The Tension Between Enhancing Reproductive Autonomy and Carrier Responsibility: An Empirical Ethics Analysis of Preconception Expanded Carrier Screening

Abstract

Through identifying “carrier status,” preconception expanded carrier screening aims to provide prospective parents with information about their reproductive likelihood of conceiving a child with a genetic condition. This article presents an empirical ethics analysis of this form of screening, hence combining qualitative interviews with a critical ethical analysis, with the aim of examining ethical aspects of “carriership.” The thematic analysis of the qualitative interviews showed a relationship between responsibility and carriership, and three aspects were identified in what is here called preconceptual reproductive carrier responsibility: a view of the self as genetically at risk, a normative claim about the responsibility to engage with the screening technique in order to prevent suffering, and responsibility as being future-oriented. The article is contextualized against the theory of biomedicalization and feminist ethical perspectives on responsibility as part of a social and cultural practice. It is claimed that responsibility can function regulatively, where socially constructed norms of what counts as responsible action can limit what a couple understands as being required of them. This calls for further reflection on individual autonomy within this screening practice, acknowledging that genetic technology shapes and changes social attitudes to responsibility in relation to reproduction and that couples’ choices are situated within such contexts.

Introduction

Through identifying “carrier status,” expanded carrier screening aims to provide prospective parents with information about their reproductive likelihood of conceiving a child with a genetic condition (Birnie et al., 2021; Plantinga et al., 2016; Sagaser et al., 2023). Carrier screening has transformed from a practice identifying a single or a few genetic conditions among high-risk groups or depending on family history to expanded carrier screening where the screening is offered regardless of ancestry, and the number of conditions possible to screen for has increased (Holtkamp et al., 2017; Kraft et al., 2019). Some providers offer screening for several hundred genetic conditions (Archibald et al., 2022). Expanded carrier screening is a growing practice globally (Delatycki et al., 2020) and can be offered for both autosomal recessive and X-linked conditions (Gregg et al., 2021), pre-conceptually and prenatally (Dive & Newson, 2021b; Kirk et al., 2021). Studies have shown that reasons for accepting preconception expanded carrier screening (PECS) include, for example, prevention and the desire to be well-informed for future reproductive decisions, while those who decline cite concerns such as that the information could cause anxiety (van Tongerloo et al., 2025).

The enhancement of reproductive autonomy is often suggested as the main aim of offering expanded carrier screening (Matar et al., 2020; van der Hout et al., 2019), and this aim forms a central reason for why some professional bodies recommend offering it (American College of Obstetricians and Gynecologists, 2017; Gregg et al., 2021). It has also been suggested that more reproductive choices can be made if the test is offered before conception (van den Heuvel et al., 2024). If a couple were to test positive, the options could include conceiving and being prepared for a child born with a genetic disease, IVF with embryo selection, adoption, or not having children with this partner (Plantinga et al., 2016). This article focuses only on PECS.

The concepts of “carrier” and “carrier couple” are central in the discourse on PECS. For instance, in the context of autosomal recessive diseases, it is often noted that one in 150 couples are a carrier couple. This means that if both partners are carriers of the same autosomal recessive condition, there is a one in four chance that a future child would develop this genetic condition (Delatycki et al., 2020). Prospective parents are merely carriers of the pathogenic variant for the recessive genetic condition and do not exhibit any symptoms themselves. Consequently, they may be unaware of the likelihood until they receive the results of a DNA test (Henneman et al., 2016).

PECS creates many new ethical questions such as what norms and values are connected to “carriership” within this screening practice. In this study, I will present an empirical ethics analysis of PECS from the perspective of genetic professionals and the aim is to examine ethical aspects of “carriership” within PECS. The thematic analysis consists of three themes, namely: “Gaining knowledge about carriership as a prerequisite for determining risk,” “Accountable development—providing a test for the carrier couple,” and “Responsible carriership.” The result of the thematic analysis points to a connection between carriership and responsibility, and based on the empirical results I critically analyze three aspects of what is here called preconceptual reproductive carrier responsibility.

