracted data [32]. An essentialist orientation was adopted, assuming participants’ language reflected an objective reality. Coding was carried out inductively at the manifest level, focusing on the explicit meaning of words in the dataset, rather than inferring meanings. This form was chosen as the paper’s focus was on policy and practice implications. The analysis was conducted by RS with supervision from FU, including discussing the groupings of patterns, creation and naming of themes and narrative development.Reflexivity was practiced throughout. The researchers’ beliefs were gNBS has potential benefits for newborns, families, and society; included conditions should be limited to clinically actionable, childhood-onset disorders; implementation should occur only with adequate genetic counselling capacity, and if pre-screening information is designed in a way to enable choice and reduce decisional regret.ResultsSearch resultsSearches identified 502 articles; 17 were eligible for inclusion (see Fig. 1).Fig. 1: PRISMA diagram showing flow of papers included in systematic review.Full size imageReasons for exclusion of articles are highlighted on the right of the pane [28].Study characteristics (Table 3)Articles were published between 2016 and 2026, from North America [33,34,35,36,37,38,39,40,41], Australasia [42,43,44,45] and Europe [46,47,48,49]. Data were collected via interviews [35,36,37,38,39,40,41,42, 45, 46, 48, 49], focus groups/workshops [33, 38, 43, 44, 46, 47] or survey [34]. Most explored hypothetical use of gNBS with parents or the public. Two studies specifically sought the views of children and young adults [34, 47]. Sample sizes ranged from 7 to 145 participants.With all studies examining views, it is important to know if information was provided to participants potentially shaping those views. The studies used different methods to brief participants: written information, videos to explain genomics and NBS. Some asked participants to define gNBS collectively, clarifying misconceptions before discussion [47]. Others employed short videos (3–10 min) to introduce genomics, sequencing, or WGS, with participants generally reporting greater comfort and understanding afterwards [33, 34, 43, 44, 46].Results of analysisAnalysis of parental and public perspectives identified two principal themes and corresponding sub-themes (Fig. 2), with a core concept of personalisation. Understandably, participants focused on their individual perspectives, but with a sense that they believed and expected that gNBS would think about the diverse needs of the population and tailor accordingly. The data further highlighted diverse service interaction needs.Fig. 2: Thematic map created.Full size imageTwo main themes (black boxes) were developed throughout the analysis process, with eight sub-themes (white boxes).Pre-conceptions about benefits and costs to individualsThis theme explored participants’ beliefs and prior knowledge that could influence engagement, focusing on the benefits and costs for an individual. It covers people’s beliefs about the personal impact of screening results, the cost to themselves of engaging in screening, the wider implications of engagement, and personal implications of genome data storage.Personal impact of screening resultsMultiple studies [36, 40,41,42,43, 45, 47, 48] identified public misunderstandings of how gNBS could be used, including studies where participants had received diagnoses, which could affect informed consent. Some papers specifically explored misconceptions, with participants describing gNBS language as unfamiliar, evoking science fiction entertainment, potentially acting as barriers to engagement:‘Thinking of Jurassic Park, are they going to take from the best babies to eradicate certain things, you know like where only most perfect babies are kept?’ [46]Some participants referenced prior prenatal screening, including the 20-week ultrasound, with the misconception that this can detect all conditions, rendering further screening unnecessary: ‘So, I’m guessing by 20 weeks you would know if you had any genetic conditions’. [46] Others believed a negative gNBS result indicated a ‘clean bill of health’ for their child, ‘It was effortless… I can get the reassurance I like. I do not need to keep worrying about genetic disease or keep looking for signs and symptoms’ [41] or predicted the child’s broader genetic future beyond medical conditions:‘I would like to know how athletic I was determined to be but hopefully I would be told later so I could be confident about myself at first’ [34]Not addressing these expectations could impact NBS engagement if people express dissatisfaction that gNBS failed to meet these expectations.Participants across all studies valued early diagnosis of a significant number of conditions via gNBS, reflecting the belief that ‘knowledge is power—the more you have the better’ [42]. Individuals with experience of a diagnostic odyssey emphasised the advantages of early identification, shortening the uncertainty experienced by families:‘…you can go through years of testing and hospitalisation trying to find an answer to a question about what’s going on with your child, and that would certainly make it easier if that could be available early on’. [43]Early detection was perceived to offer lasting advantages through prompt access to treatment and effective long-term management. Avoiding scenarios where parents are experiencing prolonged engagement with services to receive a diagnostic label is clearly valued, but highlights a discrepancy between expectations and potential reality.Given a specific case example of including adult-onset disorders in gNBS, participants