Parents facing polygenic embryo scores: the ‘best choice of a best life’ and psychological counselling

Abstract

Introduction

Advances in reproductive medicine have revolutionized the way many couples approach conception, making it possible to rely on technology to assist with the process. ARTs, such as IVF, have become increasingly common, providing hope to those who face fertility challenges. As a result, many couples today depend on these technologies to conceive, navigating complex medical procedures that once seemed unimaginable.

At the same time, societal trends have revealed that couples are postponing pregnancy, often due to career, financial, or personal reasons, even as birth rates continue to decline in many countries. This delay in family planning reflects broader social and cultural shifts, where the pressure to ‘have it all’ often leads to delayed parenthood. However, in postponing pregnancy, some couples seem to be placing an increasing emphasis on the pursuit of ‘perfection’ when planning for a child. Advances in reproductive technologies can now offer prospective parents the ability to make decisions not only about the timing of pregnancy but also about genetic factors, potentially influencing traits, health outcomes, and even physical characteristics of their future children.

In this context, we see the emergence of what could be described as a ‘post-mortal’ society, in other words, a society where the limits once imposed by biology, age, and nature are increasingly blurred or challenged by technological advances. In such a world, where technology could provide unprecedented control over the reproductive process, many couples may become more focused on achieving the ideal scenario (i.e. selecting embryos based on genetic predispositions or even potential traits), believing that everything is possible and that there are few, if any, natural limits left. This shift raises profound ethical and societal questions about the implications of striving for perfection in reproduction, as well as the long-term impact of these technologies on individuals and society at large.

The rapid advancements in genome-wide association studies (GWAS) (Torkamani et al., 2018), combined with the ability to derive precise genome-wide genotypes from single-cell samples (Zamani Esteki et al., 2015; Kumar et al., 2022; Treff et al., 2022), have ushered in new possibilities for screening embryos based on their genetic predispositions to common and complex diseases. This progress has led to the development of polygenic embryo screening (PES), also known as preimplantation genetic testing for polygenic diseases (PGT-P), which allows for a more nuanced evaluation of an embryo’s future risk for various conditions. The purpose of PES is to assess an individual embryo’s risk of developing physical health conditions, such as coronary heart disease and type 1 diabetes (Humphries et al., 2010; Pociot, 2017); psychiatric disorders like schizophrenia and depression (van den Berg et al., 2016; Yengo et al., 2018); as well as behavioral traits, such as educational attainment or extraversion. Furthermore, PES can be used to predict non-medical physical characteristics such as height or skin color (Liu et al., 2015; Tam et al., 2019).

The process involves creating in vitro embryos during an IVF cycle, performing biopsies on multiple embryos, and subjecting them to genetic analyses that could potentially assess their risk for a variety of conditions simultaneously. The embryo with the lowest predicted risk for the disease or trait in question is then selected for transfer into the uterus (Lencz et al., 2021).

While this technology is available in the unregulated US market, its introduction has sparked a great deal of concern among researchers, clinicians, and professional organizations (European Society of Human Genetics [ESHG], American College of Medical Genetics and Genomics [ACMG], ESHRE). The primary concern lies in the ethical, societal, and clinical implications of using such screening for embryos, with many experts questioning the long-term effects on both individuals and society. Much of the ongoing debate has focused on the broader clinical downsides and societal harms of PES (Capalbo et al., 2024). However, there has been relatively little focus on the more immediate and personal impacts that PES could have on prospective parents and their future children, especially in terms of how they will make decisions based on the genetic risk information they receive and how they will manage that information within their family.

Perspectives on PES: public opinion and patients’ views

Public opinion on PES, in contrast to the scientific community, has possibly shown greater acceptance of the technology. A recent comprehensive survey in the USA examining public perspectives on PES (Furrer et al., 2024) found that, while initial approval rates were high, support decreased once participants were made aware of the concerns raised by experts and IVF patients. This finding indicates that while the general public might support the concept of PES, they are often unaware of the ethical and clinical complexities involved.