The study is informed by two theoretical frameworks which will be presented in more depth, namely, feminist ethical perspectives on responsibility and theoretical perspectives on different processes of biomedicalization. The choice of these is guided by the empirical findings, as they both—although in different ways—help analyze the implications that broader socio-cultural perspectives and norms have for the ethics of PECS. This includes, for example, how responsibility is negotiated and assigned.

Theoretical Perspectives

The article is contextualized against the theory of biomedicalization (Clarke et al., 2003, 2010), and I follow Clarke et al. in the analysis that different processes of biomedicalization, such as achieving health and identifying risk factors that might lead to future illness, have implications for individual and collective perception of moral responsibility and how to attain these goals (Clarke et al., 2003). In the analysis of the complex and intertwined processes of biomedicalization, Clarke et al. emphasize that technoscience creates a transformation of biomedicine, significantly affecting how medicine and health are perceived and experienced (Clarke et al., 2003, 2010). In a biomedicalized era, the responsibility for health is placed on the individual as well as on populations. Continual surveillance practices, such as screening to prevent future illness and risk assessments, become vital as means for achieving health, hence making possible the fulfilment of a moral obligation. In this process of biomedicalization, the intersection of health, risk, and surveillance is emphasized. “Risk and surveillance mutually construct one another: Risks are calculated and assessed in order to rationalize surveillance, and through surveillance risks are conceptualized and standardized into ever more precise calculations and algorithms” (Clarke et al., 2003, p. 172). Additionally, the view on risk and surveillance is accompanied by an assumption that all humans are at risk even though levels of risk shift within populations (Clarke et al., 2003). Another feature of biomedicalization is the process of “transformations of bodies and identities” (Clarke et al., 2003). This notion underlines how identities are formed and shaped through technoscientific practices and procedures, such as genetic testing, leading to shifts in individual and collective views on identity. One illustration of this is how genomics discourse and practices produce genomics-based identities, creating classifications such as being at “low” or “high” risk. Integrating such knowledge can shape perceptions of identity (Clarke et al., 2003). Furthermore, in order to deepen the discussion on responsibility in this article, I will draw on feminist ethical perspectives which have critically analyzed responsibilities that arise from relations, acknowledging asymmetrical power relations (Walker, 2007). Furthermore, one has examined how responsibility and moral deliberation are embedded in relational and narrative contexts (Lindemann Nelson, 2000) and how views on different responsibilities (present and future) inform decision-making (Ho, 2008; Verkerk, 2019). Feminist ethics also recognizes social and cultural influences on responsibility (Mackenzie, 2018; McLaughlin, 2019).

Methods and Materials

The test that is in focus for this study has been developed as a couple’s test and entails both partners giving a blood sample. The result the couple receives indicates the genetic likelihood a potential future child would run if they were to conceive, without providing individual results. At the time of the interviews, the screening test was offered by specially trained general practitioners, was not covered by insurance for parents with normal risk and was offered for 70 serious early-onset autosomal recessive genetic conditions. Initially, the criteria for conditions screened for were disease severity, meaning early-onset conditions, severe mental and/or physical retardation, severe pain and/or premature death, and untreatable conditions. As noted previously, expanded carrier screening can be offered as a prenatal test, but the focus in this study is only on PECS.