saw value in receiving this information, recognising its potential lifelong relevance even when not immediately clinically applicable. Practical benefits of an early diagnosis, beyond medical intervention, were highlighted, ‘…as parents, you can start to prepare and find help’ [36]. For some participants in countries without universal healthcare, early diagnosis enabled financial planning before symptom onset:‘we’re low income so, I mean, finding out something drastic would be like, ‘Okay, well, now we need to prepare ourselves for insurance and we need to prepare ourselves to treat our child’. [35]Across studies, participants raised the emotional impact of receiving an early diagnosis from gNBS [35], or ‘… a long‘checklist’ of conditions for a beautiful healthy baby’ [50] impacting parent-child bonding:‘…I’m just concerned that people who are presented with these situations very early on, is that going to affect their emotional attachment and bonding with their child?’ [43]These data suggest an upper limit to how much information some parents wish to receive. Whilst not specific to gNBS, this emphasises the importance of considering what is returned, and that whilst knowledge is seen positively, there may be limits.Early diagnosis was perceived to facilitate emotional preparedness for the potential onset of a child’s genetic condition:‘I feel like, if I know, I’ll feel comfortable accepting what’s coming my way, because I’m prepared. I’m prepared in all aspects. And I could also prepare their siblings if anything and make them understand’. [38]The data indicated that parents expect and value a holistic service beyond diagnostic information ensuring they can move to an ‘action’ phase using the information for their families’ benefit. Young participants worried this information could cause parents to become more restrictive.‘I feel like I would have grown up with the pressure to keep the risk of my health conditions low. This meaning, I wouldn’t have gotten a chance to experience things I should growing up’. [34]Screening engagement costsParents wanted gNBS designed to minimise the costs of engagement. Several reported preferences for integrating sampling into existing healthcare interactions, minimising disruption for new parents:‘…the heel prick test has been done anyway and you could use the leftover sample. So, there wasn’t anything extra we had to do, there wasn’t anything extra the baby had to go through… it was a really easy one to say yes to’ [49]Expectant parents wanted reassurances the sampling process was safe and minimally invasive [37, 46], ‘…will she be a guinea pig or if it would not harm her. Pain would definitely sway me not to do it’ [46]. Concerns about potential harm were particularly reported amongst first-time parents [46], and those with prior complicated pregnancies (miscarriages, IVF treatment and health concerns). Some suggested sampling should happen after birth, ‘…so the baby is already born so you can’t have a miscarriage’. [37], noting that procedures like amniocentesis carry miscarriage risks.The novelty of gNBS raised concerns about its accuracy and the emotional impact of potential false results on parents [44]. This indicates a need to design services to minimise the costs to parents, while ensuring parents are aware this has been done to provide reassurance and reduce concerns about a novel screening programme.Wider influences of personal engagementWhen considering the impact of gNBS on the health of the wider family [40, 43,44,45, 49] participants understood that positive results delivered through gNBS could ‘…[have] other implications for families in terms of your broader family, if you find things out that are inherited…’ [43]. This led to a suggestion by one participant in this cohort that using gNBS to detect adult-onset conditions in newborns could be valuable for cascade testing in family members, even if not clinically actionable information for the newborn [44].Leblond et al. [46] provided information at the outset of interaction with participants that framed their study on gNBS as a research project. This identified that most parents were unfamiliar with the concept of healthcare research, and some may be discouraged from engagement with gNBS as ‘it doesn’t feel like it is about your baby but about a bigger thing, it’s not directly relevant to me’ [46]. This differed in participants who recognised the opportunity of using gNBS to improve research on genetic conditions, with a positive impact on population health:‘Over 200 genetic things that you can potentially find out, that’s amazing! You can help so many children’s lives. I’m a strong believer of helping others; one child could save many others; that’s a major thing!’ [46]Focusing on the benefit to babies, which many programmes do, appears to be an enabler of engagement. Participants within government-funded healthcare systems (Australia, New Zealand), raised the impact of early diagnoses from the introduction of gNBS on the healthcare system [42,43,44]. This was recognised as an enabler for effective use of precious healthcare resources within constrained systems through reduction of reactive approaches:‘Because if it’s good for the person, it’s good for the, it saves the health system money, there’s all sorts of benefits for the individual and society’. [42]Trust in those accessing gNBS dataMany studies [33, 36, 38, 43, 46,47,48] asked for views of long-term storage of genomic data generated through gNBS. Across these studies, a consistent range of variable views emerged, regardless of country. Participants recognised that gNBS data posed additional privacy concerns compared to cNBS, acknowledging that ‘I do see a