Routes to expanded carrier screening in the UK: the perspectives of professional stakeholders

Routes to expanded carrier screening in the UK: the perspectives of professional stakeholders | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Routes to expanded carrier screening in the UK: the perspectives of professional stakeholders Cathy Herbrand, Kriss Fearon, Pascal Borry, Lorraine Culley, Nicky Hudson, and 4 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-7273962/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 22 Apr, 2026 Read the published version in Journal of Community Genetics → Version 1 posted 9 You are reading this latest preprint version Abstract Expanded carrier screening (ECS) is a genetic test, increasingly used before conception, to assess prospective parents’ risk of transmitting autosomal recessive and X-linked pathogenic genetic variants to future children. This paper is the first to describe the distinct coexisting routes to ECS in the UK, and to consider key professional stakeholders’ perspectives on the usefulness, advantages and challenges of these distinctive routes in a national context where ECS is almost exclusively available commercially with little regulatory oversight. Data is based on an extensive systematic search and mapping of ECS providers offering tests in the UK, and interviews with 37 stakeholders involved in the practice, provision, or governance of genomic reproductive technologies in the UK. This study identifies and describes three distinct, parallel routes where ECS is taken up: non-IVF conception, IVF conception (with couple’s own gametes), and gamete donation. We found that these routes served very different needs for clinicians, and identified inconsistency across the routes, with significant variations in cost, access, panel composition, and the level of support for test takers, especially in direct-to-consumer testing. These challenges are compounded by the absence of clear regulatory oversight. Findings suggest that ECS should not be treated as a single, uniform practice. Rather, its framing, implementation and perceived value must be understood in relation to the specific institutional, clinical, and social contexts in which it is situated. This contextual understanding is particularly important for informing the regulation and guidance of the distinct ECS offerings. Expanded carrier screening Preconception genetic test Qualitative study Professional stakeholders Assisted reproductive technology Introduction Expanded carrier screening (ECS) is a genetic screening test that can identify an individual’s carrier status for a wide range of autosomal recessive and X-linked genetic conditions. This type of screening is increasingly used for reproductive purposes, usually before conception, to evaluate the risk of transmitting pathogenic variants to future children (Martin et al, 2015 ). ECS is being introduced in a growing number of countries and through a variety of routes and providers. While the use of ECS has been explored for specific purposes, e.g. as a reproductive screening tool for the general population (van Steijvoort et al, 2020 ), as a factor affecting reproductive decision making for infertile couples (Franasiak et al, 2016 ), or within the context of gamete donation (Glenn, 2019; Payne et al, 2021 ), there remains a lack of published research offering an overview of how ECS is offered via different routes in parallel in the same national context, and the specific opportunities and challenges each route presents from the perspective of professional stakeholders’ involved in the process. In addition, there is very little data on this topic in the UK context. Most papers about professional stakeholders’ views of ECS discuss its clinical use and its general benefits for prospective parents, including increased reproductive autonomy and choice (Henneman et al, 2016 ; Jämterud et al 2021 ; van der Hout et al, 2017 ), reducing the chance of genetic variants being passed down the generations (De Wert et al, 2014 ) and the avoidance of the birth of a child with severe, life-changing conditions and the subsequent impact on the family (Matar et al 2016 ; van den Heuvel et al 2023 ). ECS was also perceived by stakeholders as offering the advantages of not being ethnicity based and therefore being more widely accessible (Janssens et al 2017 ; van der Hout et al 2017 ). Its routinisation was also seen as potentially reducing the stigma of being a carrier (van der Hout et al 2017 ). There is a limited literature exploring the contexts of ECS in fertility treatment. Fertility treatment was seen as an opportunity to offer ECS with professional support (Klein et al, 2024 ). Use of ECS can reduce the rate of termination of pregnancy for medical reasons or having a disabled child; several authors regarded this as especially important for patients having IVF, due to the cost and emotional and physical effort of getting pregnant (Cho et al, 2013 ; Klein et al 2024 ; Drettas et al, 2023 ). Specific benefits were identified for donor conception. ECS was viewed as a useful matching tool between donors and recipients to avoid creating carrier couples (Klein et al 2024 ) and there is a strong rationale for using it to reduce the chance of genetic conditions in donor-conceived people (Evans et al, 2024 ). It is also perceived as a measure to minimise the risk of legal liability for clinics (Klein et al 2024 ). The literature also discusses professionals’ views of the challenges and limitations of ECS, including the difficulty in implementing ECS with the right information and support for test takers (Pasquier et al, 2022), the risk of anxiety for test takers (Hoarau et al, 2022), the lack of appropriate care pathways for couples receiving a positive result, and its high cost, which limits access to those who can afford it (Henneman et al, 2016 ). Healthcare workers working in fertility clinics were not always confident that they would be able to support patients with ECS, highlighting the need for genetics training (van den Heuvel et al, 2023 ; Porwal et al, 2025 ). In the context of fertility treatment with donor gametes, concerns have been raised about the potential decrease in the donor pool if donors carrying genetic variants are excluded (Callum and Isley 2016 ). Due to questions about the level of population-wide risk-reduction for severe but rare genetic conditions and the cost-benefit of ECS, its feasibility as a publicly-available genetic test funded through the NHS (National Health Service) is yet to be established (Rowe and Wright, 2019). This paper is the first to describe the distinct routes to ECS which have emerged and coexist in the UK and to consider key stakeholders’ perspectives on the usefulness, advantages, and challenges of these distinctive routes to ECS in this setting. ‘Route’ refers here both to a mode of access and a specific context in which ECS is offered. In this respect, the UK presents a particularly compelling case as while ECS is not offered via the NHS, various ECS offerings exist and operate with little regulatory oversight, and no agreed medical pathway or specific strategic plan of delivery, unlike in some other countries where it has been adopted. It can serve as a useful example for other countries where similar distinctive routes to ECS might exist. Here we explore how ECS is perceived by professional stakeholders, such as clinicians, genetic counsellors, and test providers, and how it is being implemented in the UK, discussing each of the three identified routes in turn: non-IVF conception, IVF couples using their own gametes, and gamete donation. Material and Methods The data discussed in this paper are drawn from a wider ESRC-funded project examining the emergence of ECS in the UK reproductive landscape and its social, ethical and policy implications. The analysis is based on data drawn from a mapping of ECS offerings in the UK (Herbrand et al., 2024 ) together with semi-structured online expert interviews (Van Audenhove, L., & Donders, K. 2019 ). The mapping involved a comprehensive online search aimed at identifying genetic test companies, UK genetics clinics and UK fertility clinics (private or NHS) based anywhere in the world, that provided ECS testing in the UK or imported donor gametes with ECS test results. The search also sought to gather information on the characteristics of their ECS provision. Interviews were conducted with a sample of 37 stakeholders involved in the practice, provision, or governance of genomic reproductive technologies in the UK. Patients’ perspectives are not reported in this paper, other than as reported by professionals. All participants were selected due to their professional experience with, or informed perspectives on, ECS practices and policies. We adopted a purposive iterative sampling strategy (Patton, 2015 ) and identified prospective participants via policy documents, publications, and conferences, and by consultation with the project’s advisory group, coupled with the results of ECS mapping. To ensure a comprehensive range of perspectives, we aimed to recruit stakeholders working in three main sectors relevant to our study, i.e. policy, clinical and commercial sectors, which included individuals from different professions (e.g. clinical geneticists, fertility clinicians, policy specialists) (Table 1 ). An interview guide was developed with the project’s research team and piloted with members of the project advisory board. Interviews explored stakeholders' understanding of and personal position on ECS offerings, their perceived benefits and disadvantages, their recommendations on practice and policy guidelines and when relevant, their experience of using ECS in practice All interviews were conducted online, lasted between 30–60 minutes, and were then audio-recorded, professionally transcribed, checked by the RF and the PI. Transcripts were analysed thematically using inductive thematic codes in NVivo (Braun et al, 2023 ). Table 1 Participants 17 participants had direct experience of offering ECS via one or more routes: 11 participants worked for organisations that offered testing in non-IVF conception, 12 for organisations that offered testing in IVF conception (for couples using their own gametes), and 15 for organisations that offered testing to gamete recipients, including one in the NHS (with ICB agreement and if the donor's condition met NHS criteria). While not all participants had direct experience of offering ECS, they all had the expertise to provide informed opinions about its usefulness across different routes of access and contexts. Policy Fertility/genetic clinics Genetic companies Total Genetic counsellors 1 5 (inc 1 NHS) 2 8 Clinicians (incl clinical geneticists) 1 (NHS) 12 (incl 6 NHS) 2 16 Embryologists 2 1 3 Policy specialist 6 6 Other 1 3 4 Total 8 21 8 Perceived usefulness, advantages, and challenges in specific routes to ECS ECS for reproductive purposes is available in the UK through three main routes and delivered in different – though partly overlapping – settings, and presenting their own specificities: non-IVF conception, IVF conception or gamete donation. Participants had contrasting views about in which context ECS was most useful, as this screening test was perceived as presenting different advantages and challenges in each of them. Table 2 Findings summary Usefulness of ECS in this route Advantages of this route for ECS offer Challenges of this route for ECS offer Non-IVF conception • Increased reproductive autonomy • Risk mitigation/ prevention • Preparing the parents for the birth of a child with a condition • Gives reassurance • Difficulty to identify and reach out to potential users • Possible increased users’ anxiety • Lack of relevant information and appropriate support • Quality of the test and result IVF conception (using the couple’s own gametes) • Avoid further challenges for already vulnerable couples • Commercial interests • Reputational benefits for the provider • Easily added to IVF protocol • Possibility of follow-up treatments in case of positive result • Clinicians’ reluctance to offer the test if perceived as non-essential or irrelevant • Concern about being seen to offer add-ons • IVF patients’ lack of interest in the test • Challenges resulting from a positive result • Extra cost and delay added to treatment ECS in gamete donation • Risk mitigation tool in a context where transmission is multiplied • Protects clinics from legal liability • Possibility of changing the donor if a risk is identified • Logistical challenges when dealing with imported tested gametes • Need to provide pre- and post-test genetic counselling • Lack of clear and specific policy guidelines about the use of a positive carrier donor • Additional challenge to discuss with recipients • Concerns about delaying the treatment • Extra cost ECS for non-IVF conception This route describes couples planning a pregnancy who access ECS outside the context of fertility treatment through private providers. We found that ECS is not offered in the NHS. Our mapping of ECS in the UK identified that this screening test is currently available mainly via ‘physician mediated’ private providers (Chokoshvili et al., 2017 ) – i.e. test-takers need to get a signature from a doctor before going ahead - as well as being offered direct to consumer without medical intervention (e.g. 23andMe). Tests are available via private genetics clinics, private fertility clinics, and from some independent genetic consultants and other commercial companies (such as private ultrasound clinics). These private providers resell ECS tests from genetic test companies, such as iGenomix (which also sells ECS online to individuals; see below). By contrast, ‘direct to consumer' tests, i.e. without medical supervision, are available online or over the counter, via resellers such as pharmacies. As an example of the complexity of choice for test takers, a national ultrasound company re-sells eight different couples’ ECS tests from three different test providers, ranging from £450 for four conditions, up to £1500 (panel size not described). Some health and ancestry tests integrate some carrier screening, such as 23andMe, which includes testing for 45 variants for £159. One of the fertility clinics offers a package including couple ECS testing for 500 disorders and pre- and post-test counselling, costing £1600; this is aimed at couples who want an ECS test as well as fertility patients. There is little regulation of direct-to-consumer genetic tests and enforcement of regulations on tests sent from outside the UK is very difficult. According to the participants, while the number of so called ‘self-referrals’ was still low, they were on the increase. I think there's a lot of couples now who just want to come and get this testing done and make sure that they can have a healthy child. SH14, genetic counsellor, private genetics clinic Private genetics clinics were more likely than fertility clinics to be the first point of contact for both prospective parents with no known genetic risk or fertility issues, and ‘at-risk couples’ because of consanguinity, ancestry background or family history. Most participants we interviewed felt that ECS could be valuable for any couple planning a pregnancy because it increases reproductive autonomy and so it should be made available to couples who wished to pursue it. While the likelihood of being a carrier couple (where both parties are carriers of the same pathogenic variant) is relatively low, a positive result was regarded as meaningful information that the couple may decide to act on. People can decline, obviously. But it allows people to have that reproductive autonomy then, at the end of the day, and prevent births of significant disorders. Which then has, obviously, huge psychological impact for the family for the rest of