Semi-structured qualitative interviews were conducted with six genetic professionals working on the development and implementation of this PECS test in the Netherlands. The interviewees were invited by email, and the interviews were conducted between February 2020 and May 2020 by the author. Participants were given the opportunity to choose the location for their interview, and all interviews—except one, which was conducted digitally—were conducted in a secluded office space at the participants’ workplaces. This ensured that participants could speak freely without concern about being overheard by colleagues and provided an opportunity to conduct the interview without external disturbances. A semi-structured interview guide was used, allowing interviewees to expand on issues that they saw as important, and follow-up questions were posed in order to gain a deeper understanding of the participants’ descriptions (Wright & Leahey, 2013). The interview guide focused on the following areas: the development of the PECS test, procedures in relation to the PECS test, societal perspectives on PECS, and the future of PECS. The interviews were conducted in English, which was not the native language of either the interviewer or the interviewees. Even if this did not pose any problems, as the interviewees demonstrated a high level of proficiency in English, it can be seen as a limitation as it may have influenced the depth of expression and interpretation. The participants represented a range of professional roles within the field of genetics, while I, as the interviewer, have a background in medical ethics. This dynamic, combined with the fact that we did not share a country of origin, occasionally required clarification—for example, regarding cultural references or genetic explanations. Given that the interviewees were professionals involved in the development and implementation of the PECS test, it is reasonable to assume that they had an interest in how the test would be presented and received and their involvement suggests a belief in its value. Nevertheless, I was struck by the openness and honesty with which they engaged in critical reflection, particularly regarding ethical concerns. After the interviews, I wrote down thoughts, reflections, and questions, for example, regarding which ethical questions that stood out as especially difficult or if there were aspects in the interviews that surprised me. The interviews lasted around 1 hour, were audio recorded, transcribed verbatim, and pseudonymized. The limited number of six interviewees is due to the focus on a specific PECS test, which restricts the number of potential participants. The question on at what point saturation is reached is of great importance in qualitative research. Guest et al. suggest that even a small number of participants can be sufficient for saturation, depending on the characteristic of the group: “[…] typically 6-7 interviews will capture the majority of themes in a homogenous sample” (Guest et al., 2020, p. 13). Researchers also point out that several factors should be considered in the determination of saturation, such as the quality of the data, meaning, for example, the richness of the interviews and the interviewees’ insights and experience with the topic (Morse, 2000). The interviewees in this study had extensive knowledge and expertise in the field, and the interviews were detailed, rich in content, and offered “thick” descriptions (Geertz, 2017). Furthermore, the strength of qualitative research in my view lies in the ability to generate rich material that through theoretical analysis can offer meaningful and contextually grounded insights that can deepen theoretical discussions and contribute to nuanced understandings of complex social and ethical phenomena (Braun & Clarke, 2013).

According to ethics regulations in Sweden, the research does not require ethical review permission. However, the study follows the ethical processes for research involving human subjects and is conducted in accordance with the research ethical principles of the Declaration of Helsinki. The participants were informed in text and orally about the project and gave written informed consent prior to the interview. They were informed that they could end the interview at any time, that participation was voluntary, that confidentiality would be ensured, and that they could withdraw from study participation at any time.

Empirical Ethics

The study’s methodological framework is empirical ethics, a combination of empirical research with ethical analysis (Morberg Jämterud, 2016; Zeiler & de Boer, 2020). This methodology aligns with the feminist bioethical approach in taking “the empirical seriously” (Carter & Entwistle, 2022). The empirical ethical analysis within this article followed a structured process that unfolded in three sequential stages. First was the empirical data collection phase which has been described above. Following this, the study proceeded to a thematic analysis of the empirical material according to Braun and Clarke’s (2006) six steps of thematic analysis: familiarization with data, generating codes, searching for themes, reviewing themes, defining themes, and naming of themes. More concretely this meant that when the data collection was completed, I transcribed the material which also enabled me to familiarize myself with the data. I then read and re-read the transcribed interviews in order to further deepen my sense and knowledge of the material. The coding process was inductive and I coded each interview and created an “initial thematic map” (Braun & Clarke, 2006). It was at this stage that I identified the centrality of “carriership” in the accounts. I then generated themes from the coded material, that is, shared patterns of meaning, and during this phase I also began developing the theoretical framework. Moreover, I had the opportunity to present my preliminary findings at a work-in-progress seminar at my department, which meant that colleagues who are highly skilled in qualitative research and thematic analysis provided constructive feedback and engaged in critical dialogue. This was very helpful in the analytic process—especially given that I was the sole coder of the material. The final stage encompassed an ethical theoretical analysis, integrating the empirical results with ethical analysis, in particular theoretical perspectives on biomedicalization and feminist ethical perspectives on responsibility. Through such a combination of analyses, the goal is to contribute to an ethical discussion on PECS which pays close attention to perspectives and complexities raised in the specific context while providing a critical ethical analysis.

Results

Gaining Knowledge About Carriership as a Prerequisite for Determining Risk

The initial theme focuses on the necessity for the general population to gain knowledge on different forms of genetic carriership and their associated risks.