considerable danger if there are complete data sets of my children’s genes somewhere, especially now with security gaps that are somehow alarming’ [48]. One participant also recognised that while genomic data is permanent, the legal frameworks that govern it may change [33].It was noted in the study focusing on the views of young adults [47] that there were minimal concerns related to the privacy and confidentiality of long-term data storage. This viewpoint was shared by some participants across the other studies, who trusted that the data would be secure:‘Well I actually feel really safe… that everything’s confidential and maybe it really doesn’t affect me too much that – that’s not really a problem for me’. [36]Participants were united in their reluctance to allow access to gNBS results by those outside of a direct healthcare setting (including insurance providers and government), with a common concern that ‘…if a child comes back saying that they have a higher chance of getting something, is that then going to affect their private health insurance?’ [43]. Most participants were in favour of having gNBS results available within medical records for healthcare professionals to view, to benefit their newborn:‘[Saving the data in the medical record] wouldn’t hurt. Easy access to anyone who needs it, you know, different departments usually work together…It’s unique to the child, so it should be ready and available’ [38]Overall, these findings show participants recognise that gNBS data poses heightened privacy and legal risks compared to cNBS. Despite variable comfort levels with its long-term storage, they generally support use by healthcare professionals for clinical benefit while opposing access by insurance companies or government amid unstable data protection frameworks.Assumptions about gNBS design—personalised careThis theme focused on the assumptions people had about the design of gNBS programmes, or how they thought they should be designed. Although not explicitly about their individual choice to engage, if these assumptions/desires are not met it could lead to gNBS being devalued, discouraging engagement. Subthemes of inclusivity, autonomy and ensuring informed engagement were created. Across them was the idea that gNBS considered individual needs and could be tailored to meet them, hence the theme title including ‘personalised care’.InclusivityDiversity, including family types, structures and ethnicity, was explored in Leblond et al. [46] during workshops. While some participants from ethnic minority backgrounds were ‘… very sceptical about medical research on profiling people’s DNA, especially black children. We have a lot of racial profiling as it is’. [46], there was strong desire for gNBS to be inclusive and representative:‘It’d be nice to see a variety of different people with different backgrounds, Asian, Black, White, Chinese, whatever, because it just gives you that better understanding of people’s backgrounds, because it impacts people in different ways’. [46]When asked to discuss views on how gNBS should be funded [44], equity of access was overwhelmingly felt to be important to reduce health inequalities. If not freely available, participants were concerned for the creation of a social divide between those who had the ability or insurance to pay privately and those who did not [44].In recognition that providing comprehensive gNBS screening programmes at a population scale would be expensive, some participants within the same study [44] suggested tiered access to the system. In this model, medical insurance or the healthcare system would fund the ‘basic’ test, with additional extra conditions paid for by parents, allowing all newborns to be covered for the most significant conditions [44].Equity of access and the creation of a gNBS social divide were also raised as concerns in the UK. Concerns were expressed surrounding ongoing clinical care required in some children following positive gNBS diagnoses:‘…it may only be the people who have the ability to pay for private healthcare or have more access and money to treatments and then, the poorer families who know their children are going to end up with this, there’s nothing they can do about it. So, there might be some kind of massive divide’. [47]These findings highlight the importance to participants of ensuring that gNBS is both inclusive and equitably accessible, considering the needs of society as well as interacting on a personal level, as explored in the previous theme.Control of healthcare choicesA variety of viewpoints were expressed within, and across all studies about who should make the decision to use gNBS. A minority expressed ‘We are ‘what’s best people’ when it comes to the medical professionals and stuff like that, if they’re like well this is what we do then I’m just like, OK, well this is what we do’ [45]. This reflected a traditional paternalistic approach where ‘the doctor knows best’, and acts within the best interests of newborn, avoiding concerns that parental ignorance could lead to harm [36].Although not noted to be separated by any explained demographic differences, the majority across all studies expressed ‘I’m all about choice, especially in healthcare, but informed choice and decision making…’ [44]. Education and healthcare provider decision support was widely recognised as essential for informed parental choice:‘Being able to explain, like the tests a little bit like in terms that people who don’t do this every day would understand…I felt like I had to keep asking like, ’all right, so this test is testing for this. What does that mean?’