their lives. SH29, genetic counsellor, fertility clinic Most participants also considered that ECS could be useful to mitigate risks and/or prevent the transmission of genetic disorders; in addition, some highlighted its potential to prepare parents for the birth of a child with a genetic condition. The advent of preimplantation genetic testing, it offers you an option. And even if you don't want to take that option, it offers you knowledge that might influence what you want to do. SH13, clinician, fertility clinic Another benefit mentioned was that ECS could also provide important reassurance for people who were prompted to take the test because they had friends or family who had a child with a genetic condition, and that had raised their awareness of the potential for themselves. I find that most of them say, either that they know somebody who had a baby with a genetic condition, and that then made them aware that there's a risk there that they didn't really know about before. SH10b, genetic counsellor, test provider However, this route to ECS was also seen as presenting specific challenges and drawbacks. One of the main challenges to the wider use of ECS outside the fertility setting mentioned by participants was a lack of awareness of this screening option among prospective parents. This was attributed, in part, to the difficulty of identifying and reaching people who are planning to conceive, at a stage in their reproductive journey when ECS would be most relevant and when they might be most receptive to the idea of testing. It's not like the US where, you know, there's so much awareness, and also there's so much access to it that you could directly approach a commercial company and get tested like that. SH21, clinician, test provider Some participants also feared that ECS testing could, in some cases, make people with a low risk of a positive result unnecessarily anxious. The individuals that will choose to have it are individuals who are already worried. [...] They're going to intensely read about those things that usually mean nothing for them. But they're going to be really worried about what they mean. SH06, clinician, fertility clinic Moreover, 19 participants had concerns about whether, and how, the test parameters and results, e.g. their scope and limitations, were communicated clearly to participants, especially when ECS was taken direct-to-consumer. If they had a result that was positive or that they simply could not interpret, participants worried that users may not have easy access to counsellors. A lot of the online companies and the direct consumer companies will say, please see a genetic counsellor if this happens. Well, they don't provide it themselves, they don't employ genetic counsellors themselves. SH05, genetic counsellor, fertility clinic Importantly, while ECS is not available routinely via the NHS, staff working for the NHS reported that direct-to-consumer and online tests have created new challenges for them by causing a significantly increased workload. For example, several participants mentioned that NHS genetics services were burdened by appointment requests from people with direct-to-consumer genetic test results, including from ECS. Prospective couples with a positive result would also contact them to be referred for further treatment, such as PGT-M, or for match tests in the context of gamete donation (see below). This is a good thing for the NHS in a way, because it shows that people do trust the NHS when they want to have an unbiased opinion from the public service. But it is a burden we are not able to cope with. SH12, clinical geneticist, NHS genetics clinic Several participants, in particular those working in the NHS, were also concerned about the quality of online ECS tests, especially their lack of accreditation, as well as that of their results. And the robustness of the testing, anything that's direct-to-consumer, I always worry about the transparency, and what platform have they used and how reliable are the results. SH09, clinical geneticist, NHS genetics clinic Another geneticist from the NHS said that the direct-to-consumer test results she had been asked to interpret included genetic variants that were not disease-causing. The fact that they're reporting things which aren't variants as variants, or things that aren't disorders as, ‘he's a carrier for this thing’. And the extreme difficulty of interpreting a variant interpretation with no family history, no information. SH15, clinical geneticist, NHS genetics clinic This type of result was felt to lead to needless anxiety for test-takers and additional work for the genetics team, who had to re-analyse and interpret otherwise harmless results. ECS for IVF couples using their own gametes ECS can also be offered to IVF couples using their own gametes. In the UK, our mapping shows that this type of offer is provided via a small number of private fertility clinics and some private independent genetic counsellors by referral from a fertility clinic. Fertility clinics either arranged their own counselling and support, or if they didn’t have the resources for this, outsourced it to a genetic testing company or an independent genetic counsellor. Depending on the providers, both partners may have ECS simultaneously or one partner (usually the woman, to include X-linked conditions) tests with ECS and the other has a ‘match test’ for the variant(s) identified in the partner before starting a cycle. The cost for this type of testing ranges from £1000-£1500 and, in this setting, it is usually offered via fertility clinics or by reproductive genetic test providers. Fertility clinics are regulated by the HFEA, which, however, does not regulate the offer of ECS. While ECS was not yet widely available in UK fertility clinics, some participants believed that one of the benefits of using it in this context was to avoid further challenges for prospective parents who were already vulnerable, by increasing the likelihood of a healthy live birth. This was especially important in the context of IVF because each cycle was already stressful and expensive. I've seen people try for 10 years to have a baby, and then have a baby that's affected with a genetic problem. And it's huge, it's always a tragedy [...] So, the idea that maybe you can reduce that risk by doing some extended carrier screening is something that I'm intrinsically comfortable with. SH13, clinician, fertility clinic One of the key perceived advantages of this route was that ECS could be easily offered and added to their IVF protocol, when couples were already in the clinic and receptive to information. It's kind of a window of opportunity to incorporate prevention of recessive genetic diseases. SH19, clinician, genetic test provider So given that we are already applying a medical intervention [...] If there is a tool that could prevent a very, very serious condition, even though the condition is probably very infrequent, so why wouldn’t you apply it. SH20, clinician Moreover, for IVF couples who had a positive ECS result, follow-on treatments were already available in some clinics (such as Preimplantation Genetic Testing (PGT-M), which enables testing embryos for a specific genetic condition and selecting non-affected embryos for implantation). For some clinicians, offering ECS to IVF patients was therefore seen as having commercial value for fertility clinics, not only through the sale of the test itself, but also by creating additional opportunities to offer PGT-M. Conversely, another test provider speculated that clinics that did not offer PGT may not provide ECS to IVF couples because they could not offer follow-on treatment if there was a positive result, and the couple would need to go elsewhere for their treatment. I just wonder, for the clinics who can’t offer PGT, are they worried that the result might mean that those patients don't go ahead with their treatment for that particular clinic potentially. SH10b, genetic counsellor, test provider In another clinic, offering ECS to IVF couples was done for reputational reasons: they wanted to be able to provide any service that patients might want, even if the uptake and profitability was low. It's something we feel that we have to be able to offer if patients want it. Because we've always prided ourselves in this clinic that we can do everything. SH13, clinician, private fertility clinic Participants nonetheless identified several challenges they believed limited the uptake of ECS among IVF patients. These included: a lack of communication from clinicians about the test; the urgency couples felt to proceed quickly with treatment; limited patient interest in the test; the cost of the test itself; and the potentially expensive and complex follow-up in the event of a positive result. A first key issue identified was the lack of communication from clinicians regarding the availability of ECS. For instance, two participants working with IVF patients said they would only offer it to couples who asked or were selective about when they mentioned it. It's not something that we put out there just as a general conversation with IVF patients. [...] People will have to explicitly ask for it to have it. The times I've brought it up is when I've seen a patient for another reason, for example, to discuss PGT-A testing, and they tell me they're consanguineous, for example, then I would strongly recommend it. SH29, genetic counsellor, fertility clinic Clinicians often held divergent views about who the test would be most appropriate for. Some, for instance, considered ECS to be particularly relevant in the context of gamete donation, but not for couples using their own gametes. Others chose not to mention the test during the initial fertility consultation, believing that patients were already overwhelmed by the amount of essential information presented at that stage. A few also expressed concerns that raising the option of ECS with IVF patients might be perceived as promoting an expensive add-on, which led them to avoid discussing it altogether. We have to be quite cautious not to come across as [...] trying to sell expensive products through people's IVF journeys that may not be necessary. SH29, genetic counsellor, private fertility clinic Some participants noted that the UK’s restrictions on advertising [1] meant that potential test takers were often unaware of ECS and therefore unlikely to request it, unlike in the US, where clinics and pharmaceutical companies are allowed to advertise such services. Others pointed to broader differences in the regulatory environment as influencing uptake. For example, some participants reported that in Spain, clinicians are legally obliged to inform patients about available interventions that could reduce the risk of having a child with a genetic condition. As a result, there seems to be much greater awareness amongst IVF couples in Spain, along with a higher take-up of ECS. In addition to the reticence of clinicians to offer the test, participants reported that some IVF patients were reluctant to use ECS when offered. An explanation for this was the timing of the test and the associated wait for results. ECS was sometimes perceived as potentially delaying the start of fertility treatment, leading some patients to decline it for that reason. They also get frustrated because genetic testing takes too long. The results take four weeks, at least, and it holds up the IVF. Because if you're going to do it, [...] you should wait to start the IVF cycle till you've got the results. SH05, genetic counsellor, fertility clinic Another explanation, as suggested by one stakeholder, was that some IVF patients did not perceive a need for ECS, since they would not have considered using it had they been conceiving without fertility treatment. If you're a couple conceiving naturally, most people would never think to have carrier screening. So, for people who are just going through IVF without using a donor, then they think, well, why would they need to have that test. SH10b, genetic counsellor, test provider The impact of a positive result was also mentioned as a potential challenge for IVF patients, since participants reported that couples were usually reluctant to use a donor, and they may not be able to afford or access costly PGT. Finally, the significant cost of ECS may constrain couples’ ability to pursue additional IVF cycles if their budget is limited and they want to spend the money on multiple IVF cycles instead. ECS in gamete donation ECS is also used in the context of gamete donation to test donors and sometimes recipients. In the UK, very few clinics and gamete banks test donors with ECS [2] , although we have identified one UK clinic chain and one UK sperm bank that test all their donors. Donors are not required to agree to ECS (Elson et al, 2025). However, over 60 UK clinics, including 20 NHS clinics, import gametes from abroad (HFEA, 2025), especially from the US, Denmark, and Spain. When donor carrier status is available and a carrier-positive donor is selected, ECS or a ‘match test’ for the specific pathogenetic variants carried by the donor may be offered to recipients. Where the donor’s results are known, match testing may be available via the recipients’ fertility clinic, or via the donor bank, at a cost of around £500–650. Match testing is also available via the NHS on very rare occasions under strict conditions (we found one example of funding being agreed by the local Integrated Care Board when the variant frequency was above 1/70). Participants reported that an increasing number of couples and single people having gamete donation now use match tests to check if they carry the same variants as their selected donor. Match testing (i.e. testing for variants carried only by the donor) was usually preferred by participants interviewed to full ECS testing (i.e. testing both the donor and recipient with a full panel of variants) for recipients, due to the stress, delay and complications caused by full testing if the recipient was found to be positive for a (different) genetic variant that the donor had not been tested for. It was simpler to test the recipient for the donor’s known genetic variants than to go back to the bank for this information or ask the donor to be re-tested. We're not just offering every woman who's using a sperm donor to have a full panel, it just feels that's going to cause much more trouble. SH05, genetic counsellor, fertility clinic Interestingly, a significant number of participants working in gamete donation saw ECS as a way to protect clinics from legal liability, should a child be born with a genetic condition that could have been avoided by ECS testing. This seemed especially significant in a context of what participants saw as the increasingly consumer-oriented attitudes of IVF patients in the UK fertility sector. The reason the clinics who screen the donor are doing it is to minimise the risk to them legally of any negative outcome. Because they want to say we've screened to the nth degree, and so they're doing it for their risk, not to benefit the patient really. SH06, clinician, fertility clinic One participant working as a clinician in a national chain of fertility clinics commented that the liability risks were more important in the setting of gamete donation, so ECS was particularly useful and needed there. It was a policy [...] that, you want to go for an egg donation programme in our clinic, you need to go for testing. Because they don't want to take any risks [...] I think it's to cover themselves for liabilities. SH19, clinician Some stakeholders also viewed the use of ECS, particularly in the context of gamete donation, as a way to mitigate genetic risks in cases where one donor's gametes are used across multiple couples. In such scenarios, the potential for transmission is amplified, increasing the number