The genetic professionals underlined the importance of increasing public awareness about the implications of being a carrier. They have identified a significant gap concerning genetic knowledge but explain that in the future, genetics will become “more prominent in normal life,” leading to a better public understanding of carriership. The distinction between being “a carrier” and “a carrier couple” is particularly highlighted by the interviewees in relation to risk. Specifically, being a carrier for an autosomal recessive disease is considered relatively unproblematic, as it does not pose health risks to the individual:

We are all carriers of some autosomal recessive condition, and we don’t know what we are carriers of because it doesn’t have any health implications for our own health.

However, when two individuals choose to reproduce, understanding their carrier status becomes crucial, as their combined carrier status can have significant health implications for their potential offspring. According to genetic professionals, this knowledge is essential for assessing and managing reproductive risk:

Couples in the general population [Dutch context] have approximately a one per cent chance of being a carrier couple. So, both being carriers of the same condition. And only then is there an increased risk for their offspring.

Therefore, the risk of conceiving a child with an autosomal recessive genetic disease arises only when both partners are carriers, and it is seen as important to raise awareness about the implications of being a carrier couple:

Really trying to also maybe communicate or educate people about what this means, what these risks mean for them, for society and that it is a risk that is important for couples and not so much for individuals.

Previously, carrier screening was limited to high-risk groups or families with known genetic conditions, but when screening is available to the entire population, there are no prior indications of carriership for many. Hence, if one does not perceive oneself as being at risk, one might not feel the need to take the test. This contextualizes the quote above, which reflects that educating the population about carrier status and its connection to risk is of vital importance.

In their descriptions of risk, the genetic professionals explain that a carrier couple has a one in four chance of conceiving a child that will develop the autosomal recessive condition that the couple are carriers of.

One in 150 couples are a carrier couple and they have this one in four chance of having this ill child, so for one in 600 you could possibly prevent this suffering.

The quote highlights why these genetic professionals consider it crucial for carrier couples to understand their risk, as it can help prevent potential suffering.

Accountable Development—Providing a Test for the Carrier Couple

The second theme focuses on how the reproductive aim of the PECS test and risk perceptions shape responsible test development, specifically by restricting its use to carrier couples.

Given the potential of expanded panels to screen for numerous genetic conditions, it is essential to establish limits and criteria for what should be tested and which genetic conditions should be included in the PECS test. The professionals emphasize the need for responsible development: “We’re not inventing the test. It’s there already. We’re just trying to make a better version, and a more responsible version.” Initially, the test was designed for “50 diseases that were very serious.” It specifically targets autosomal recessive diseases, which genetic professionals highlight as crucial, as the test’s purpose is to assess the risk of disease in future children: “You focus on autosomal recessive. That is clear, it is only for your children.” The decision to test exclusively for autosomal recessive conditions aligns with the reproductive purpose of the test. The screening test is described as “reproductive screening” and focuses on choice:

The aim or the focus [when developing the test] was on reproductive choice and that we said we want to offer this possibility for people to prevent harm, not just to offer them information on risks they have for themselves, but for reproductive choice only.

The reproductive aim and the enhancement of reproductive autonomy for the experts mean that if prospective parents are informed about the risk of recessive disease in a future child, they can adjust their reproductive plans or be more prepared for a child who might have a genetic condition. This approach is regarded as providing couples with more reproductive options. Hence, it is emphasized that the screening test being developed should only provide results about the risk of genetic disease in a potential child, not the risks for the couple taking the test:

And it could be that one parent is a carrier for one condition and the other parent is a carrier for another condition. This is not meaningful in terms of reproductive decision-making […] So if you think about the sort of clinical question: is there an increased risk of having offspring with an autosomal recessive condition? And the answer that you can give prospective parents is: Well, either you are both carriers [of a specific condition] and then you have an increased risk, or that is not the case.

The term “meaningful” used in the quote thus indicates a particular position. The established reproductive aim of the screening sets boundaries for what kind of knowledge is considered “meaningful” to provide to prospective parents, that they are a “carrier couple,” both being carriers of the same autosomal recessive disease. The term “meaningful” also indicates the accountability of only returning couple-based results, as these results are described as alleviating worries and concerns for couples, rather than providing individual results: “You don’t give the individual results back because people might feel bad about that” and “we know that for your health it doesn’t matter.” And the interviewee continues, “And we know from other studies that these individual results, even though they don’t mean anything, that’s not how people perceive them.” It is also acknowledged that risk can be very difficult for people in general to grasp and that designing a test for a carrier couple has advantages in relation to understanding risk, that it is easier “to conceptualize reproductive risk versus being a carrier.”