…There’s just so many tests and labs and stuff that they’re looking at, that someone who’s never done that, it’s overwhelming hearing it’. [40]Some participants who wanted parents to determine consent felt it was important to be able to withdraw consent later. This also reflected the value of the child’s autonomy, considering the newborn had not consented to the use of their data in later life:‘‘Long-term’ stood out – what is long-term? Are we signing our child up for further testing and research long-term? What is expectation on the child since they are not consenting here?’ [46]When specifically asked in Lynch et al. [43] if there was a need for a different consent process for gNBS than cNBS, most individuals suggested that the additional potential implications through gNBS necessitated a more in-depth approach [43].Consideration of choice over gNBS was not limited to who should decide. Participants across all studies also provided input on the included conditions. Within and across studies, there was no clear consensus on inclusion criteria. Some participants suggested they would want any known genetic conditions included within the scope of gNBS [44].While there was no suggestion from authors as to why there might have been differing views, other participants suggested that inclusion should be based on the severity of the condition. These participants expressed that priority should be given to treatable, severe, early-onset, and highly penetrant conditions:‘It would have to be something quite serious. Something like that then I can understand why people would definitely want to get tested. But the things that you can live with, I don’t think it’s necessary’. [42]In studies particularly exploring the views of children and young adults [34, 47], all children felt that treatable and untreatable conditions should be screened. These studies included children with diagnoses and young adults recruited via universities. Young adults were more conservative in this aspect ‘… if I were to have a terminal disease I wouldn’t want to know about it’ [34]. Some expressed a reluctance to carry unwelcome information that might weigh heavily on them and their families:‘…if I found out I had like, I don’t know a predisposition for Alzheimer’s or something I would really not want to know right now at all’. [47]A common suggestion across studies, regardless of the reason for wanting differences, was to personalise the genes included within gNBS, using a tiered or selection-based approach. This was viewed either as an addition to a mandatory component ‘I think once you go beyond the kind of childhood things, I think then those should be more optional’.[33], or reflecting a flexible ‘pick and mix’ approach:‘…maybe it needs to be a two-part testing where you can opt to have just the first bit where, you know, it’s curative or you’re preventing, you know, severe disease and disability, or you’re all in’. [44]Participants recognised the need for clear communication with healthcare professionals possessing the necessary skills and training to provide education and support prior to consenting. [36] Participants held diverse views on decision-making and consenting for gNBS. This ranged from trust in a paternalistic model to a strong emphasis on informed parental choice.Pre-test communication—ensuring informed engagementMultiple studies [39, 40, 43, 45, 46] asked participants to consider with which healthcare professional it would be most appropriate to discuss gNBS involvement. A range of staff groups were suggested by participants, limited to those already involved in the pregnancy care pathway:‘…in terms of who this information I suppose is given, or who gives this information, I would say it would be best coming from an obstetrician or maybe a midwife if that’s…who’s looking after the pregnancy. Maybe GPs…’. [43]Contrasting views were expressed regarding the amount of information that would be useful before consenting to gNBS, reflecting the range of different information needs and learning styles found in any population. Some ‘deep divers’ reflected that ‘I think as much information as possible should be given to parents. It might be overwhelming but you would rather tell them than not tell them…’ [43]. ‘Skimmers’ expressed that an overload of information could result in them disengaging or only taking in high-level information:‘I thought that level of detail was great … but I do not know if that would be more confusing for someone who’s not a scientist’. [41]When asked to consider the optimal timing of gNBS consent in three studies [36, 43, 46], all participants suggested that this should happen during pregnancy rather than after birth. A minority of participants suggested early during pregnancy ‘…where women have just found out they’re pregnant or they’re planning to become pregnant…’ [43]. The majority of participants preferred to consider and discuss gNBS later during the pregnancy, ‘after the ‘danger zone’’ [46], during the second or third trimesters, where there was still time to research and make an informed decision [36].In multiple studies [36, 39, 40, 42, 43, 46, 48], participants were asked to consider the format of the information that would support gNBS consent discussions. Participants wanted this information in as many formats as possible, with ample follow-up opportunities for questions, to successfully reach the largest audience [43].Participants desired effective pre-test communication for gNBS, delivered by trusted pregnancy care providers (e.g. obstetricians, midwives, GPs) during the second or third trimester. They wanted tailored amounts of information, in multiple formats, with opportunities for follow-up questions to accommodate different learning styles and emotional outlooks.DiscussionThis study