Patient perspectives on PES also vary based on the intended purpose of the procedure. For instance, the survey revealed that when PES was described as a tool for selecting embryos to minimize physical and psychiatric health risks, approval rates were relatively high: 77.7% for physical health conditions and 72.0% for psychiatric conditions. However, approval dropped significantly when it came to selecting embryos based on behavioral traits (36.0%) or physical characteristics (30.3%). When PES was described as a tool to help parents prepare for the future (i.e. by providing information about their future child rather than selecting embryos), public approval increased. This underscores the fact that patients’ attitudes toward PES are fluid and can shift based on how the procedure is framed and its intended use (Furrer et al., 2024).

Despite the growing commercial availability of PES in the USA, there is still a significant lack of clinical data regarding its use in real-world IVF settings. To date, only two genetic laboratories in the USA process PES. Anecdotal evidence suggests that, in some cases, embryos deemed to have higher risk profiles for certain conditions are not used (De Rycke et al., 2022), and new stimulation cycles are initiated. However, there are no published studies to show how clinicians or patients are handling the information provided by PES, and it remains unclear how these choices are being made.

One of the central challenges of PES is its ability to screen for multiple conditions simultaneously, which raises ethical and practical questions (Hammarberg and Tinney, 2006). On the practical side, the sheer number of choices PES offers can result in what is known as ‘choice overload’. Research in behavioral economics suggests that having too many options can overwhelm individuals, leading to frustration and difficulty in making decisions (Hadar and Sood, 2014; Lázaro-Muñoz et al., 2021). In the context of PES, prospective parents may find themselves struggling to choose between embryos with varying risk profiles for different diseases, which can lead to post-decision regret and dissatisfaction (Mogilner et al., 2008; Diehl and Poynor, 2010).

In addition, PES does not typically present a single best option for embryo selection. Instead, it provides a gradient of risk scores for various conditions. This introduces a level of uncertainty into the decision-making process, as no embryo can be guaranteed to be completely free of genetic risks. These types of decisions are known as ‘preference-sensitive’ decisions, meaning they require individuals to weigh the known benefits and harms in the absence of definitive (clinical) evidence about outcomes (Fuscaldo et al., 2007). Physicians must communicate this probabilistic nature of the data clearly to parents to help them make decisions that align with their values.

Moreover, the complexity of PES is heightened when parents must weigh multiple risks for different conditions. For example, an embryo might have a low risk for one disease but a higher risk for another, leaving parents with difficult choices. As a result, comprehensive genetic counselling is essential to guide prospective parents through these decisions. It is equally important that psychological counselling is offered to help parents navigate the emotional and psychological impact of these decisions.

Demographic and cultural differences may significantly influence perceptions of PES among (prospective) parents and their children. Cultural values, religious beliefs, and societal norms could shape attitudes toward genetic interventions, acceptance of uncertainty, and preferences for specific traits or health outcomes. Socioeconomic status and educational background might also affect access to and understanding of PES, potentially limiting its perceived relevance or feasibility for certain populations. Additionally, geographic variations, including differences in healthcare systems and regulatory frameworks, may contribute to diverse perceptions of PES. In general, it is possible to suggest that in individualistic societies, personal autonomy might be prioritized in decision-making, whereas collectivist cultures could place greater emphasis on family or community impacts. These potential variations highlight the importance of culturally sensitive counseling and tailored decision aids to address the diverse values, concerns, and priorities of different populations, ensuring equitable and informed decision-making. At present, research is significantly underdeveloped in these specific aspects. Most studies exploring attitudes toward polygenic risk scores (PRSs) have been conducted in the USA, where findings generally indicate greater support for their use compared to other sociocultural contexts, such as in Europe (Siermann et al., 2024). The clinical application of PRSs for embryo screening remains limited outside the USA, further constraining opportunities to gather user experiences and attitudes. However, a notable instance of embryo selection using PRS has been reported in Singapore (Chin et al., 2024), signaling emerging interest beyond the US context. Additionally, a few studies have explored how specific religious principles may conflict with the scope of PRSs (Chin et al., 2024). Despite this growing interest and ongoing debate, knowledge remains scarce, making it difficult to derive sociocultural-specific insights that reflect global diversity in individual perceptions and attitudes toward PRSs. Future research should focus on a much deeper understanding of the sociocultural, ethical, and religious factors that influence attitudes toward PRSs across diverse global settings to better inform policy and practice.