In this theme, risk and accountability are closely intertwined. The accountability of the test can be regarded as measured against what the genetic professionals see as a justified amount of knowledge, and the limits for what is justifiable are related to risk. Prospective parents require specific information to assess risk. However, excessive information can lead to unnecessary worry and anxiety. Thus, the test’s accountability is judged by its ability to provide essential knowledge without overwhelming the couple.

Responsible Carriership

The third theme concerns normative dimensions of carriership, namely, being a responsible couple, where the main components are preventing suffering for your potential children and considering what is best for them, while rejecting enhancement. Together, these components create a responsible carriership.

The ethical framework surrounding the PECS test is described to be the enhancement of reproductive autonomy, and minimizing harm and suffering for the potential child and the family:

That is really the idea: giving people the option to decide whether they are capable of looking after a child that is severely disabled. Are they willing and capable of doing that? And you want to offer them that option because it can prevent harm and suffering for both parents and children.

The existence of a technique that can provide prospective parents with knowledge about their carrier status can in turn create certain responsibilities. Being responsible is described as considering taking the test, not necessarily taking the test:

I think that it is your responsibility to consider such options. And not specifically to take the test but at least to consider the option […] And then still you can think: “Yeah, but I’ll get what I get.” Yes, okay, but you considered it.

Some point out that even if the test was obligatory, the parents would not have to act on the results: “So you could make the test obligatory but then that doesn’t mean that the parents have to act upon that,” but also acknowledging that this is not what might be experienced: “But is that really how people feel? That is of course another story.” Even though many of the genetic professionals underline that taking the test is not something parents should feel pressured to do, some point out that not taking the test must be accompanied by “very good reasons.” This indicates that taking the test and gaining knowledge about risk is a responsible act, and anyone who chooses differently needs to defend that position and argue for how this would be a morally reasonable position. If a couple later finds out that they are a carrier couple and have given birth to a child with a genetic disease, this becomes even more pressing since the option now exists that one can prevent suffering:

But of course people will ask you: “But you knew that your child would suffer, why didn’t you choose to prevent it?” Okay, I think you’re allowed to ask people that, but they will have a good answer then. If they don’t have a good answer they didn’t consider it. And then it’s not responsible.

However, some professionals highlight the challenging balance between the autonomous choice to take a test and its relation to the sense of responsibility:

But I mean how free is your choice? Your choice is never free because you are filled with all opinions and stuff you get during your life. […] You feel like you have to. You have an obligation to society.

Using this technology, taking the PECS test, is compared by genetic professionals to other preventive aspects of responsible parenthood, actions connected with giving “your child the best possible chance of a healthy life” and “to give them [the future children] the best start in life.” Being responsible also involves considering the risk for your future child, not just to prevent harm and suffering but also considering other aspects of the child’s possible future experiences and reactions, for example, the possibility that the child may grow up and react negatively to having been born with a genetic condition, blaming the parents for giving them a life with a genetic condition when there were ways to control the risk. The reproductive aim and the aim of preventing possible suffering are considered ethically acceptable reasons for offering this technique. However, couples with other motives, such as enhancement or gender selection, are viewed as less ethical.

It is really about preventing suffering and harm […] also with traits for example they [people] think that everything is possible and people if they can they are interested in having tests for a lot of things […] I mean, of course there are always some people […] who would like to have a girl instead of a boy. They can make sure it happens and they have an abortion if it doesn’t.

However, the genetic professionals emphasize that enhancement is not the issue for prospective parents:

It has never been the case that parents want to have a designer baby because that’s not the issue for the parent. They want a healthy baby and not a designer baby.

Wishing for enhancement or designer babies is then not regarded as a problematic issue.

Discussion

Unpacking Preconceptual Reproductive Carrier Responsibility

Taken together, the themes in the result show a line of thought relating to knowledge, risk, and responsibility and a connection between carriership and responsibility is clear. Based on the thematic analysis, three aspects of what is here termed “preconceptual reproductive carrier responsibility” will be further unpacked and discussed.