explored parental and public views across seventeen studies, covering five countries and three continents, on the use of gNBS to understand assumptions, expectations and concerns they had and how these might improve or discourage engagement. This synthesis reveals a complex public perception of gNBS. This is influenced by prior pregnancy and healthcare experience, health literacy, emotional reasoning, and beliefs about healthcare decision control. These findings echo previous work demonstrating the impact of preconceptions and previous experiences on expectations, decisions and resulting outcomes [20]. Findings suggest that emotional responses to gNBS results are also based on prior knowledge and expectations, as shown in other screening programmes [51]. Misunderstandings were exacerbated by media portrayals of genomics, which is important as media can be a hugely influential information source [52].As shown in previous reviews, participants valued early diagnoses, offering opportunities for timely interventions and emotional, logistical and financial preparation. A motivation for accepting gNBS was the belief that their child would benefit from having their genomic information available for healthcare during their lifetime. Where potential societal benefits of supporting this research were explained, participants were keen to participate, fitting with other’s findings that altruism can motivate engagement [53]. Additionally, our systematic review identified participants within taxpayer-funded national healthcare systems reflected on the financial and resourcing benefits to the system of reducing the diagnostic odyssey and associated unnecessary medical diagnostics and treatment.Interestingly, most of the concerns about gNBS raised in this review have also been raised about cNBS. Parents raised concerns about how the sample would be taken and whether this will negatively affect their child, a common concern with the heel prick test which services seek to address. This may be more problematic for gNBS, given that cNBS has been normalised in some countries to the point where it is expected to happen (which may be one reason for its high uptake). There is emerging evidence that people expect gNBS to be a considered choice, and more people may decline screening, therefore any costs of engagement have a bigger potential impact on gNBS. Concerns were raised about the potential for false positives and false negatives, an issue present in all screening. Another concern, shared with cNBS, was how the results could impact parents, including impacting parent-child bonding during the neonatal period and the negative emotional impact of knowing about risks parents could do nothing about [54] It is unknown whether these concerns will be amplified in a programme where people see the findings in more deterministic ways, or there is lower threshold for people to say no to screening as discussed above. A new take on the vulnerable child concerns raised in cNBS by young adults was that their parents may have treated them differently to their peers, resulting in an overprotective approach with a potential ‘lost childhood’. Although data from one gNBS pilot suggest families experience no negative psychosocial effects following gNBS [55], these findings need to be replicated, and the factors influencing this position better understood.Importantly, participants in some papers were explicitly instructed not to consider the cost of the technology in their considerations [37], yet concerns were raised in other papers about how gNBS could exacerbate the social divide if screening and follow-up care were not free to all, or at least the most critical tests were included as standard, with additional tests optionally available. This mirrors recommendations from the Global Alliance for Genomics and Health [56], which suggests that if gNBS is a public health program, it must include clinical follow-up, required medical interventions, and genetic counselling. In line with previous studies [57], participants were concerned about discrimination if healthcare insurance companies were allowed access to results from gNBS. Linked to this, participants wanted stricter data governance than for cNBS, given the longitudinal relevance of genomic data, again highlighting that gNBS is seen as a different choice to cNBS. We should not assume, when designing gNBS, that issues in cNBS will be tolerated in gNBS. Concerns over the discrepancy between the permanence of gNBS data and the transient nature of the legislation which regulates access to it were raised as a potential barrier to engagement. Notably, younger participants were less concerned about data use, possibly reflecting a generational shift in digital privacy expectations, but more work is needed.The challenge of meeting the pre-screening information needs in population-wide screening programmes [22] was evident in our results as participants varied in how much and what type of information they wanted [46]. Educational materials providing quick information whilst signposting further reading were advocated [46], as was providing a range of formats as suggested in cNBS [22]. This review echoed findings in the cNBS research that timing of information provision was seen as critical, with participants wanting the consent process to start in pregnancy rather than postpartum [22]. Similar to cNBS, participants across all demographic groups wanted a real informed choice [22] despite believing consent for gNBS was more complex and required more information. Although this has been argued for cNBS, it has not always been implemented [22]. It may be that the public will not engage with gNBS without this. Careful