of children who could be affected if a condition is passed on. When you have a gamete donor obviously it's a different situation [from ECS with couples using IVF] because the gamete donor might be matched with many different couples. SH12, clinician, genetics clinic A key advantage of using ECS/match test in gamete donation was that if donor and recipient carried a matching pathogenic variant, it should be possible to change donor and find one without a matching condition. If someone picks a donor who's a carrier of SMA, say, we would just offer targeted testing of that relevant gene. If the result was positive in the recipient, they could then pick a different donor, and it would just involve a reanalysis of the data to look at the new gene that was relevant. SH10a, genetic counsellor, test provider Participants identified a number of limitations that are specific to the context of donor conception. The first one lies in the logistical challenges surrounding the implementation of the test. For example, the cross-border import of gametes from banks and countries with different testing panels and regulations meant that testing the recipient using the same panel as the donor could be difficult if gamete banks abroad used test providers that did not provide tests outside their country. A further problematic issue is that clinics need to set up and provide pre- and post-test genetic counselling. Two participants based in NHS fertility clinics said that it would be difficult to implement match testing for people using gamete donation because of the additional cost of providing the test and genetic counselling. They did not have resources to do the testing, or any genetic counsellors on their team. Another participant in the private sector explained that this is why her clinic chain had rejected the option of offering ECS or match testing to their patients. It’s expensive, it opens a can of worms. And it's another layer of information for patients, recipients, to have to navigate and understand, and who has the resources for that. SH03, fertility clinic The lack of clarity and specificity in the HFEA Code of Practice (2023) and the professional societies’ guidelines regarding the use of donors who had tested positive was also raised. The varying interpretations of the HFEA's requirements meant that some clinicians felt themselves to be in somewhat precarious situations and that this has led to variable practices among fertility clinics. My sperm bank versus the other sperm banks who choose to distribute and sell carrier donors, we all do it slightly differently, which makes it very confusing for the recipients and the treating physicians. If there was clarity in the regulation about what is to be done, then [...] we’ll all do very similar things. Which would thus make it easier to understand for the recipients and the physicians. SH32, senior manager, gamete bank One clinician also added that using a donor was challenging enough, without having to consider the possibility of having a child with a genetic condition. This is why, although his clinic offered ECS to couples having IVF with their own gametes, they did not discuss match testing with patients having gamete donation. As with couples using IVF, timing and costs were also seen as a deterrent to using ECS in this context: ECS can significantly add to already costly donor IVF and also results in a delay in starting treatment, which participants reported as a key issue for some patients. One of the test provider participants explained the impact: You're delaying everything by a month in reality if they do get a positive hit. Because if you test the donor, [...], you wait a month, they're positive. You need to test the recipient, you need to wait another month. They've got their IVF cycle booked, they've got their medications planned, they booked their time off work, etc. So, there's a bit of a rationale there. SH28a, business manager, test provider These different reasons were mentioned to explain why match testing was not always accepted when offered, and in some cases, why it was not offered to gamete recipients at all. Conclusion In the context of growing availability of ECS in the UK, mostly in the private sector, we offer new data and understandings of how this technology is being offered and perceived by professional stakeholders. This paper has described how ECS is embedded differently across three main routes in the UK, which we have referred to as ECS for non-IVF conception, ECS for IVF conception and ECS for gamete donation. In each route, ECS is delivered by a variety of providers and through distinct settings and modalities, each of which generates its own specific set of concerns and implications. This paper has also examined the perspectives of key professional, policy, and commercial stakeholders on the value of the ECS for specific purposes. Our findings show that participants provided nuanced and context-specific perspectives on the usefulness, advantages, and challenges of ECS, depending on the route through which this technology is offered in the UK. The findings of this paper support the findings of other authors regarding the benefits of ECS to carrier couples (whether using their own gametes, or donor conception) in reducing the chance of having a child with a genetic condition and the related possibility of a termination of pregnancy for medical reasons. There were challenges in providing ECS with the right support and information for test-takers and in ensuring care pathways existed for couples with a positive result. The need to pause treatment while testing was completed, and the high cost of testing in the UK, where ECS is not cheap or covered by the NHS or health insurance, were also previously reported barriers. There was also general agreement that the culture around preconception health needed to change, to raise awareness of the option of preconception ECS. Couples not using IVF while participants agreed on the potential usefulness of ECS for prospective parents and supported its availability as a service, they also highlighted significant challenges in reaching this population. One key issue was the absence of a clear point of access for individuals planning a pregnancy and limited motivation to seek it out. Unlike individuals undergoing fertility treatment, who are often offered ECS within a clinical setting that may initiate a broader care pathway, prospective parents in the general parents must actively search for a test provider. Moreover, the wide variety of testing options available can be complex to navigate, particularly in the absence of clear guidance. This becomes even more challenging in the event of a positive result, if no follow-up support is provided. Ensuring access to a high-quality, reliable test emerged as a key challenge in this route in the absence of a coordinated and overarching initiative in place. In the UK, ECS is not available through the NHS, which provides other genetic tests alongside expert interpretation and support. Couples who are using ECS outside of a fertility clinic route, and have no family history of genetic conditions, are not always available with support and information about the implications of the results. This leads test-takers to turn to the NHS for help with positive results, creating a demand on existing services and extending the waiting list at NHS genetics clinics. Couples having IVF IVF was perceived by some participants as a window of opportunity to offer ECS at a point when patients can receive accurate information and appropriate support, reinforcing the views of reproductive healthcare providers in Klein et al.’s study (2024). However, this route is currently available in only a limited number of fertility clinics in the UK. This is largely due to the additional resources required to implement and integrate ECS in practice. Participants’ accounts also highlighted the tensions which arise around the ECS offer in this particular route, both for clinicians and for patients. As couples, particularly if they are older, generally want to get on with treatment as quickly as possible, this creates a difficult balance between maximising the chance of achieving a pregnancy and addressing the potential risks of transmitting a pathogenic genetic variant. Moreover, this route also raises a tension between offering a potential additional source of income for clinics but reducing patients’ ability to afford further rounds of self-funded IVF, meaning that both clinicians and couples may be hesitant to use ECS. Gamete donation In this route, clinicians have been required to address the implications of ECS in the context of gamete donation, mainly as a consequence of the increasing importation of donated gametes from banks that routinely screen their donors. The growing availability of genetically tested gametes has placed pressure on clinics to consider how to manage these results and whether, and how, to communicate them to patients. Moreover, considerable confusion persists around how existing regulations and guidelines should be interpreted in practice, contributing to much uncertainty regarding the use of donors identified as carriers and the implementation of match testing. While match-testing can be beneficial in mitigating the risk of transmitting genetic conditions, particularly in a context where the occurrence of such risks is heightened, as other studies such as Matar et al, 2018 report, its uptake is also being driven by legal and institutional concerns. An increasing number of fertility clinics and gamete banks have begun offering ECS or match testing to recipients, not only as precautionary measure but also as a way to protect themselves from potential liability. While liability had been mentioned in other studies (Klein et al 2024 ), it appears as a significant concern among UK professional stakeholders. Overall, the use of ECS in the UK is marked by a lack of consistency across the routes, with significant variations in cost, access, panel composition, and the level of support for test takers. These disparities are especially marked in the context of direct-to-consumer testing, which some participants reported was being used as a substitute for reproductive genetic testing, due to its lower cost. These challenges are compounded by the absence of clear regulatory oversight. At the time of writing, no single organisation holds formal responsibility for providing leadership or setting standards for ECS. This lack of governance contributes to uneven provision and considerable uncertainty, as decisions about when and how ECS should be offered disparate providers and test-takers. By investigating professional perspectives, the study contributes to a deeper understanding of the specificities of each route, serving distinct needs for clinicians and test-takers, as well as areas of commonality. These insights are relevant not only to the UK but also in other contexts where multiple routes are emerging in parallel. The setting of the UK also results in distinct differences compared to the way ECS is offered in other countries where it is available. As van Dijke et al (2022) pointed out, the healthcare system is one variable that accounts for varying approaches to implementing ECS. For example, in the Netherlands, which has piloted ECS, and Belgium, where ECS is available via regional genetics clinics, a significant proportion of fertility treatment is publicly funded, and patients do not need to choose between paying for ECS and paying for fertility treatment. By comparison, in the UK, most fertility treatment is offered through private clinics, and ECS is only available privately, Patients may need to make financial choices on what they can afford to add to core fertility treatment cycles. Clinics' commercial or financial motives may be more likely to influence practice regarding whether clinics offer ECS or how they manage the use of tested gametes with patients. Consequently, practices vary considerably in ways that are not related to its perceived utility for each route: ECS may be offered as a premium service with a package of support; testing and counselling may be outsourced for efficiency; gamete recipients may be asked not to select carrier donors because the clinic does not offer match tests; or ECS may not be offered if there is no perceived commercial value. In conclusion, these findings suggest that ECS should not be treated as a single, uniform practice. Rather, its framing, implementation and perceived value must be understood in relation to the specific institutional, clinical, and social contexts in which it is situated. This contextual understanding is particularly important for informing the regulation and guidance of the distinct ECS offerings in the UK. Compliance with Ethics Guidelines Declarations Compliance with Ethics Guidelines Conflict of interest C Herbrand, P Borry, L Culley, K Fearon, N Hudson, Z Miedzybrodzka, S Norcross, B Parry, and E van Steijvoort declare that they have no conflict of interest. This project received ethical approval from the Health and Life Sciences Faculty Research Ethics Committee at De Montfort University (Ref 544733). All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study. Contribution statement Conceptualization: All authors; Methodology: All authors; Formal analysis and investigation: CH, KF; Writing - original draft preparation: CH KF; Writing - review and editing: All authors; Funding acquisition: CH PB LC NH ZM SN BP. Data availability The anonymised data that supports the findings of this study will be available from ESRC Re-Share after the PRECAS Project is complete. Funding sources This project is funded by the Economic and Social Research Council ES/W012456/1. Author addresses and affiliations Lorraine Culley, Cathy Herbrand, Nicky Hudson, Kriss Fearon: Centre for Reproduction Research, 0.23 Edith Murphy House, De Montfort University, Leicester, LE1 9BH Pascal Borry, Eva van Steijvoort: Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law, KU Leuven, Kapucijnenvoer 35/3 (box 7001), 3000, Leuven, Belgium Zosia Miedzybrodzka School of Medicine, Medical Sciences, Nutrition and Dentistry, University of Aberdeen, and NHS Grampian North of Scotland Clinical Genetics Service, Clinical Genetics Centre, Ashgrove House Aberdeen Royal Infirmary Foresterhill Campus, Aberdeen AB25 2ZA Bronwyn Parry: ANU College of Arts and Social Science, The Australian National University, Canberra ACT 2600 Australia Sarah Norcross: Progress Educational Trust, 140 Gray's Inn Road, London, WC1X 8AX Corresponding authors Zosia Miedzybrodzka, [email protected] ; Cathy Herbrand [email protected] References Braun, V., Clarke, V., Hayfield, N., Davey, L. and Jenkinson, E., 2023. Doing reflexive thematic analysis. In Supporting research in counselling and psychotherapy: Qualitative, quantitative, and mixed methods research (pp. 19-38). Cham: Springer International Publishing. Callum, P. and Isley, L., 2016. Impact of expanded carrier screening panels on gamete donor screening practices. Fertility and Sterility, 105(2), p.e16. Capalbo, A., de Wert, G., Henneman, L., Kakourou, G., Mcheik, S., Peterlin, B., van El, C., Vassena, R., Vermeulen, N., Viville, S. and Forzano, F., 2024. An ESHG–ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction. Human Reproduction, 39(8), pp.1844-1855. Cho D, McGowan ML, Metcalfe J, Sharp RR. Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals. Hum Reprod. 