The first aspect of preconceptual reproductive carrier responsibility involves a particular view of the self as genetically at risk. In the results, it was shown that the professionals underline the importance of persons in the general public regarding themselves as a potential “carrier couple” if considering to conceive, a concept which in itself is entangled with the conception of risk since if there was no heightened risk of conceiving a child with a genetic disease, there would be no need for the concept of “carrier couple.” It was also shown that genetic literacy on how different forms of carriership relate to risk plays an important role in the descriptions of indicators of the possibility of being a carrier couple when family history or belonging to a high-risk group does not. “Carrier couple” can also be described through the lens of “technoscientific identities” (Clarke et al., 2010), a form of identity that is constructed and formed in the public’s engagement and interaction with new biomedical technologies where risk forms a particular focus in the shaping of the identity. Regarding PECS, the technology itself and a new form of identity is strongly interconnected, as the only way to gain knowledge about one’s carrier status is by taking a PECS test. When PECS is expanded to be offered to the general population, rather than just those with a family history or high-risk groups, the importance of the population perceiving themselves as potential carriers of hereditary disease—knowing one’s carrier status—becomes vital for the technique to fulfil its purpose. Clarke et al. highlight that the perception of risk and surveillance is accompanied by the assumption that all humans are at risk, although levels of risk vary within populations. This view must be internalized by individuals in order to create a responsibility to act on that knowledge (Clarke et al., 2003).

The second aspect of preconceptual reproductive carrier responsibility is the claim that couples ought to engage with the technique since it can prevent suffering. This aligns with previous research on preconception genetic screening tests, where prevention of suffering forms an important justification for offering the test (Raz, 2010). The result pointed to that PECS introduces a moral imperative for couples to engage with the test, even if such engagement takes the minimal form of considering taking the test. Thus, it is not the birth of a severely ill child which is said to be irresponsible but the failure to engage with the test. Hence, even those who do not make use of or do not want to use new medical technologies are drawn into the ethical considerations around these interventions. The couple who do not even to a minimum extent engage with the technique are positioned as not responsible, where irresponsibility and inaction are considered as synonymous (Monteleone, 2020). Furthermore, there is a risk that such a framing enforces compliance with medical technologies, while alternative ways of reasoning that do not align with dominant logics—for example, due to relational and social factors—are marginalized or regarded as irresponsible (Lindemann Nelson, 2000). However, there is a tension here. Some professionals emphasized that couples should not feel pressured to take the test and that merely considering it constitutes responsible action. At the same time, parents are expected to have compelling reasons for opting out, and it was also described that parents could come to be held responsible for their child’s suffering: “But you knew that your child would suffer, why didn’t you choose to prevent it?”. Here, it is also worth observing a connection between temporality and responsibility, as parents who did not consider the PECS test become retroactively responsible for their child’s genetic condition and hence suffering. The outcome of the action chosen by the parents is seen to be within their control, leading to their being held responsible and blamed. Blame is an expression of judgment on wrongdoing, indirectly necessitating clarification of the reasons behind their action. These findings resonate with previous concerns raised by stakeholders regarding how reproductive technologies can generate social consequences (e.g., van den Heuvel et al., 2023). Matar et al. (2019) have shown that stakeholders worried that if participation in screening is framed as a form of reproductive responsibility, that is, couples perceive a societal responsibility to undergo testing, then declining the offer may give rise to experiences of blame and guilt, particularly if the decision later results in the birth of a child with a condition that could have been detected or prevented. It is also worth recalling findings from other reproductive contexts, where research has shown that a moral imperative is often disproportionately placed on women who are expected to manage genetic risks and undergo testing as part of their responsibility for future children’s health (Hallowell, 1999). This also resonates with previous research on how responsibility can be shaped by social expectations and gendered norms, which reinforce existing gendered expectations—for example, in relation to reproduction (Walker, 2007). This highlights the need for further analysis of reproductive technologies in relation to broader asymmetrical power relations and how these can disproportionately burden women.