Overview of decision-making interventions and psychological counseling

One practical intervention that could assist prospective parents considering PES is the use of decision aids. These tools, as outlined by the International Patient Decision Aids Standards (IPDAS) Collaboration (Elwyn et al., 2006; Brouwers et al., 2010), are evidence-based resources designed to help patients make informed and thoughtful decisions (International Patient Decision Aid Standards Collaboration, 2005). Decision aids provide clear information about a specific health condition, the available options, the risks and benefits associated with each option, and any scientific uncertainties. In the case of PES, decision aids could play a key role in helping parents understand the risks and benefits of each option, clarify their own values and preferences, and ultimately make a decision that aligns with their long-term goals (Joseph-Williams et al., 2014; Charles et al., 1997).

The goal of decision aids is to supplement, rather than replace, the counseling provided by clinicians. When used in the context of PES, decision aids can help prospective parents engage more actively in the decision-making process, ensuring that they are well informed about the complexities of their choice. Furthermore, psychological counselling can work in tandem with decision aids to help parents understand the emotional weight of their decisions, including how they might feel about future outcomes, such as an unsuccessful embryo transfer or the potential need to transfer an embryo with a higher risk profile in subsequent attempts.

Psychological counseling can also assist prospective parents in exploring their motivations for using PES and examining these motivations within a therapeutic context. Since many decisions are influenced not only by an analysis of the available evidence but also by deeply held personal values, a counselor can help parents reflect on how their perceptions of risk might be shaping their choices (Provoost et al., 2012). For instance, an individual who underestimates the likelihood of having a child with a specific health condition may be less inclined to choose PES, while someone who overestimates the risks may feel more pressure to use the technology.

From a decision-making perspective, parents must also take into account the possibility that a specific disease, which currently presents a significant challenge, may be treatable or even cured in the future due to advancements in medicine. As medical research and technology continue to progress at a rapid pace, conditions that seem insurmountable today could potentially have effective treatments or cures, influencing decisions regarding family planning, genetic screening, or reproductive choices.

When evaluating the beneficial effects of such testing, we must also consider that an individual’s well-being or predisposition to disease is not solely determined by their genetic background. It is now well established that epigenetic mechanisms can significantly modulate gene expression, meaning that genes alone do not dictate an individual’s future health. These epigenetic changes can be influenced by various environmental factors, including lifestyle, diet, stress, and exposure to toxins, all of which interact with genetic predispositions. Therefore, when considering genetic testing, it is important to recognize the complex interplay between genes and environment in shaping an individual’s health outcomes and how environment can change through generations (Spector, 2012).

Disclosure of genetic test results to children born following PES

Another particularly sensitive and complex aspect of PES, if ever preformed, is how and when to communicate the genetic risk information to the child as they grow up. Unlike more immediate health conditions that require intervention during childhood, the results of possible PES may reveal a predisposition to diseases or traits that might not manifest until adulthood or may never manifest at all. This raises significant questions: should parents disclose this information to their child? If so, when and how should this information be shared? These decisions carry profound implications, not only for the child’s psychosocial development but also for the family dynamics and the trust between parent and child.

Traditional guidelines for predictive genetic testing in minors, which recommend withholding such testing unless there are interventions or treatments that must be initiated during childhood, may provide some insight (Clarke, 1998; De Wert, 1999; Borry et al., 2009). These guidelines are based on two key considerations: the child’s right to self-determination (informational autonomy) and the potential psychosocial harm of knowing one’s genetic risk at a young age. It is argued that children should be allowed to grow up with an ‘open future’, free from the psychological burden that may come with knowledge of a genetic predisposition to a condition they cannot control. For this reason, many experts suggest deferring genetic testing for conditions that do not require childhood intervention until the individual is mature enough to make an informed decision themselves.