2013;28(6):1725‐1730. Chokoshvili, D., Vears, D.F. and Borry, P., 2017. Growing complexity of (expanded) carrier screening: direct-to-consumer, physician-mediated, and clinic-based offers. Best Practice & Research Clinical Obstetrics & Gynaecology, 44, pp.57-67. Competitions and Markets Authority, 10 June 2021, Guidance for Fertility Clinics on Consumer Law: Helping fertility clinics comply with their consumer law obligations. (2021). Available at: https://assets.publishing.service.gov.uk/media/60c233e6e90e07438ee574a7/Final_Guidance_for_Clinics__21.pdf [Accessed 18 Jun. 2025]. Drettas, P., Tatanis, V., Spiliopoulou, C., Adonakis, G. and Liatsikos, E., 2023. The influence of expanded carrier screening in assisted reproductive techniques: changed the ‘game’–review. Annals of Medicine and Surgery, 85(5), pp.1811-1815. Elson, J., Drakeley, A., Achilli, C., Canham, N., Kulke, C. and Royal College of Obstetricians and Gynaecologists, 2024. The Use of Expanded Carrier Screening in Reproductive Medicine: Scientific Impact Paper No. 74. BJOG: An International Journal of Obstetrics & Gynaecology, 131(10), pp.e81-e85. Evans, D., Johnson-Ellis, W., Johnson-Ellis, M. and Bakalova, D., 2024. P-569 Reciprocal expanded carrier screening for intended parents and gamete donors: experience of a global surrogacy support network. Human Reproduction, 39(Supplement_1), pp.deae108-904. Franasiak, J.M., Olcha, M., Bergh, P.A., Hong, K.H., Werner, M.D., Forman, E.J., Zimmerman, R.S. and Scott, R.T., 2016. Expanded carrier screening in an infertile population: how often is clinical decision making affected?. Genetics in Medicine, 18(11), pp.1097-1101. Glenn, T.L., Pereira, N., Madeira, J., Maxwell, R.A., Parry, J.P., Mertes, H., Pennings, G. and Lindheim, S.R., 2020. Reproductive endocrinology infertility (REI) specialists’ utilization and attitudes toward expanded carrier screening (ECS) for third-party oocyte donors. The Journal of Obstetrics and Gynecology of India, 70, pp.409-411. Henneman, L., Borry, P., Chokoshvili, D., Cornel, M.C., van El, C.G., Forzano, F., Hall, A., Howard, H.C., Janssens, S., Kayserili, H. and Lakeman, P., 2016. Responsible implementation of expanded carrier screening. European Journal of Human Genetics, 24(6), pp.e1-e12. Herbrand, C., Borry, P., Culley, L., Fearon, K., Hudson, N., Miedzybrodzka, Z., Norcross, S., Parry, B., Eva Van Steijvoort, E. and Wilde, L., 2024. O-231 Offering and regulating expanded carrier screening (ECS) in the UK: an exciting prospect in genetic testing or ‘a can of worms’?. Human Reproduction, 39(Supplement_1), pp.deae108-270. House of Parliament Science and Technology Committee (2021), Direct-to-consumer genomic testing, 2The benefits and risks of direct-to-consumer genomic testing. Available at: https://publications.parliament.uk/pa/cm5802/cmselect/cmsctech/94/9405.htm [Accessed 18/2/2025] Human Fertilisation and Embryology Authority, Code of Practice Edition 9 version 4. (October 2023). Available at: https://portal.hfea.gov.uk/media/yrkn55xa/2024-10-01-hfea-code-of-practice-v9-4.pdf. [accessed 16/6/25] HFEA, nd, Clinics approved for multiple imports from third country suppliers, Available at: https://www.hfea.gov.uk/treatments/explore-all-treatments/importing-and-exporting-sperm-eggs-and-embryos/clinics-approved-for-multiple-imports-from-third-country-suppliers/ [accessed 24/2/25] Jämterud, S.M., Snoek, A., van Langen, I.M., Verkerk, M. and Zeiler, K., 2021. Qualitative study of GPs’ views and experiences of population-based preconception expanded carrier screening in the Netherlands: bioethical perspectives. BMJ open, 11(12), p.e056869. Janssens, S., Chokoshvili, D., Vears, D., De Paepe, A. and Borry, P., 2017. Attitudes of European geneticists regarding expanded carrier screening. Journal of Obstetric, Gynecologic & Neonatal Nursing, 46(1), pp.63-71. Kirk, E.P., Delatycki, M.B., Archibald, A.D., Tutty, E., Caruana, J., Halliday, J.L., Lewis, S., McClaren, B.J., Newson, A.J., Dive, L. and Best, S., 2024. Nationwide, couple-based genetic carrier screening. New England Journal of Medicine, 391(20), pp.1877-1889. Klein, D., van Dijke, I., van Langen, I.M., Dondorp, W., Lakeman, P., Henneman, L. and Cornel, M.C., 2024. Perceptions of reproductive healthcare providers regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study. Reproductive BioMedicine Online, 49(1), p.103857. Martin, J., Rodriguez-Iglesias, B., San, A., Yuting, Y., Jimenez, J., Li, Q., Du, H. and Simon, C., 2015. Development, validation and clinical use of an expanded pan-ethnic preconception carrier genetic screening test in assisted reproductive technology patients and donors. Fertility and Sterility, 104(3), p.e231. Matar, A., Kihlbom, U. and Höglund, A.T., 2016. Swedish healthcare providers’ perceptions of preconception expanded carrier screening (ECS)—a qualitative study. Journal of community genetics, 7(3), pp.203-214 MHRA, Government response to Consultation on the future regulation of IVDs, 2 June 2022, page 108 https://assets.publishing.service.gov.uk/media/62b577f6d3bf7f0b00165a32/Government_response_to_ consultation_on_the_future_regulation_of_medical_devices_in_the_United_Kingdom.pdf MHRA, Implementation of the future regulations, 15 January 2025, https://www.gov.uk/government/publications/implementation-of-the-future-regulation-of-medical-devices/implementation-of-the-future-regulations [accessed 24/02/2025] Pasquier, L., Reyneke, M., Beeckman, L., Siermann, M., Van Steijvoort, E. and Borry, P., 2023. Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review. European Journal of Human Genetics, 31(4), pp.395-408. Payne, M.R., Skytte, A.B. and Harper, J.C., 2021. The use of expanded carrier screening of gamete donors. Human Reproduction, 36(6), pp.1702-1710. Patton, M. Q. (2015). Qualitative research and evaluating methods: Integrating theory and practice (4th ed.). Sage. Porwal, D., Newton, G., Mansour, J. and Dive, L., 2025. Stakeholders’ experiences and perspectives of reproductive genetic carrier screening in gamete donation: a scoping review. Human Reproduction, p.deaf128. Rowe, C.A., Wright, C.F. 2020. Expanded universal carrier screening and its implementation within a publicly funded healthcare service. J Community Genet 11, 21–38. https://doi.org/10.1007/s12687-019-00443-6 Van Audenhove, L. and Donders, K., 2019. Talking to people III: Expert interviews and elite interviews. The Palgrave handbook of methods for media policy research, pp.179-197. van den Heuvel, L.M., van den Berg, N., Janssens, A.C.J., Birnie, E., Henneman, L., Dondorp, W.J., Plantinga, M. and van Langen, I.M., 2023. Societal implications of expanded universal carrier screening: a scoping review. European Journal of Human Genetics, 31(1), pp.55-72. Van Der Hout, S., Holtkamp, K.C., Henneman, L., de Wert, G. and Dondorp, W.J., 2017. Advantages of expanded universal carrier screening: what is at stake?. European journal of human genetics, 25(1), pp.17-21. Van Steijvoort, E., Chokoshvili, D., W Cannon, J., Peeters, H., Peeraer, K., Matthijs, G., & Borry, P. (2020). Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature. Human Reproduction Update, 26(3), 335-355. De Wert G, Dondorp W, Shenfield F, Devroey P, Tarlatzis B, Barri P, Diedrich K, Provoost V, Pennings G. ESHRE task force on ethics and Law22: preimplantation genetic diagnosis. Hum Reprod 2014;29:1610–1617. Footnotes This was jointly produced in the UK in by the Advertising Standards Authority, Competition and Markets Authority and the HFEA. See CMA, 2021 in the references. Genetic testing requirements for gamete donors and recipients are outlined in the HFEA Code of Practice 9.4 Guidance Note 11 v4 Donor recruitment, assessment and screening, Section T52 (i) (2023), which in turn refers to BFS guidance (Clarke et al 2021). There are some mandatory genetic tests, such as cystic fibrosis. Additional Declarations No competing interests reported. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-7273962","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":500082511,"identity":"03902bb1-ff17-4821-acd6-9a58c7b34548","order_by":0,"name":"Cathy Herbrand","email":"","orcid":"","institution":"De Montfort University","correspondingAuthor":false,"prefix":"","firstName":"Cathy","middleName":"","lastName":"Herbrand","suffix":""},{"id":500082512,"identity":"f230384c-c1ce-4336-a289-065e245e62b5","order_by":1,"name":"Kriss Fearon","email":"","orcid":"","institution":"De Montfort University","correspondingAuthor":false,"prefix":"","firstName":"Kriss","middleName":"","lastName":"Fearon","suffix":""},{"id":500082513,"identity":"14cbc48a-457a-4e88-a70a-6b07569ed885","order_by":2,"name":"Pascal Borry","email":"","orcid":"","institution":"KU Leuven","correspondingAuthor":false,"prefix":"","firstName":"Pascal","middleName":"","lastName":"Borry","suffix":""},{"id":500082514,"identity":"65f87a61-cea7-442f-a7db-d01e74096598","order_by":3,"name":"Lorraine Culley","email":"","orcid":"","institution":"De Montfort University","correspondingAuthor":false,"prefix":"","firstName":"Lorraine","middleName":"","lastName":"Culley","suffix":""},{"id":500082515,"identity":"d80b0293-0771-4655-a924-49ac7fab2ff1","order_by":4,"name":"Nicky Hudson","email":"","orcid":"","institution":"De Montfort University","correspondingAuthor":false,"prefix":"","firstName":"Nicky","middleName":"","lastName":"Hudson","suffix":""},{"id":500082516,"identity":"524d34ec-f57c-45a2-9a9b-ba60cf2274f3","order_by":5,"name":"Zosia Miedzybrodzka","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAAu0lEQVRIiWNgGAWjYJCCAwwVDAlAEgwMiNRyhlQtDIxtpGiRb29/eODnPLs8vtsNjB9+MBw2JmxBzxmDg73bkosl7xxgluxhOGxGUAuzRA7DAd5tzIkbbiQwSDMwHLYhqIVNIv3Bwb9z6kFamH8TpYVHIsHgMG/DYZAWNpAthB0mwXPG4LDMsePFkjcS2yx7DNIJex8YYo8/vqmpzuO7kXz4xo8Ka8MGgnoQgLGB6IgcBaNgFIyCUUAAAAArCT8VSZH2lQAAAABJRU5ErkJggg==","orcid":"","institution":"University of Aberdeen","correspondingAuthor":true,"prefix":"","firstName":"Zosia","middleName":"","lastName":"Miedzybrodzka","suffix":""},{"id":500082517,"identity":"eb0181e4-68e1-4d6a-9661-9a69e5b6c33a","order_by":6,"name":"Sarah Norcross","email":"","orcid":"","institution":"Progress Educational Trust","correspondingAuthor":false,"prefix":"","firstName":"Sarah","middleName":"","lastName":"Norcross","suffix":""},{"id":500082518,"identity":"97118182-0d40-4e7d-8661-c423a372ed7a","order_by":7,"name":"Bronwyn Parry","email":"","orcid":"","institution":"ANU College of Arts and Social Science, The Australian National University","correspondingAuthor":false,"prefix":"","firstName":"Bronwyn","middleName":"","lastName":"Parry","suffix":""},{"id":500082528,"identity":"8e53c599-ef91-4659-af4e-816286e47a0b","order_by":8,"name":"Eva Steijvoort","email":"","orcid":"","institution":"KU Leuven","correspondingAuthor":false,"prefix":"","firstName":"Eva","middleName":"","lastName":"Steijvoort","suffix":""}],"badges":[],"createdAt":"2025-08-01 19:23:16","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-7273962/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-7273962/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1007/s12687-026-00882-y","type":"published","date":"2026-04-22T15:57:22+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":107927667,"identity":"56c4679f-df33-4a28-a045-831150c51d3b","added_by":"auto","created_at":"2026-04-27 16:00:54","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":270594,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-7273962/v1/e498835a-11e7-41d0-9183-1c82cf2f9a78.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Routes to expanded carrier screening in the UK: the perspectives of professional stakeholders","fulltext":[{"header":"Introduction","content":"\u003cp\u003eExpanded carrier screening (ECS) is a genetic screening test that can identify an individual\u0026rsquo;s carrier status for a wide range of autosomal recessive and X-linked genetic conditions. This type of screening is increasingly used for reproductive purposes, usually before conception, to evaluate the risk of transmitting pathogenic variants to future children (Martin et al, \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2015\u003c/span\u003e). ECS is being introduced in a growing number of countries and through a variety of routes and providers. While the use of ECS has been explored for specific purposes, e.g. as a reproductive screening tool for the general population (van Steijvoort et al, \u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e2020\u003c/span\u003e), as a factor affecting reproductive decision making for infertile couples (Franasiak et al, \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e2016\u003c/span\u003e), or within the context of gamete donation (Glenn, 2019; Payne et al, \u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e2021\u003c/span\u003e), there remains a lack of published research offering an overview of how ECS is offered via different routes in parallel in the same national context, and the specific opportunities and challenges each route presents from the perspective of professional stakeholders\u0026rsquo; involved in the process. In addition, there is very little data on this topic in the UK context.\u003c/p\u003e\u003cp\u003eMost papers about professional stakeholders\u0026rsquo; views of ECS discuss its clinical use and its general benefits for prospective parents, including increased reproductive autonomy and choice (Henneman et al, \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e2016\u003c/span\u003e; J\u0026auml;mterud et al \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2021\u003c/span\u003e; van der Hout et al, \u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e2017\u003c/span\u003e), reducing the chance of genetic variants being passed down the generations (De Wert et al, \u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e2014\u003c/span\u003e) and the avoidance of the birth of a child with severe, life-changing conditions and the subsequent impact on the family (Matar et al \u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e2016\u003c/span\u003e; van den Heuvel et al \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e2023\u003c/span\u003e). ECS was also perceived by stakeholders as offering the advantages of not being ethnicity based and therefore being more widely accessible (Janssens et al \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2017\u003c/span\u003e; van der Hout et al \u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e2017\u003c/span\u003e). Its routinisation was also seen as potentially reducing the stigma of being a carrier (van der Hout et al \u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e2017\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eThere is a limited literature exploring the contexts of ECS in fertility treatment. Fertility treatment was seen as an opportunity to offer ECS with professional support (Klein et al, \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2024\u003c/span\u003e). Use of ECS can reduce the rate of termination of pregnancy for medical reasons or having a disabled child; several authors regarded this as especially important for patients having IVF, due to the cost and emotional and physical effort of getting pregnant (Cho et al, \u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e2013\u003c/span\u003e; Klein et al \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2024\u003c/span\u003e; Drettas et al, \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e2023\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eSpecific benefits were identified for donor conception. ECS was viewed as a useful matching tool between donors and recipients to avoid creating carrier couples (Klein et al \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2024\u003c/span\u003e) and there is a strong rationale for using it to reduce the chance of genetic conditions in donor-conceived people (Evans et al, \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e2024\u003c/span\u003e). It is also perceived as a measure to minimise the risk of legal liability for clinics (Klein et al \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2024\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eThe literature also discusses professionals\u0026rsquo; views of the challenges and limitations of ECS, including the difficulty in implementing ECS with the right information and support for test takers (Pasquier et al, 2022), the risk of anxiety for test takers (Hoarau et al, 2022), the lack of appropriate care pathways for couples receiving a positive result, and its high cost, which limits access to those who can afford it (Henneman et al, \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e2016\u003c/span\u003e). Healthcare workers working in fertility clinics were not always confident that they would be able to support patients with ECS, highlighting the need for genetics training (van den Heuvel et al, \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e2023\u003c/span\u003e; Porwal et al, \u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e2025\u003c/span\u003e). In the context of fertility treatment with donor gametes, concerns have been raised about the potential decrease in the donor pool if donors carrying genetic variants are excluded (Callum and Isley \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2016\u003c/span\u003e). Due to questions about the level of population-wide risk-reduction for severe but rare genetic conditions and the cost-benefit of ECS, its feasibility as a publicly-available genetic test funded through the NHS (National Health Service) is yet to be established (Rowe and Wright, 2019).