While the result suggests a moral imperative to engage with PECS, it is also relevant to consider that this may, in part, be shaped by what has been termed the technological imperative, how the mere availability of a technology can create a perceived moral obligation to use it. Research on experiences of prenatal diagnosis shows how technology can create a complex dynamic involving both gratitude for the opportunities it offers and a perceived pressure to make use of it, sometimes shaped by cultural norms such as ideals of good motherhood (McCoyd, 2010). Furthermore, philosophers such as Peter Verbeek highlight the co-shaping and “interweaving of human beings and technology” (Verbeek, 2005, p. 46). This perspective highlights the existential dimensions of technological influence, stressing the importance of reflecting not only on how technologies are used but also on how they shape our identities and moral frameworks. Thus, technologies are not neutral tools: all technological engagements are inherently existential and moral in nature. In the context of PECS, this means, for example, that the technology does not merely offer neutral knowledge in order to make reproductive choices but it also reshapes existential dimensions of those choices.

The third aspect of preconceptual reproductive carrier responsibility, based on the empirical results, is that it is future-oriented and shifts from surveillance of existing subjects to surveillance of potential future generations’ risk of illness. Clarke et al. (2003) claim that an important aspect of biomedicalization is the view that achieving health is a moral obligation for the individual, but also for populations, where different forms of technological surveillance that help identify future risk are used to fulfil that purpose. With screening techniques such as PECS, there is a shift from surveillance relating to existing subjects to surveillance of risk for illness in potential future generations. Becoming aware of pathologies in a potential future child is also connected to biomedical governmentality (Clarke et al., 2003), where individuals become positioned as responsible for active participation in gaining knowledge about themselves—here, by two people discovering whether they are a carrier couple—in order to promote health for future generations. In the result, it was shown that genetic professionals compared taking a PECS test with other preventive aspects of responsible parenthood, actions connected with giving “your child the best possible chance of a healthy life” and “to give them [the future children] the best start in life.” The language used personalizes the reproductive decision, framing it as one that affects a particular future child and follows a rationale that choices made before conception should provide the best possible future for a potential child. However, this discourse and logic stands in contrast to the philosophical concept of the non-identity problem (Parfit, 1984). Hence, PECS can be described as non-person affective intervention since it cannot be said to harm or benefit any particular individual; a carrier couple is only making a decision which influences which individuals that come into existence, but they do not, for example, avoid a genetic condition in a particular child. This points to a tension between philosophical abstraction and practice where the boundaries between potential and actual persons can become blurred. Although PECS is philosophically framed as a non-person affecting intervention, this might not be what is communicated or experienced.

When regarding these results from the perspective of biomedicalization, attention can be drawn to the intersection between “health, risk, and surveillance” (Clarke et al., 2003), where achieving health is the overall goal. In order to achieve this, surveillance and monitoring the risk of disease, that is, identifying risk factors that might lead to future illness, become central and are implemented, for example, through screening practices. Furthermore, the overall goal of achieving health has implications for the individual as responsibility for one’s health is framed as the individual’s obligation. As has been noted by Clarke et al. (2010), the Western health care context often reflects neoliberal principles, emphasizing individual responsibility, self-governance, and the ability to shape and control one’s future.

The Tension Between Enhancing Reproductive Autonomy and Preconception Reproductive Carrier Responsibility

Many claim that the aim of offering PECS is to enhance reproductive autonomy through providing prospective parents with more reproductive choices (Henneman et al., 2016; Schuurmans et al., 2019). The importance of the choice being the couple’s own is often underlined; it should not be imposed on them and should not be a matter of routine as that could hinder their autonomous choice or create undue pressure (de Wert et al., 2021). The discussion on PECS therefore has similarities with discussions on other reproductive techniques in that it “[…] emphasizes the individualistic and private nature of decisions surrounding reproduction” (Ravitsky, 2017, p. 34). However, autonomous decisions are not shaped in a vacuum but influenced by cultural and social norms. This includes, for example, disability rights critique which highlights that genetic testing carries normative assumptions about what kinds of lives that are desirable and that certain practices reflect and reinforce discriminatory attitudes toward disability (Parens & Asch, 2003). These concerns are also addressed in philosophical discussions, such as the expressivist argument claiming that the choice to use technologies aimed at preventing the birth of individuals with certain disabilities can be interpreted as expressing a judgment that such lives are less valuable (Hofmann, 2017).