However, PES introduces unique challenges to this framework, given the fact that the genetic risk profile would be already known before birth. In cases where a genetic predisposition is already known, especially for common but late-onset or complex diseases like cardiovascular conditions or psychiatric disorders, parents must weigh the pros and cons of early disclosure versus waiting until the child is older. Disclosing genetic risk information too early could lead to anxiety, self-stigmatization, or an altered sense of identity in the child. Children may grow up feeling defined by their genetic risks, or they may interpret their normal childhood experiences (such as mood swings or behavioral changes) as signs of impending illness, which could lead to unnecessary distress.

Conversely, withholding this information until the child reaches adulthood has its own risks. The child may feel a deep sense of betrayal or confusion if they later discover that their parents had knowledge of a genetic risk and did not share it. Family secrets, especially those related to health, can erode trust and lead to strained relationships. The child might wonder why this crucial information was kept from them and may struggle with feelings of mistrust or alienation from their parents. Studies suggest that withholding important health information within a family can foster a climate of secrecy and suspicion, where children sense that something is being hidden, leading to confusion and emotional distress (Oliveri et al., 2018).

The emotional impact of such a decision on both the child and the family should be considered carefully. The questions of when and how to communicate genetic risk information are not only about timing but also about the child’s capacity to understand the information, as well as the parents’ preparedness to have these difficult conversations. For instance, at what developmental stage is a child capable of handling this knowledge? What emotional and psychological tools are necessary for them to process such information in a healthy manner? What support systems, such as counselling or family therapy, should be in place to ensure the child’s well-being? These are crucial considerations that parents must reflect on when deciding whether to disclose possible PES results.

In cases where parents choose to disclose genetic risk information, it is essential that they provide it in a way that is appropriate for the child’s age and maturity level. For younger children, this might involve simplifying the information, focusing on the importance of regular health check-ups, and offering reassurance about the uncertainty of these risks. As the child grows older and is capable of more complex reasoning, the conversation can evolve, allowing for more nuanced discussions about what the genetic risks might mean for their future. In any case, it is important to foster an open dialogue, where the child feels comfortable asking questions and expressing concerns without fear of being misunderstood or judged.

Another dimension to this issue is the broader implications for the child’s identity and future decision-making. Knowing their genetic predispositions could influence how the child views themselves and their life choices. For example, a child who learns they are at increased risk for a psychiatric disorder might feel anxious about their mental health throughout their life, while someone who learns they are at risk for cardiovascular disease may adopt overly cautious or even restrictive lifestyle behaviors at a young age. While these behavioral changes could have positive effects (e.g., encouraging healthy eating or regular exercise), they could also lead to undue stress, anxiety, or even a sense of fatalism, where the child feels that their future is predetermined by their genetic code.

Furthermore, prospective parents must also consider the societal implications of disclosing such information to their child. Will the child feel pressured to meet certain expectations based on their genetic profile? In some cases, knowing their predispositions might lead a child to make certain life choices based on their genetic risk, such as career paths or reproductive decisions, which could have lasting effects on their sense of agency and freedom.

The decision to disclose genetic information also touches on broader ethical questions about reproductive autonomy. If a child knows they are at increased risk for a genetic disorder, will they feel ethically obligated to undergo PES themselves when they choose to have children to avoid passing on the risk? This adds another layer of complexity to the ethical landscape, as the knowledge gained from PES could influence not only the child’s life but also the reproductive decisions they make in adulthood.

To date, there are no studies examining the longitudinal effects of PES on children who grow up with knowledge of their genetic risks. This gap in the literature highlights the need for research into how such knowledge may influence various aspects of their development, including emotional well-being, identity formation, and social interactions. However, insights can be drawn from analogous studies that have examined the impacts of offering genetic testing to children, a topic that has sparked significant debate among health practitioners, researchers, policymakers, and bioethicists (Fanos, 1997; Rhodes, 2006; Haga and Terry, 2009; Parker, 2010).

Critics of disclosures of genetic testing results in asymptomatic children have raised concerns about its potential to negatively affect the child’s psychosocial well-being. These concerns include the possibility of adverse emotional states, such as anxiety or depression, altered self-perception stemming from a sense of vulnerability or ‘genetic determinism’, and disrupted social relationships due to stigmatization or shifts in family dynamics (Wertz et al., 1994; Fanos, 1997; Lessick and Faux, 1998; Tercyak et al., 2000; Malpas, 2006; Richards, 2006). For instance, children who are informed of an increased genetic risk for certain conditions may feel burdened by this knowledge, which could affect their self-esteem and relationships with peers.