\u003c/p\u003e\u003cp\u003eThis paper is the first to describe the distinct routes to ECS which have emerged and coexist in the UK and to consider key stakeholders\u0026rsquo; perspectives on the usefulness, advantages, and challenges of these distinctive routes to ECS in this setting. \u0026lsquo;Route\u0026rsquo; refers here both to a mode of access and a specific context in which ECS is offered. In this respect, the UK presents a particularly compelling case as while ECS is not offered via the NHS, various ECS offerings exist and operate with little regulatory oversight, and no agreed medical pathway or specific strategic plan of delivery, unlike in some other countries where it has been adopted. It can serve as a useful example for other countries where similar distinctive routes to ECS might exist.\u003c/p\u003e\u003cp\u003eHere we explore how ECS is perceived by professional stakeholders, such as clinicians, genetic counsellors, and test providers, and how it is being implemented in the UK, discussing each of the three identified routes in turn: non-IVF conception, IVF couples using their own gametes, and gamete donation.\u003c/p\u003e"},{"header":"Material and Methods","content":"\u003cp\u003eThe data discussed in this paper are drawn from a wider ESRC-funded project examining the emergence of ECS in the UK reproductive landscape and its social, ethical and policy implications. The analysis is based on data drawn from a mapping of ECS offerings in the UK (Herbrand et al., \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e2024\u003c/span\u003e) together with semi-structured online expert interviews (Van Audenhove, L., \u0026amp; Donders, K. \u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e2019\u003c/span\u003e). The mapping involved a comprehensive online search aimed at identifying genetic test companies, UK genetics clinics and UK fertility clinics (private or NHS) based anywhere in the world, that provided ECS testing in the UK or imported donor gametes with ECS test results. The search also sought to gather information on the characteristics of their ECS provision.\u003c/p\u003e\u003cp\u003eInterviews were conducted with a sample of 37 stakeholders involved in the practice, provision, or governance of genomic reproductive technologies in the UK. Patients’ perspectives are not reported in this paper, other than as reported by professionals. All participants were selected due to their professional experience with, or informed perspectives on, ECS practices and policies. We adopted a purposive iterative sampling strategy (Patton, \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e2015\u003c/span\u003e) and identified prospective participants via policy documents, publications, and conferences, and by consultation with the project’s advisory group, coupled with the results of ECS mapping. To ensure a comprehensive range of perspectives, we aimed to recruit stakeholders working in three main sectors relevant to our study, i.e. policy, clinical and commercial sectors, which included individuals from different professions (e.g. clinical geneticists, fertility clinicians, policy specialists) (Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eAn interview guide was developed with the project’s research team and piloted with members of the project advisory board. Interviews explored stakeholders' understanding of and personal position on ECS offerings, their perceived benefits and disadvantages, their recommendations on practice and policy guidelines and when relevant, their experience of using ECS in practice All interviews were conducted online, lasted between 30–60 minutes, and were then audio-recorded, professionally transcribed, checked by the RF and the PI. Transcripts were analysed thematically using inductive thematic codes in NVivo (Braun et al, \u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e2023\u003c/span\u003e).\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cdiv class=\"gridtable\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e\u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003e\u003cb\u003eParticipants\u003c/b\u003e 17 participants had direct experience of offering ECS via one or more routes: 11 participants worked for organisations that offered testing in non-IVF conception, 12 for organisations that offered testing in IVF conception (for couples using their own gametes), and 15 for organisations that offered testing to gamete recipients, including one in the NHS (with ICB agreement and if the donor's condition met NHS criteria). While not all participants had direct experience of offering ECS, they all had the expertise to provide informed opinions about its usefulness across different routes of access and contexts.\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"5\"\u003e\u003c/colgroup\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003ePolicy\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003eFertility/genetic clinics\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c4\"\u003e\u003cp\u003eGenetic companies\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c5\"\u003e\u003cp\u003eTotal\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eGenetic counsellors\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e5 (inc 1 NHS)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\u003cp\u003e2\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c5\"\u003e\u003cp\u003e8\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eClinicians (incl clinical geneticists)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e1 (NHS)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e12 (incl 6 NHS)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\u003cp\u003e2\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c5\"\u003e\u003cp\u003e16\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eEmbryologists\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e2\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c5\"\u003e\u003cp\u003e3\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003ePolicy specialist\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e6\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c5\"\u003e\u003cp\u003e6\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOther\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\u003cp\u003e3\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c5\"\u003e\u003cp\u003e4\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eTotal\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e8\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e21\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e\u003cp\u003e8\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c5\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/table\u003e\u003c/div\u003e\u003cp\u003e\u003c/p\u003e"},{"header":"Perceived usefulness, advantages, and challenges in specific routes to ECS","content":"\u003cp\u003eECS for reproductive purposes is available in the UK through three main routes and delivered in different – though partly overlapping – settings, and presenting their own specificities: non-IVF conception, IVF conception or gamete donation. Participants had contrasting views about in which context ECS was most useful, as this screening test was perceived as presenting different advantages and challenges in each of them.\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cdiv class=\"gridtable\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eFindings summary\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"4\"\u003e\u003c/colgroup\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003eUsefulness of ECS in this route\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003eAdvantages of this route for ECS offer\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c4\"\u003e\u003cp\u003eChallenges of this route for ECS offer\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNon-IVF conception\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e• Increased reproductive autonomy\u003c/p\u003e\u003cp\u003e• Risk mitigation/ prevention\u003c/p\u003e\u003cp\u003e• Preparing the parents for the birth of a child with a condition\u003c/p\u003e\u003cp\u003e• Gives reassurance\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c4\"\u003e\u003cp\u003e• Difficulty to identify and reach out to potential users\u003c/p\u003e\u003cp\u003e• Possible increased users’ anxiety\u003c/p\u003e\u003cp\u003e• Lack of relevant information and appropriate support\u003c/p\u003e\u003cp\u003e• Quality of the test and result\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eIVF conception (using the couple’s own gametes)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e• Avoid further challenges for already vulnerable couples\u003c/p\u003e\u003cp\u003e• Commercial interests\u003c/p\u003e\u003cp\u003e• Reputational benefits for the provider\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e• Easily added to IVF protocol\u003c/p\u003e\u003cp\u003e• Possibility of follow-up treatments in case of positive result\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c4\"\u003e\u003cp\u003e• Clinicians’ reluctance to offer the test if perceived as non-essential or irrelevant\u003c/p\u003e\u003cp\u003e• Concern about being seen to offer add-ons\u003c/p\u003e\u003cp\u003e• IVF patients’ lack of interest in the test\u003c/p\u003e\u003cp\u003e• Challenges resulting from a positive result\u003c/p\u003e\u003cp\u003e• Extra cost and delay added to treatment\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eECS in gamete donation\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e• Risk mitigation tool in a context where transmission is multiplied\u003c/p\u003e\u003cp\u003e• Protects clinics from legal liability\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e• Possibility of changing the donor if a risk is identified\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c4\"\u003e\u003cp\u003e• Logistical challenges when dealing with imported tested gametes\u003c/p\u003e\u003cp\u003e• Need to provide pre- and post-test genetic counselling\u003c/p\u003e\u003cp\u003e• Lack of clear and specific policy guidelines about the use of a positive carrier donor\u003c/p\u003e\u003cp\u003e• Additional challenge to discuss with recipients\u003c/p\u003e\u003cp\u003e• Concerns about delaying the treatment\u003c/p\u003e\u003cp\u003e• Extra cost\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/table\u003e\u003c/div\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eECS for non-IVF conception\u003c/b\u003e\u003c/p\u003e\u003cp\u003eThis route describes couples planning a pregnancy who access ECS outside the context of fertility treatment through private providers. We found that ECS is not offered in the NHS. Our mapping of ECS in the UK identified that this screening test is currently available mainly via ‘physician mediated’ private providers (Chokoshvili et al., \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e2017\u003c/span\u003e) – i.e. test-takers need to get a signature from a doctor before going ahead - as well as being offered direct to consumer without medical intervention (e.g. 23andMe). Tests are available via private genetics clinics, private fertility clinics, and from some independent genetic consultants and other commercial companies (such as private ultrasound clinics). These private providers resell ECS tests from genetic test companies, such as iGenomix (which also sells ECS online to individuals; see below). By contrast, ‘direct to consumer' tests, i.e. without medical supervision, are available online or over the counter, via resellers such as pharmacies. As an example of the complexity of choice for test takers, a national ultrasound company re-sells eight different couples’ ECS tests from three different test providers, ranging from £450 for four conditions, up to £1500 (panel size not described). Some health and ancestry tests integrate some carrier screening, such as 23andMe, which includes testing for 45 variants for £159. One of the fertility clinics offers a package including couple ECS testing for 500 disorders and pre- and post-test counselling, costing £1600; this is aimed at couples who want an ECS test as well as fertility patients. There is little regulation of direct-to-consumer genetic tests and enforcement of regulations on tests sent from outside the UK is very difficult.\u003c/p\u003e\u003cp\u003eAccording to the participants, while the number of so called ‘self-referrals’ was still low, they were on the increase.\u003c/p\u003e\u003cp\u003eI think there's a lot of couples now who just want to come and get this testing done and make sure that they can have a healthy child. SH14, genetic counsellor, private genetics clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003ePrivate genetics clinics were more likely than fertility clinics to be the first point of contact for both prospective parents with no known genetic risk or fertility issues, and ‘at-risk couples’ because of consanguinity, ancestry background or family history.\u003c/p\u003e\u003cp\u003eMost participants we interviewed felt that ECS could be valuable for any couple planning a pregnancy because it increases reproductive autonomy and so it should be made available to couples who wished to pursue it. While the likelihood of being a carrier couple (where both parties are carriers of the same pathogenic variant) is relatively low, a positive result was regarded as meaningful information that the couple may decide to act on.\u003c/p\u003e\u003cp\u003ePeople can decline, obviously. But it allows people to have that reproductive autonomy then, at the end of the day, and prevent births of significant disorders. Which then has, obviously, huge psychological impact for the family for the rest of their lives. SH29, genetic counsellor, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eMost participants also considered that ECS could be useful to mitigate risks and/or prevent the transmission of genetic disorders; in addition, some highlighted its potential to prepare parents for the birth of a child with a genetic condition.\u003c/p\u003e\u003cp\u003eThe advent of preimplantation genetic testing, it offers you an option. And even if you don't want to take that option, it offers you knowledge that might influence what you want to do. SH13, clinician, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eAnother benefit mentioned was that ECS could also provide important reassurance for people who were prompted to take the test because they had friends or family who had a child with a genetic condition, and that had raised their awareness of the potential for themselves.