The offer of PECS can be said to be legitimized as a test that enhances reproductive autonomy, without obligating couples to participate. However, the results in this article highlight certain tensions, results that align with previous research on the entanglement of individual reproductive autonomy and social and cultural norms (Chokoshvili et al., 2018; Dive & Newson, 2022). One such tension lies between the aim of reproductive autonomy and the findings on preconceptual reproductive carrier responsibility. There is a notable discrepancy between the idea that PECS enhances reproductive autonomy without undue pressure and the views on carrier responsibility, which to a certain extent include accusatory rhetoric toward those who do not consider to engage with the PECS test, all within the framework of preventing suffering. In the debate on PECS, the aim of prevention of suffering is to some extent acknowledged but only in the shadow of the overarching aim of enhancing reproductive autonomy. It has been suggested that genetic carrier screening is a moral obligation on the part of the parents as it can reduce suffering (Bonte et al., 2014). A more modest view is that in certain severe cases, prevention could be prioritized over autonomy to reduce the burden of disease on both individual and social levels, even though the authors recognize certain problems with this paradigm (van der Hout et al., 2019):

At the same time, however, we have to be cautious in adopting the prevention paradigm. Even if, in principle, prospective parents may have certain moral responsibilities in relation to PCS, these responsibilities may be overridden by competing moral considerations, such as the emotional and moral burden of taking preventive measures. (van der Hout et al., 2019, p. 576)

The single view on autonomy tends to overshadow the fact that the test is not offered only for the sake of providing people with an autonomous choice; there is another rationale for why this is a justified test to offer, where an underlying understanding is that this technique can prevent suffering and not using it can imply irresponsibility.

Furthermore, views on responsibility can function regulatively. A social understanding of what constitutes responsible parenthood and action can set limits on what a couple perceives as required of them and what is seen as a responsible act (Mackenzie, 2018; Walker, 2007). Bioethicist Jackie Leach Scully notes that social and cultural frameworks can constrain what a person wants to do, as goals are situated within a social and cultural context that informs and shapes our understandings of what we want to do even though the choice made is autonomous in the sense that it is our own (Scully, 2010). Thus, perceptions of norms and a cultural discourse on responsibility for preventing suffering can influence how persons perceive the offer of a PECS test and how this can influence their autonomous choice. These shifts can also be noticed, as in one study on expanded genetic carrier screening showing that 55% agreed with the claim that “mothers had a responsibility to prevent any and all suffering of their offspring” (Pereira et al., 2019, p. 712). This points to the idea that expectations of responsibility may also be tied to specific family relationships (Verkerk, 2019). Previous research has also discussed issues such as if reproductive carrier screening is offered as a routine part of care, couples may then perceive participation as the morally appropriate course of action—even when testing is presented as a choice (Dive & Newson, 2021a). If PECS is perceived as preventing suffering, the rational and responsible choice for a couple would be connected with either taking such a test or at least considering taking it. This perspective calls for further reflection on individual autonomy within the practice of PECS, recognizing that choices are never detached from a socio-cultural context but acknowledging that genetic technology shapes and changes social attitudes to reproduction as well as individual responsibility, and that couples’ reproductive autonomy is situated within such contexts.

Conclusion

PECS can be said to be legitimized through being a test which enhances reproductive autonomy. However, the results in this article suggest there are tensions to be discussed since there is a discrepancy to be considered between, on the one hand, the idea that PECS supports and enhances reproductive autonomy and should be a free choice shielded from undue pressure and, on the other hand, views on couple responsibility and to a certain extent accusatory rhetoric around couples who choose not to engage with the PECS test—all within the framework of preventing suffering. Furthermore, it has been discussed that views on responsibility can function regulatively. A social understanding of what counts as responsible parenthood and responsible action can set limits for what a couple understands as being required of them and what can be seen as a responsible act, shaped by structural and gendered expectations. A deeper discussion is required on how PECS shapes views on responsibility, and what norms and values shape such a responsibility, since this would be more transparent than mainly focusing on reproductive autonomy.