communication by experts, with the required genetic knowledge and the skill set to tailor discussions to parents’ needs, is likely to be a defining enabler of gNBS engagement. Participants favoured communication with healthcare professionals already involved in their care, such as midwives or obstetricians, whilst also expressing concerns over the preparedness of these individuals to deliver the communication, in common with the barrier suggested by mainstream professional groups on the impact of implementing genetic screening [58]. Furthermore, participants wanted not only to choose whether their child had gNBS, but also to choose which conditions to screen for, showing a preference for tiered or customisable testing frameworks. The complexity of this model was amplified by studies with young adults, who were clear that they would not wish to carry the knowledge of adult-onset and degenerative conditions throughout their lifetime. This reminds us that gNBS differs from other screening programmes, where the person consenting is often the person whose health information is being generated, affecting both the parent and the child growing up with the information. It is also clear that expectations of the level of choice and tailoring of the service to individuals does not fit the cNBS model and is likely to be challenging to implement within the resource constraints of many countries. Work on communication strategies will therefore need to address expectations and differing views about what information should be reported. Balancing these needs and effectively managing parental expectations regarding their level of choice for consent in population screening is important.The representation of diversity of family types, structures, and ethnicities in materials used when introducing gNBS to parents was seen to be important to encouraging widespread engagement. A careful balance must be struck between this representation and avoiding exclusively using these groups in materials, to avoid making parents wary that gNBS represents a form of racial profiling. The co-creation with the public and parents from diverse backgrounds will help ensure that materials are well targeted and represent a key facilitator of engagement with these groups, reducing health inequalities. Recruitment of peer-community champions to authentically bridge the barrier between healthcare professionals and underrepresented communities may also help facilitate engagement, as shown in existing community champion programmes to be effective [59].LimitationsThis study draws on multiple qualitative studies across diverse settings with a varied demographic. It extends the literature search period of previous reviews by 21 months in which time seven papers were published, a sizeable proportion in this field. This review is the first to look at the quality of the evidence on this topic, which suggests that although overall the quality of research is good, as seen elsewhere in NBS research, some papers focused on particular conditions and the parents could have differing views based on those experiences. Furthermore, the heterogeneity of the small number of studies in terms of participant demographics, cultural contexts, and healthcare systems limits the transferability of findings to all populations. Also, studies often represent viewpoints on a hypothetical gNBS, yet people could hold different views when gNBS is implemented. Some studies provided educational framing before or during engagement, potentially influencing participant perceptions and reducing the spontaneity of responses. A counterargument is that this is necessary given the low levels of knowledge generally. Without this people are more likely to give a response that is shallower and less likely to fit with their core beliefs, widening the mismatch between research and experience in practice. Our review focused on parent and public views and excluded those of healthcare professionals and policymakers, which have been more widely studied. These individuals tend to have more conservative views surrounding the readiness of gNBS for population-wide implementation [60, 61]. Finally, although young adults and children were included in a few studies, their perspectives remain limited and are not yet fully integrated into broader policy discussions.Future research and implications of this reviewThis review highlights the need to improve the knowledge gap and correct misconceptions about gNBS to enable parents to make the informed choice they value. The design of the original studies makes it hard to discern from our review what the impact was of different briefing methods used in the studies, and it would be advantageous for a study to be designed to explore this. Previous research has highlighted that there are flaws with all formats and tailoring resource types and contents to people is necessary in such diverse audiences [22]. Co-designing materials with parents is a sensible way forward to deliver this aim [46]. Materials should be multi-lingual, accommodate variable health literacy levels, and incorporate graphical [62] and ‘easy-read’ representations of information [62]. Work to explore how the tailored approach to consent and post-test counselling as represented in the NHS Constitution [63] and the AHCS Professional Standards of Good Scientific Practice [64] is feasible in this setting could improve choices, reduce harm and increase public support for gNBS. Given the value placed on personal health improvements, healthcare systems will need to consider creating a ‘unified genomic record’ that makes sequencing data available to clinical teams treating the individual. Further work is also necessary