\u003c/p\u003e\u003cp\u003eI find that most of them say, either that they know somebody who had a baby with a genetic condition, and that then made them aware that there's a risk there that they didn't really know about before. SH10b, genetic counsellor, test provider\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eHowever, this route to ECS was also seen as presenting specific challenges and drawbacks. One of the main challenges to the wider use of ECS outside the fertility setting mentioned by participants was a lack of awareness of this screening option among prospective parents. This was attributed, in part, to the difficulty of identifying and reaching people who are planning to conceive, at a stage in their reproductive journey when ECS would be most relevant and when they might be most receptive to the idea of testing.\u003c/p\u003e\u003cp\u003eIt's not like the US where, you know, there's so much awareness, and also there's so much access to it that you could directly approach a commercial company and get tested like that. SH21, clinician, test provider\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eSome participants also feared that ECS testing could, in some cases, make people with a low risk of a positive result unnecessarily anxious.\u003c/p\u003e\u003cp\u003eThe individuals that will choose to have it are individuals who are already worried. [...] They're going to intensely read about those things that usually mean nothing for them. But they're going to be really worried about what they mean. SH06, clinician, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eMoreover, 19 participants had concerns about whether, and how, the test parameters and results, e.g. their scope and limitations, were communicated clearly to participants, especially when ECS was taken direct-to-consumer. If they had a result that was positive or that they simply could not interpret, participants worried that users may not have easy access to counsellors.\u003c/p\u003e\u003cp\u003eA lot of the online companies and the direct consumer companies will say, please see a genetic counsellor if this happens. Well, they don't provide it themselves, they don't employ genetic counsellors themselves. SH05, genetic counsellor, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eImportantly, while ECS is not available routinely via the NHS, staff working for the NHS reported that direct-to-consumer and online tests have created new challenges for them by causing a significantly increased workload. For example, several participants mentioned that NHS genetics services were burdened by appointment requests from people with direct-to-consumer genetic test results, including from ECS. Prospective couples with a positive result would also contact them to be referred for further treatment, such as PGT-M, or for match tests in the context of gamete donation (see below).\u003c/p\u003e\u003cp\u003eThis is a good thing for the NHS in a way, because it shows that people do trust the NHS when they want to have an unbiased opinion from the public service. But it is a burden we are not able to cope with. SH12, clinical geneticist, NHS genetics clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eSeveral participants, in particular those working in the NHS, were also concerned about the quality of online ECS tests, especially their lack of accreditation, as well as that of their results.\u003c/p\u003e\u003cp\u003eAnd the robustness of the testing, anything that's direct-to-consumer, I always worry about the transparency, and what platform have they used and how reliable are the results. SH09, clinical geneticist, NHS genetics clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eAnother geneticist from the NHS said that the direct-to-consumer test results she had been asked to interpret included genetic variants that were not disease-causing.\u003c/p\u003e\u003cp\u003eThe fact that they're reporting things which aren't variants as variants, or things that aren't disorders as, ‘he's a carrier for this thing’. And the extreme difficulty of interpreting a variant interpretation with no family history, no information. SH15, clinical geneticist, NHS genetics clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eThis type of result was felt to lead to needless anxiety for test-takers and additional work for the genetics team, who had to re-analyse and interpret otherwise harmless results.\u003c/p\u003e\u003cp\u003e\u003cb\u003eECS for IVF couples using their own gametes\u003c/b\u003e\u003c/p\u003e\u003cp\u003eECS can also be offered to IVF couples using their own gametes. In the UK, our mapping shows that this type of offer is provided via a small number of private fertility clinics and some private independent genetic counsellors by referral from a fertility clinic. Fertility clinics either arranged their own counselling and support, or if they didn’t have the resources for this, outsourced it to a genetic testing company or an independent genetic counsellor. Depending on the providers, both partners may have ECS simultaneously or one partner (usually the woman, to include X-linked conditions) tests with ECS and the other has a ‘match test’ for the variant(s) identified in the partner before starting a cycle. The cost for this type of testing ranges from £1000-£1500 and, in this setting, it is usually offered via fertility clinics or by reproductive genetic test providers. Fertility clinics are regulated by the HFEA, which, however, does not regulate the offer of ECS.\u003c/p\u003e\u003cp\u003eWhile ECS was not yet widely available in UK fertility clinics, some participants believed that one of the benefits of using it in this context was to avoid further challenges for prospective parents who were already vulnerable, by increasing the likelihood of a healthy live birth. This was especially important in the context of IVF because each cycle was already stressful and expensive.\u003c/p\u003e\u003cp\u003eI've seen people try for 10 years to have a baby, and then have a baby that's affected with a genetic problem. And it's huge, it's always a tragedy [...] So, the idea that maybe you can reduce that risk by doing some extended carrier screening is something that I'm intrinsically comfortable with. SH13, clinician, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eOne of the key perceived advantages of this route was that ECS could be easily offered and added to their IVF protocol, when couples were already in the clinic and receptive to information.\u003c/p\u003e\u003cp\u003eIt's kind of a window of opportunity to incorporate prevention of recessive genetic diseases. SH19, clinician, genetic test provider\u003c/p\u003e\u003cp\u003eSo given that we are already applying a medical intervention [...] If there is a tool that could prevent a very, very serious condition, even though the condition is probably very infrequent, so why wouldn’t you apply it. SH20, clinician\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eMoreover, for IVF couples who had a positive ECS result, follow-on treatments were already available in some clinics (such as Preimplantation Genetic Testing (PGT-M), which enables testing embryos for a specific genetic condition and selecting non-affected embryos for implantation).\u003c/p\u003e\u003cp\u003eFor some clinicians, offering ECS to IVF patients was therefore seen as having commercial value for fertility clinics, not only through the sale of the test itself, but also by creating additional opportunities to offer PGT-M. Conversely, another test provider speculated that clinics that did not offer PGT may not provide ECS to IVF couples because they could not offer follow-on treatment if there was a positive result, and the couple would need to go elsewhere for their treatment.\u003c/p\u003e\u003cp\u003eI just wonder, for the clinics who can’t offer PGT, are they worried that the result might mean that those patients don't go ahead with their treatment for that particular clinic potentially. SH10b, genetic counsellor, test provider\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eIn another clinic, offering ECS to IVF couples was done for reputational reasons: they wanted to be able to provide any service that patients might want, even if the uptake and profitability was low.\u003c/p\u003e\u003cp\u003eIt's something we feel that we have to be able to offer if patients want it. Because we've always prided ourselves in this clinic that we can do everything. SH13, clinician, private fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eParticipants nonetheless identified several challenges they believed limited the uptake of ECS among IVF patients. These included: a lack of communication from clinicians about the test; the urgency couples felt to proceed quickly with treatment; limited patient interest in the test; the cost of the test itself; and the potentially expensive and complex follow-up in the event of a positive result.\u003c/p\u003e\u003cp\u003eA first key issue identified was the lack of communication from clinicians regarding the availability of ECS. For instance, two participants working with IVF patients said they would only offer it to couples who asked or were selective about when they mentioned it.\u003c/p\u003e\u003cp\u003eIt's not something that we put out there just as a general conversation with IVF patients. [...] People will have to explicitly ask for it to have it. The times I've brought it up is when I've seen a patient for another reason, for example, to discuss PGT-A testing, and they tell me they're consanguineous, for example, then I would strongly recommend it. SH29, genetic counsellor, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eClinicians often held divergent views about who the test would be most appropriate for. Some, for instance, considered ECS to be particularly relevant in the context of gamete donation, but not for couples using their own gametes. Others chose not to mention the test during the initial fertility consultation, believing that patients were already overwhelmed by the amount of essential information presented at that stage.\u003c/p\u003e\u003cp\u003eA few also expressed concerns that raising the option of ECS with IVF patients might be perceived as promoting an expensive add-on, which led them to avoid discussing it altogether.\u003c/p\u003e\u003cp\u003eWe have to be quite cautious not to come across as [...] trying to sell expensive products through people's IVF journeys that may not be necessary. SH29, genetic counsellor, private fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eSome participants noted that the UK’s restrictions on advertising\u003csup\u003e[1]\u003c/sup\u003e meant that potential test takers were often unaware of ECS and therefore unlikely to request it, unlike in the US, where clinics and pharmaceutical companies are allowed to advertise such services. Others pointed to broader differences in the regulatory environment as influencing uptake. For example, some participants reported that in Spain, clinicians are legally obliged to inform patients about available interventions that could reduce the risk of having a child with a genetic condition. As a result, there seems to be much greater awareness amongst IVF couples in Spain, along with a higher take-up of ECS.\u003c/p\u003e\u003cp\u003eIn addition to the reticence of clinicians to offer the test, participants reported that some IVF patients were reluctant to use ECS when offered. An explanation for this was the timing of the test and the associated wait for results. ECS was sometimes perceived as potentially delaying the start of fertility treatment, leading some patients to decline it for that reason.\u003c/p\u003e\u003cp\u003eThey also get frustrated because genetic testing takes too long. The results take four weeks, at least, and it holds up the IVF. Because if you're going to do it, [...] you should wait to start the IVF cycle till you've got the results. SH05, genetic counsellor, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eAnother explanation, as suggested by one stakeholder, was that some IVF patients did not perceive a need for ECS, since they would not have considered using it had they been conceiving without fertility treatment.\u003c/p\u003e\u003cp\u003eIf you're a couple conceiving naturally, most people would never think to have carrier screening. So, for people who are just going through IVF without using a donor, then they think, well, why would they need to have that test. SH10b, genetic counsellor, test provider\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eThe impact of a positive result was also mentioned as a potential challenge for IVF patients, since participants reported that couples were usually reluctant to use a donor, and they may not be able to afford or access costly PGT.\u003c/p\u003e\u003cp\u003eFinally, the significant cost of ECS may constrain couples’ ability to pursue additional IVF cycles if their budget is limited and they want to spend the money on multiple IVF cycles instead.\u003c/p\u003e\u003cp\u003e\u003cb\u003eECS in gamete donation\u003c/b\u003e\u003c/p\u003e\u003cp\u003eECS is also used in the context of gamete donation to test donors and sometimes recipients. In the UK, very few clinics and gamete banks test donors with ECS\u003csup\u003e[2]\u003c/sup\u003e, although we have identified one UK clinic chain and one UK sperm bank that test all their donors. Donors are not required to agree to ECS (Elson et al, 2025). However, over 60 UK clinics, including 20 NHS clinics, import gametes from abroad (HFEA, 2025), especially from the US, Denmark, and Spain.\u003c/p\u003e\u003cp\u003eWhen donor carrier status is available and a carrier-positive donor is selected, ECS or a ‘match test’ for the specific pathogenetic variants carried by the donor may be offered to recipients. Where the donor’s results are known, match testing may be available via the recipients’ fertility clinic, or via the donor bank, at a cost of around £500–650. Match testing is also available via the NHS on very rare occasions under strict conditions (we found one example of funding being agreed by the local Integrated Care Board when the variant frequency was above 1/70).\u003c/p\u003e\u003cp\u003eParticipants reported that an increasing number of couples and single people having gamete donation now use match tests to check if they carry the same variants as their selected donor. Match testing (i.e. testing for variants carried only by the donor) was usually preferred by participants interviewed to full ECS testing (i.e. testing both the donor and recipient with a full panel of variants) for recipients, due to the stress, delay and complications caused by full testing if the recipient was found to be positive for a (different) genetic variant that the donor had not been tested for. It was simpler to test the recipient for the donor’s known genetic variants than to go back to the bank for this information or ask the donor to be re-tested.\u003c/p\u003e\u003cp\u003eWe're not just offering every woman who's using a sperm donor to have a full panel, it just feels that's going to cause much more trouble. SH05, genetic counsellor, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eInterestingly, a significant number of participants working in gamete donation saw ECS as a way to protect clinics from legal liability, should a child be born with a genetic condition that could have been avoided by ECS testing. This seemed especially significant in a context of what participants saw as the increasingly consumer-oriented attitudes of IVF patients in the UK fertility sector.