On the other hand, proponents of genetic testing in children argue that it may provide psychological and social benefits. These include relief from uncertainty about health risks, opportunities to integrate genetic risk information into an evolving self-concept in a constructive way, and enhanced social support through stronger relationships with family members and friends who share or understand their genetic context (Duncan and Delatycki, 2006; Rhodes, 2006; Wilfond and Ross, 2009; Parker, 2010). For some families, knowledge of genetic risks can foster open communication and proactive health planning, contributing to a sense of empowerment and preparedness.

Given these contrasting perspectives, the long-term impact of PES on children remains an open and critical question. The most recent recommendation from the American Academy of Pediatrics (AAP) and the ACMG suggests that parents or guardians of asymptomatic children should be encouraged to inform their child at an appropriate age unless an intervention initiated in childhood may reduce morbidity or mortality (COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; THE AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; AND LEGAL ISSUES COMMITTEE, 2013). With some assumptions, this can be extended also for the communication of PRS outcomes to children born after PES.

Future research should prioritize understanding how children process and adapt to genetic risk information over time, considering the influence of family dynamics, cultural contexts, and the availability of psychological support. Addressing these questions will be essential for guiding ethical practices and providing families with the tools needed to navigate the complexities of genetic risk disclosure.

Conclusion

Despite some reports suggesting public acceptance of PES, findings indicate that its acceptance and evaluation among patient populations and professionals remain unclear (Capalbo et al., 2024). Therefore, it is essential to provide comprehensive and fully informative counselling whenever PES is potentially considered. Additionally, psychological counseling can be valuable in identifying the primary reasons why patients might require or request the use of PES. Expanding our understanding of the motivations behind requests for PES utilization could play a crucial role in supporting patients during the decision-making process. A deeper insight into these motivations would enable healthcare providers to address the patients’ underlying concerns, offer tailored information, and guide them toward making well-informed choices that align with their personal goals and needs.

Ultimately, parents could benefit from comprehensive psychological counselling to explore the implications of disclosing possible PES results to their children. Such counselling could provide guidance on when to introduce the conversation, how to frame the discussion in a supportive way, and how to manage the emotional reactions of both the child and the parents. Moreover, mental health professionals can help families navigate the evolving nature of this disclosure over time, as the child matures and develops their understanding of the genetic risks.

The decision to communicate possible PES information to the child should be approached with care and thoughtfulness, recognizing that this information does not just affect the prospective parents but will have lasting effects on the child’s emotional well-being, self-identity, and decision-making as they grow. Families must weigh the potential psychological impact of early disclosure against the child’s right to know and participate in decisions about their health. A tailored, well-supported approach, involving both genetic counselling and psychological guidance, can help ensure that the family navigates this complex process with as little distress and as much understanding as possible.

Future research should focus on understanding the demographic, cultural, and psychological factors influencing attitudes toward PES to inform more tailored and equitable counselling approaches should PES ever become a concrete option for prospective parents. Analogous research is also needed to refine strategies for discussing possible PES results with children and balancing the timing and content of disclosure with their developmental needs. Interdisciplinary collaboration among geneticists, psychologists, and ethicists can be crucial in addressing these challenges and supporting families in making informed decisions.

Data availability

The data underlying this article will be shared on reasonable request to the corresponding author.

Acknowledgements

The author acknowledges Antonio Capalbo for highlighting the lack of an overview on the psychological implications of this topic.

Authors’ roles

M.F. conceived and designed the study, searched and interpreted the literature, drafted the article, and approved its final version. D.G. reviewed the medical content of the document. A.M.D.V. reviewed the content regarding the psychological implication of PES. A.P. reviewed the entire document and added important information to the paper.

Funding

No specific funding was sought for the current study.

Conflict of interest

The author has no conflict of interest to declare. No roles were played by sponsors, nor by institutional affiliations, in the research.

References