to make people aware of societal gains from gNBS and actualising these, as these were motivating factors when people became aware of them. Clear legal guidance on access to gNBS databases, including by health care insurance companies, is required to maintain public confidence and understand the implications of stored genomic data should data governance legislation change.If increased engagement of minority groups with gNBS is to be achieved, the substantial inequalities they experience in access to genetic counselling and support [65] must be prioritised. Population data sets used for filtering of genomic data have historically under-represented non-European ancestry populations, leading to greater difficulties in variant classification [66]. While these issues are outside of the scope of the introduction of gNBS, failure of the scientific and healthcare communities to adequately address them will represent a barrier to the long-term engagement of minority groups. Likewise, research must incorporate diverse viewpoints, including ethnic and cultural minority communities, non-English-speaking populations, individuals in rural or under-resourced areas, and the insights from children and young adults. This would allow for educational materials and approaches to be tailored to minimise any health inequities in access to gNBS. Crucially, this paper shows how people will use information from tangential health care experiences or media representation to make sense of novel health care. Concerns have been raised about how gNBS could impact on cNBS uptake. This use of vicarious knowledge would warrant caution, as if people become concerned about gNBS due to a lack of information, social dialogues may not make a distinction between gNBS and cNBS, impacting uptake rates for both.The workforce must be upskilled to impart the additional genetic knowledge required to deliver the communication and support required for gNBS. Failure to provide this will create a barrier not only to engagement with gNBS but also impact parents’ confidence in healthcare professionals’ ability to deliver their existing roles.ConclusionThe integration of genomic technology into newborn screening presents a transformative opportunity to enhance early detection and management of rare genetic disorders. By enabling the identification of a broader spectrum of conditions through a single test, gNBS can significantly reduce the diagnostic odyssey for newborns and their families, facilitating timely interventions that improve health outcomes. Moreover, the implementation of gNBS at a population level offers the potential to generate valuable data, advancing genomic research and informing healthcare provision beyond individual cases.However, the success of such a programme hinges on addressing the preconceptions and concerns of parents and the public. Building trust through effective communication, engaging stakeholders, and ensuring informed consent is critical to maintaining the high uptake of current NBS and the overall effectiveness of the programme. Engaging with diverse stakeholder groups is essential to understand the personalised healthcare choice they wish to make, ensuring that the programme aligns with societal values and expectations. As we move towards integrating genomic technologies into public health initiatives, it is imperative to balance scientific advancements with ethical responsibility, ensuring that such programmes are both effective and socially acceptable.This research has highlighted the parental and public views that should be considered in the development of a newborn screening programme such as the Generation Study, which aims to explore the feasibility of expanding current biochemical screening within the NHS framework, as well as identifying further questions for consideration in future research.ReferencesGray JA, Patnick J, Blanks RG. Maximising benefit and minimising harm of screening. Bmj. 2008;336:480–3.Article CAS PubMed PubMed Central Google Scholar Department of Health & Social Care. The UK Rare Diseases Framework 2021 [05/02/2025]. Available from: https://assets.publishing.service.gov.uk/media/5ff781138fa8f5640335254e/the-UK-rare-diseases-framework.pdf.Department of Health & Social Care. 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Genome Med. 2021;13:17.Article CAS PubMed PubMed Central Google Scholar Download referencesFundingThere was no funding for this work.Author informationAuthors and AffiliationsManchester Academy for Healthcare Scientist Education, University of Manchester, Manchester, UKRachael SweetlandBristol Regional Clinical Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust (UHBW), Bristol, UKRachael SweetlandManchester Centre for Health Psychology, Division of Psychology & Mental Health, School of Health Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Mancheste, Manchester, UKFiona UlphAuthorsRachael SweetlandView author publicationsSearch author on:PubMed Google ScholarFiona UlphView author publicationsSearch author on:PubMed Google ScholarContributionsConception, study design and final decisions, re: article inclusion, analysis and meta-synthesis: all authors. Database searches and screening, data extraction, quality appraisal: RS. Drafting the article: RS. Revising the article: all authors. All authors read and approved the final manuscript.Corresponding authorCorrespondence to Fiona Ulph.Ethics declarationsCompeting interestsThe authors declare no competing interests.Additional informationPublisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.Rights and permissionsOpen Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. 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