\u003c/p\u003e\u003cp\u003eThe reason the clinics who screen the donor are doing it is to minimise the risk to them legally of any negative outcome. Because they want to say we've screened to the nth degree, and so they're doing it for their risk, not to benefit the patient really. SH06, clinician, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eOne participant working as a clinician in a national chain of fertility clinics commented that the liability risks were more important in the setting of gamete donation, so ECS was particularly useful and needed there.\u003c/p\u003e\u003cp\u003eIt was a policy [...] that, you want to go for an egg donation programme in our clinic, you need to go for testing. Because they don't want to take any risks [...] I think it's to cover themselves for liabilities. SH19, clinician\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eSome stakeholders also viewed the use of ECS, particularly in the context of gamete donation, as a way to mitigate genetic risks in cases where one donor's gametes are used across multiple couples. In such scenarios, the potential for transmission is amplified, increasing the number of children who could be affected if a condition is passed on.\u003c/p\u003e\u003cp\u003eWhen you have a gamete donor obviously it's a different situation [from ECS with couples using IVF] because the gamete donor might be matched with many different couples. SH12, clinician, genetics clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eA key advantage of using ECS/match test in gamete donation was that if donor and recipient carried a matching pathogenic variant, it should be possible to change donor and find one without a matching condition.\u003c/p\u003e\u003cp\u003eIf someone picks a donor who's a carrier of SMA, say, we would just offer targeted testing of that relevant gene. If the result was positive in the recipient, they could then pick a different donor, and it would just involve a reanalysis of the data to look at the new gene that was relevant. SH10a, genetic counsellor, test provider\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eParticipants identified a number of limitations that are specific to the context of donor conception. The first one lies in the logistical challenges surrounding the implementation of the test. For example, the cross-border import of gametes from banks and countries with different testing panels and regulations meant that testing the recipient using the same panel as the donor could be difficult if gamete banks abroad used test providers that did not provide tests outside their country. A further problematic issue is that clinics need to set up and provide pre- and post-test genetic counselling. Two participants based in NHS fertility clinics said that it would be difficult to implement match testing for people using gamete donation because of the additional cost of providing the test and genetic counselling. They did not have resources to do the testing, or any genetic counsellors on their team. Another participant in the private sector explained that this is why her clinic chain had rejected the option of offering ECS or match testing to their patients.\u003c/p\u003e\u003cp\u003eIt’s expensive, it opens a can of worms. And it's another layer of information for patients, recipients, to have to navigate and understand, and who has the resources for that. SH03, fertility clinic\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003e The lack of clarity and specificity in the HFEA Code of Practice (2023) and the professional societies’ guidelines regarding the use of donors who had tested positive was also raised. The varying interpretations of the HFEA's requirements meant that some clinicians felt themselves to be in somewhat precarious situations and that this has led to variable practices among fertility clinics.\u003c/p\u003e\u003cp\u003eMy sperm bank versus the other sperm banks who choose to distribute and sell carrier donors, we all do it slightly differently, which makes it very confusing for the recipients and the treating physicians. If there was clarity in the regulation about what is to be done, then [...] we’ll all do very similar things. Which would thus make it easier to understand for the recipients and the physicians. SH32, senior manager, gamete bank\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eOne clinician also added that using a donor was challenging enough, without having to consider the possibility of having a child with a genetic condition. This is why, although his clinic offered ECS to couples having IVF with their own gametes, they did not discuss match testing with patients having gamete donation.\u003c/p\u003e\u003cp\u003eAs with couples using IVF, timing and costs were also seen as a deterrent to using ECS in this context: ECS can significantly add to already costly donor IVF and also results in a delay in starting treatment, which participants reported as a key issue for some patients. One of the test provider participants explained the impact:\u003c/p\u003e\u003cp\u003eYou're delaying everything by a month in reality if they do get a positive hit. Because if you test the donor, [...], you wait a month, they're positive. You need to test the recipient, you need to wait another month. They've got their IVF cycle booked, they've got their medications planned, they booked their time off work, etc. So, there's a bit of a rationale there. SH28a, business manager, test provider\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eThese different reasons were mentioned to explain why match testing was not always accepted when offered, and in some cases, why it was not offered to gamete recipients at all.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eIn the context of growing availability of ECS in the UK, mostly in the private sector, we offer new data and understandings of how this technology is being offered and perceived by professional stakeholders. This paper has described how ECS is embedded differently across three main routes in the UK, which we have referred to as ECS for non-IVF conception, ECS for IVF conception and ECS for gamete donation. In each route, ECS is delivered by a variety of providers and through distinct settings and modalities, each of which generates its own specific set of concerns and implications.\u003c/p\u003e\u003cp\u003eThis paper has also examined the perspectives of key professional, policy, and commercial stakeholders on the value of the ECS for specific purposes. Our findings show that participants provided nuanced and context-specific perspectives on the usefulness, advantages, and challenges of ECS, depending on the route through which this technology is offered in the UK.\u003c/p\u003e\u003cp\u003eThe findings of this paper support the findings of other authors regarding the benefits of ECS to carrier couples (whether using their own gametes, or donor conception) in reducing the chance of having a child with a genetic condition and the related possibility of a termination of pregnancy for medical reasons. There were challenges in providing ECS with the right support and information for test-takers and in ensuring care pathways existed for couples with a positive result. The need to pause treatment while testing was completed, and the high cost of testing in the UK, where ECS is not cheap or covered by the NHS or health insurance, were also previously reported barriers. There was also general agreement that the culture around preconception health needed to change, to raise awareness of the option of preconception ECS.\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eCouples not using IVF\u003c/strong\u003e\u003cp\u003ewhile participants agreed on the potential usefulness of ECS for prospective parents and supported its availability as a service, they also highlighted significant challenges in reaching this population. One key issue was the absence of a clear point of access for individuals planning a pregnancy and limited motivation to seek it out. Unlike individuals undergoing fertility treatment, who are often offered ECS within a clinical setting that may initiate a broader care pathway, prospective parents in the general parents must actively search for a test provider. Moreover, the wide variety of testing options available can be complex to navigate, particularly in the absence of clear guidance. This becomes even more challenging in the event of a positive result, if no follow-up support is provided. Ensuring access to a high-quality, reliable test emerged as a key challenge in this route in the absence of a coordinated and overarching initiative in place.\u003c/p\u003e\u003c/p\u003e\u003cp\u003eIn the UK, ECS is not available through the NHS, which provides other genetic tests alongside expert interpretation and support. Couples who are using ECS outside of a fertility clinic route, and have no family history of genetic conditions, are not always available with support and information about the implications of the results. This leads test-takers to turn to the NHS for help with positive results, creating a demand on existing services and extending the waiting list at NHS genetics clinics.\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eCouples having IVF\u003c/strong\u003e\u003cp\u003eIVF was perceived by some participants as a window of opportunity to offer ECS at a point when patients can receive accurate information and appropriate support, reinforcing the views of reproductive healthcare providers in Klein et al.\u0026rsquo;s study (2024). However, this route is currently available in only a limited number of fertility clinics in the UK. This is largely due to the additional resources required to implement and integrate ECS in practice. Participants\u0026rsquo; accounts also highlighted the tensions which arise around the ECS offer in this particular route, both for clinicians and for patients. As couples, particularly if they are older, generally want to get on with treatment as quickly as possible, this creates a difficult balance between maximising the chance of achieving a pregnancy and addressing the potential risks of transmitting a pathogenic genetic variant. Moreover, this route also raises a tension between offering a potential additional source of income for clinics but reducing patients\u0026rsquo; ability to afford further rounds of self-funded IVF, meaning that both clinicians and couples may be hesitant to use ECS.\u003c/p\u003e\u003c/p\u003e\u003cp\u003e\u003cstrong\u003eGamete donation\u003c/strong\u003e\u003cp\u003eIn this route, clinicians have been required to address the implications of ECS in the context of gamete donation, mainly as a consequence of the increasing importation of donated gametes from banks that routinely screen their donors. The growing availability of genetically tested gametes has placed pressure on clinics to consider how to manage these results and whether, and how, to communicate them to patients. Moreover, considerable confusion persists around how existing regulations and guidelines should be interpreted in practice, contributing to much uncertainty regarding the use of donors identified as carriers and the implementation of match testing. While match-testing can be beneficial in mitigating the risk of transmitting genetic conditions, particularly in a context where the occurrence of such risks is heightened, as other studies such as Matar et al, 2018 report, its uptake is also being driven by legal and institutional concerns. An increasing number of fertility clinics and gamete banks have begun offering ECS or match testing to recipients, not only as precautionary measure but also as a way to protect themselves from potential liability. While liability had been mentioned in other studies (Klein et al \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2024\u003c/span\u003e), it appears as a significant concern among UK professional stakeholders.\u003c/p\u003e\u003c/p\u003e\u003cp\u003eOverall, the use of ECS in the UK is marked by a lack of consistency across the routes, with significant variations in cost, access, panel composition, and the level of support for test takers. These disparities are especially marked in the context of direct-to-consumer testing, which some participants reported was being used as a substitute for reproductive genetic testing, due to its lower cost. These challenges are compounded by the absence of clear regulatory oversight. At the time of writing, no single organisation holds formal responsibility for providing leadership or setting standards for ECS. This lack of governance contributes to uneven provision and considerable uncertainty, as decisions about when and how ECS should be offered disparate providers and test-takers.\u003c/p\u003e\u003cp\u003eBy investigating professional perspectives, the study contributes to a deeper understanding of the specificities of each route, serving distinct needs for clinicians and test-takers, as well as areas of commonality. These insights are relevant not only to the UK but also in other contexts where multiple routes are emerging in parallel.\u003c/p\u003e\u003cp\u003eThe setting of the UK also results in distinct differences compared to the way ECS is offered in other countries where it is available. As van Dijke et al (2022) pointed out, the healthcare system is one variable that accounts for varying approaches to implementing ECS. For example, in the Netherlands, which has piloted ECS, and Belgium, where ECS is available via regional genetics clinics, a significant proportion of fertility treatment is publicly funded, and patients do not need to choose between paying for ECS and paying for fertility treatment. By comparison, in the UK, most fertility treatment is offered through private clinics, and ECS is only available privately, Patients may need to make financial choices on what they can afford to add to core fertility treatment cycles. Clinics' commercial or financial motives may be more likely to influence practice regarding whether clinics offer ECS or how they manage the use of tested gametes with patients. Consequently, practices vary considerably in ways that are not related to its perceived utility for each route: ECS may be offered as a premium service with a package of support; testing and counselling may be outsourced for efficiency; gamete recipients may be asked not to select carrier donors because the clinic does not offer match tests; or ECS may not be offered if there is no perceived commercial value.\u003c/p\u003e\u003cp\u003eIn conclusion, these findings suggest that ECS should not be treated as a single, uniform practice. Rather, its framing, implementation and perceived value must be understood in relation to the specific institutional, clinical, and social contexts in which it is situated. This contextual understanding is particularly important for informing the regulation and guidance of the distinct ECS offerings in the UK.\u003c/p\u003e\u003cp\u003e\u003cb\u003e Compliance with Ethics Guidelines\u003c/b\u003e\u003c/p\u003e"},{"header":"Declarations","content":"\u003ch2\u003eCompliance with Ethics Guidelines\u003c/h2\u003e\n\u003ch3\u003eConflict of interest\u003c/h3\u003e\n\u003cp\u003eC Herbrand, P Borry, L Culley, K Fearon, N Hudson, Z Miedzybrodzka, S Norcross, B Parry, and E van Steijvoort declare that they have no conflict of interest.\u003c/p\u003e\n\u003cp\u003eThis project received ethical approval from the Health and Life Sciences Faculty Research Ethics Committee at De Montfort University (Ref 544733).\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eAll procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.\u003c/p\u003e\n\u003ch3\u003eContribution statement\u003c/h3\u003e\n\u003cp\u003eConceptualization: All authors; Methodology: All authors; Formal analysis and investigation: CH, KF; Writing - original draft preparation: CH KF; Writing - review and editing: All authors; Funding acquisition: CH PB LC NH ZM SN BP.\u003c/p\u003e\n\u003ch3\u003eData availability\u003c/h3\u003e\n\u003cp\u003eThe anonymised data that supports the findings of this study will be available from ESRC Re-Share after the PRECAS Project is complete.\u003c/p\u003e\n\u003ch3\u003eFunding sources\u003c/h3\u003e\n\u003cp\u003eThis project is funded by the Economic and Social Research Council ES/W012456/1.\u0026nbsp;\u003c/p\u003e\n\u003ch3\u003eAuthor addresses and affiliations\u003c/h3\u003e\n\u003cp\u003eLorraine Culley, Cathy Herbrand, Nicky Hudson, Kriss Fearon:\u003c/p\u003e\n\u003cp\u003eCentre for Reproduction Research, 0.23 Edith Murphy House, De Montfort University, Leicester, LE1 9BH\u003cbr\u003e\u0026nbsp;\u003c/p\u003e\n\u003cp\u003ePascal Borry, Eva van Steijvoort:\u003c/p\u003e\n\u003cp\u003eDepartment of Public Health and Primary Care, Centre for Biomedical Ethics and Law, KU Leuven, Kapucijnenvoer 35/3 (box 7001), 3000, Leuven, Belgium\u003c/p\u003e\n\u003cp\u003eZosia Miedzybrodzka\u003c/p\u003e\n\u003cp\u003eSchool of Medicine, Medical Sciences, Nutrition and Dentistry, University of Aberdeen, and NHS Grampian North of Scotland Clinical Genetics Service, Clinical Genetics Centre, Ashgrove House Aberdeen Royal Infirmary Foresterhill Campus, Aberdeen AB25 2ZA\u003c/p\u003e\n\u003cp\u003eBronwyn Parry:\u003c/p\u003e\n\u003cp\u003eANU College of Arts and Social Science, The Australian National University, Canberra ACT 2600 Australia\u003c/p\u003e\n\u003cp\u003eSarah Norcross:\u003c/p\u003e\n\u003cp\u003eProgress Educational Trust, 140 Gray\u0026apos;s Inn Road, London, WC1X 8AX\u003c/p\u003e\n\u003ch3\u003eCorresponding authors\u003c/h3\u003e\n\u003cp\u003eZosia Miedzybrodzka, [email protected]; Cathy Herbrand [email protected]\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n \u003cli\u003eBraun, V., Clarke, V., Hayfield, N., Davey, L. and Jenkinson, E., 2023. Doing reflexive thematic analysis. In Supporting research in counselling and psychotherapy: Qualitative, quantitative, and mixed methods research (pp. 19-38). Cham: Springer International Publishing.\u003c/li\u003e\n \u003cli\u003eCallum, P. and Isley, L., 2016. Impact of expanded carrier screening panels on gamete donor screening practices. Fertility and Sterility, 105(2), p.e16.\u003c/li\u003e\n \u003cli\u003eCapalbo, A., de Wert, G., Henneman, L., Kakourou, G., Mcheik, S., Peterlin, B., van El, C., Vassena, R., Vermeulen, N., Viville, S. and Forzano, F., 2024. An ESHG\u0026ndash;ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction. Human Reproduction, 39(8), pp.1844-1855.\u003c/li\u003e\n \u003cli\u003eCho D, McGowan ML, Metcalfe J, Sharp RR. Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals. Hum Reprod. 2013;28(6):1725‐1730.\u003c/li\u003e\n \u003cli\u003eChokoshvili, D., Vears, D.F. and Borry, P., 2017. Growing complexity of (expanded) carrier screening: direct-to-consumer, physician-mediated, and clinic-based offers. Best Practice \u0026amp; Research Clinical Obstetrics \u0026amp; Gynaecology, 44, pp.57-67.\u003c/li\u003e\n \u003cli\u003eCompetitions and Markets Authority, 10 June 2021, Guidance for Fertility Clinics on Consumer Law: Helping fertility clinics comply with their consumer law obligations. (2021). Available at: https://assets.publishing.service.gov.uk/media/60c233e6e90e07438ee574a7/Final_Guidance_for_Clinics__21.pdf [Accessed 18 Jun. 2025].\u003c/li\u003e\n \u003cli\u003eDrettas, P., Tatanis, V., Spiliopoulou, C., Adonakis, G. and Liatsikos, E., 2023. The influence of expanded carrier screening in assisted reproductive techniques: changed the \u0026lsquo;game\u0026rsquo;\u0026ndash;review. Annals of Medicine and Surgery, 85(5), pp.1811-1815.\u003c/li\u003e\n \u003cli\u003eElson, J., Drakeley, A., Achilli, C., Canham, N., Kulke, C. and Royal College of Obstetricians and Gynaecologists, 2024. The Use of Expanded Carrier Screening in Reproductive Medicine: Scientific Impact Paper No. 74. BJOG: An International Journal of Obstetrics \u0026amp; Gynaecology, 131(10), pp.e81-e85.\u003c/li\u003e\n \u003cli\u003eEvans, D., Johnson-Ellis, W., Johnson-Ellis, M. and Bakalova, D., 2024. P-569 Reciprocal expanded carrier screening for intended parents and gamete donors: experience of a global surrogacy support network. Human Reproduction, 39(Supplement_1), pp.deae108-904.\u003c/li\u003e\n \u003cli\u003eFranasiak, J.M., Olcha, M., Bergh, P.A., Hong, K.H., Werner, M.D., Forman, E.J., Zimmerman, R.S. and Scott, R.T., 2016. Expanded carrier screening in an infertile population: how often is clinical decision making affected?. Genetics in Medicine, 18(11), pp.1097-1101.\u003c/li\u003e\n \u003cli\u003eGlenn, T.L., Pereira, N., Madeira, J., Maxwell, R.A., Parry, J.P., Mertes, H., Pennings, G. and Lindheim, S.R., 2020. Reproductive endocrinology infertility (REI) specialists\u0026rsquo; utilization and attitudes toward expanded carrier screening (ECS) for third-party oocyte donors. The Journal of Obstetrics and Gynecology of India, 70, pp.409-411.\u003c/li\u003e\n \u003cli\u003eHenneman, L., Borry, P., Chokoshvili, D., Cornel, M.C., van El, C.G., Forzano, F., Hall, A., Howard, H.C., Janssens, S., Kayserili, H. and Lakeman, P., 2016. Responsible implementation of expanded carrier screening. European Journal of Human Genetics, 24(6), pp.e1-e12.\u003c/li\u003e\n \u003cli\u003eHerbrand, C., Borry, P., Culley, L., Fearon, K., Hudson, N., Miedzybrodzka, Z., Norcross, S., Parry, B., Eva Van Steijvoort, E. and Wilde, L., 2024. O-231 Offering and regulating expanded carrier screening (ECS) in the UK: an exciting prospect in genetic testing or \u0026lsquo;a can of worms\u0026rsquo;?. Human Reproduction, 39(Supplement_1), pp.deae108-270.\u003c/li\u003e\n \u003cli\u003eHouse of Parliament Science and Technology Committee (2021), Direct-to-consumer genomic testing, 2The benefits and risks of direct-to-consumer genomic testing. Available at: https://publications.parliament.uk/pa/cm5802/cmselect/cmsctech/94/9405.htm [Accessed 18/2/2025]\u003c/li\u003e\n \u003cli\u003eHuman Fertilisation and Embryology Authority, Code of Practice Edition 9 version 4. (October 2023). Available at: https://portal.hfea.gov.uk/media/yrkn55xa/2024-10-01-hfea-code-of-practice-v9-4.pdf. [accessed 16/6/25]\u003c/li\u003e\n \u003cli\u003eHFEA, nd, Clinics approved for multiple imports from third country suppliers, Available at: https://www.hfea.gov.uk/treatments/explore-all-treatments/importing-and-exporting-sperm-eggs-and-embryos/clinics-approved-for-multiple-imports-from-third-country-suppliers/ [accessed 24/2/25]\u003c/li\u003e\n \u003cli\u003eJ\u0026auml;mterud, S.M., Snoek, A., van Langen, I.M., Verkerk, M. and Zeiler, K., 2021. Qualitative study of GPs\u0026rsquo; views and experiences of population-based preconception expanded carrier screening in the Netherlands: bioethical perspectives. BMJ open, 11(12), p.e056869.\u003c/li\u003e\n \u003cli\u003eJanssens, S., Chokoshvili, D., Vears, D., De Paepe, A. and Borry, P., 2017. Attitudes of European geneticists regarding expanded carrier screening. Journal of Obstetric, Gynecologic \u0026amp; Neonatal Nursing, 46(1), pp.63-71.\u003c/li\u003e\n \u003cli\u003eKirk, E.P., Delatycki, M.B., Archibald, A.D., Tutty, E., Caruana, J., Halliday, J.L., Lewis, S., McClaren, B.J., Newson, A.J., Dive, L. and Best, S., 2024. Nationwide, couple-based genetic carrier screening. New England Journal of Medicine, 391(20), pp.1877-1889.\u003c/li\u003e\n \u003cli\u003eKlein, D., van Dijke, I., van Langen, I.M., Dondorp, W., Lakeman, P., Henneman, L. and Cornel, M.C., 2024. Perceptions of reproductive healthcare providers regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study. Reproductive BioMedicine Online, 49(1), p.103857.\u003c/li\u003e\n \u003cli\u003eMartin, J., Rodriguez-Iglesias, B., San, A., Yuting, Y., Jimenez, J., Li, Q., Du, H. and Simon, C., 2015. Development, validation and clinical use of an expanded pan-ethnic preconception carrier genetic screening test in assisted reproductive technology patients and donors. Fertility and Sterility, 104(3), p.e231.\u003c/li\u003e\n \u003cli\u003eMatar, A., Kihlbom, U. and H\u0026ouml;glund, A.T., 2016. Swedish healthcare providers\u0026rsquo; perceptions of preconception expanded carrier screening (ECS)\u0026mdash;a qualitative study. Journal of community genetics, 7(3), pp.203-214\u003c/li\u003e\n \u003cli\u003eMHRA, Government response to Consultation on the future regulation of IVDs, 2 June 2022, page 108 https://assets.publishing.service.gov.uk/media/62b577f6d3bf7f0b00165a32/Government_response_to_\u003cbr/\u003econsultation_on_the_future_regulation_of_medical_devices_in_the_United_Kingdom.pdf\u003c/li\u003e\n \u003cli\u003eMHRA, Implementation of the future regulations, 15 January 2025, https://www.gov.uk/government/publications/implementation-of-the-future-regulation-of-medical-devices/implementation-of-the-future-regulations [accessed 24/02/2025]\u003c/li\u003e\n \u003cli\u003ePasquier, L., Reyneke, M., Beeckman, L., Siermann, M., Van Steijvoort, E. and Borry, P., 2023. Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review. European Journal of Human Genetics, 31(4), pp.395-408.\u003c/li\u003e\n \u003cli\u003ePayne, M.R., Skytte, A.B. and Harper, J.C., 2021. The use of expanded carrier screening of gamete donors. Human Reproduction, 36(6), pp.1702-1710.\u003c/li\u003e\n \u003cli\u003ePatton, M. Q. (2015). Qualitative research and evaluating methods: Integrating theory and practice (4th ed.). Sage.\u003c/li\u003e\n \u003cli\u003ePorwal, D., Newton, G., Mansour, J. and Dive, L., 2025. Stakeholders\u0026rsquo; experiences and perspectives of reproductive genetic carrier screening in gamete donation: a scoping review. Human Reproduction, p.deaf128.\u003c/li\u003e\n \u003cli\u003eRowe, C.A., Wright, C.F. 2020. Expanded universal carrier screening and its implementation within a publicly funded healthcare service. J Community Genet 11, 21\u0026ndash;38. https://doi.org/10.1007/s12687-019-00443-6\u003c/li\u003e\n \u003cli\u003eVan Audenhove, L. and Donders, K., 2019. Talking to people III: Expert interviews and elite interviews. The Palgrave handbook of methods for media policy research, pp.179-197.\u003c/li\u003e\n \u003cli\u003evan den Heuvel, L.M., van den Berg, N., Janssens, A.C.J., Birnie, E., Henneman, L., Dondorp, W.J., Plantinga, M. and van Langen, I.M., 2023. Societal implications of expanded universal carrier screening: a scoping review. European Journal of Human Genetics, 31(1), pp.55-72.\u003c/li\u003e\n \u003cli\u003eVan Der Hout, S., Holtkamp, K.C., Henneman, L., de Wert, G. and Dondorp, W.J., 2017. Advantages of expanded universal carrier screening: what is at stake?. European journal of human genetics, 25(1), pp.17-21.\u003c/li\u003e\n \u003cli\u003eVan Steijvoort, E., Chokoshvili, D., W Cannon, J., Peeters, H., Peeraer, K., Matthijs, G., \u0026amp; Borry, P. (2020). Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature. Human Reproduction Update, 26(3), 335-355.\u003c/li\u003e\n \u003cli\u003eDe Wert G, Dondorp W, Shenfield F, Devroey P, Tarlatzis B, Barri P, Diedrich K, Provoost V, Pennings G. ESHRE task force on ethics and Law22: preimplantation genetic diagnosis. Hum Reprod 2014;29:1610\u0026ndash;1617.\u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Footnotes","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003e This was jointly produced in the UK in by the Advertising Standards Authority, Competition and Markets Authority and the HFEA. See CMA, 2021 in the references.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003e Genetic testing requirements for gamete donors and recipients are outlined in the HFEA Code of Practice 9.4 Guidance Note 11 v4 Donor recruitment, assessment and screening, Section T52 (i) (2023), which in turn refers to BFS guidance (Clarke et al 2021). There are some mandatory genetic tests, such as cystic fibrosis.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Expanded carrier screening, Preconception genetic test, Qualitative study, Professional stakeholders, Assisted reproductive technology","lastPublishedDoi":"10.21203/rs.3.rs-7273962/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-7273962/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eExpanded carrier screening (ECS) is a genetic test, increasingly used before conception, to assess prospective parents\u0026rsquo; risk of transmitting autosomal recessive and X-linked pathogenic genetic variants to future children.\u003c/p\u003e\u003cp\u003eThis paper is the first to describe the distinct coexisting routes to ECS in the UK, and to consider key professional stakeholders\u0026rsquo; perspectives on the usefulness, advantages and challenges of these distinctive routes in a national context where ECS is almost exclusively available commercially with little regulatory oversight. Data is based on an extensive systematic search and mapping of ECS providers offering tests in the UK, and interviews with 37 stakeholders involved in the practice, provision, or governance of genomic reproductive technologies in the UK.\u003c/p\u003e\u003cp\u003eThis study identifies and describes three distinct, parallel routes where ECS is taken up: non-IVF conception, IVF conception (with couple\u0026rsquo;s own gametes), and gamete donation. We found that these routes served very different needs for clinicians, and identified inconsistency across the routes, with significant variations in cost, access, panel composition, and the level of support for test takers, especially in direct-to-consumer testing. These challenges are compounded by the absence of clear regulatory oversight.\u003c/p\u003e\u003cp\u003eFindings suggest that ECS should not be treated as a single, uniform practice. Rather, its framing, implementation and perceived value must be understood in relation to the specific institutional, clinical, and social contexts in which it is situated. This contextual understanding is particularly important for informing the regulation and guidance of the distinct ECS offerings.\u003c/p\u003e","manuscriptTitle":"Routes to expanded carrier screening in the UK: the perspectives of professional stakeholders","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-08-18 17:29:59","doi":"10.21203/rs.3.rs-7273962/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2026-02-12T15:58:40+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2026-02-12T07:39:47+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"310048907234531455089442190501194061070","date":"2026-01-14T07:30:48+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-09-12T05:49:31+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"181140192113355267543213276295539529983","date":"2025-08-12T10:33:08+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-08-11T08:24:13+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-08-06T06:01:11+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-08-06T06:00:03+00:00","index":"","fulltext":""},{"type":"submitted","content":"Journal of Community Genetics","date":"2025-08-01T19:11:56+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"685c09d5-14cd-4697-a026-8410d27b9f35","owner":[],"postedDate":"August 18th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2026-04-27T16:00:37+00:00","versionOfRecord":{"articleIdentity":"rs-7273962","link":"https://doi.org/10.1007/s12687-026-00882-y","journal":{"identity":"journal-of-community-genetics","isVorOnly":false,"title":"Journal of Community Genetics"},"publishedOn":"2026-04-22 15:57:22","publishedOnDateReadable":"April 22nd, 2026"},"versionCreatedAt":"2025-08-18 17:29:59","video":"","vorDoi":"10.1007/s12687-026-00882-y","vorDoiUrl":"https://doi.org/10.1007/s12687-026-00882-y","workflowStages":[]},"version":"v1","identity":"rs-7273962","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-7273962","identity":"rs-7273962","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}