Expanded carrier screening (ECS) is being incorporated increasingly into routine reproductive care. However, clinical implementation has outpaced the development of harmonised professional guidelines, resulting in substantial variability in how, when, and to whom ECS is offered. In this context, a campus course on the current landscape of ECS was held in Ghent, Belgium, organised by the ESHRE SIGs in Reproductive Genetics, Ethics and Law, and Psychology and Counselling.
Over three days, speakers and participants discussed the clinical, ethical and psychosocial dimensions of ECS. Three main points were emphasised throughout the event: couple-based counselling is preferable to an individual approach; counselling is needed in every part of the process prior to and following ECS uptake; and evidence-based guidelines are needed to ensure responsible clinical and ethical implementation.
The campus began with an overview of ECS in MAR by Efthymia Constantinou, who presented the results of the ESHRE-ESHG survey on ECS conducted in 2022. The results revealed both limited uptake of ECS and heterogenous practices across centres and countries. Indeed, subsequent speakers reinforced this picture. Cathy Herbrand, Efthytimia Dimitriadou, and Josep Pla Victori illustrated how ECS is implemented differently in the UK, Belgium and Spain, respectively.
Later, Dr Herbrand provided a comprehensive overview of UK practices, presenting the very distinctive ways clinics approach ECS in gamete donation from non-engagement to partial and active engagement. She highlighted that, in the absence of clear guidelines, clinics end up finding their own solutions, leading to variability in practices.
The first day also provided thoughtful perspective on ECS implementation. Eva Van Steijvoort emphasised the importance of a critical appraisal of ECS and reflected on ethical and practical considerations. She reinforced the principle of patient autonomy and highlighted some concerning marketing strategies of commercial ECS providers, reflecting how these may hinder patients’ informed decisions. Advocating for couple-based counselling, Dr Van Steijvoort argued that while individual data are informative, it is ultimately the couple’s combined data that are most relevant for reproductive decision-making, a view that was echoed by other speakers throughout the three days.
Dr Martin Delatycki and Dr Dhruti Babariya explored in further detail the topic of ECS implementation in practice. Dr Delatycki presented the historical background behind the creation of Mackenzie’s Mission, the Australian reproductive genetic carrier screening programme and its development process, including the method for selecting the genes to include in the panel (1). Dr Babariya empathised the lack of standardisation in ECS panel composition and presented an evidence-based methodology for panel design, detailing the key steps involved in its development.
This campus course provided an in-depth exploration of ECS in gamete donation from a practical, ethical and psychological perspective on the second day. Dorian Accoe highlighted that ECS should not be considered a simple yes-or-no question and depends on the management of results and the variants included in the panel. He raised an important question about managing ECS in sperm donation: should clinics reject donors based on their carrier status or should their genetic information be used to be matched with recipients? On one hand, he argued that rejection may be discriminatory towards individuals carrying certain genes. As such, ECS can also cause harm if not carefully managed. On the other hand, matching allows for the pairing of donors and recipients, avoiding the exclusion of donors with positive results, thereby preventing the shortage of donors.
The matching approach on gamete donation was further explored in the presentation of Mauro Turrini, who shared the Spanish model. Dr Turrini presented the Spanish guidelines for gamete donation, which prioritise matching donor-recipient pairs rather than excluding donors.. Dr Turrini noted the asymmetry between donors and recipients, as donors have no choice regarding ECS uptake. He concluded with a critical reflection on donors’ care, observing that while recipients are treated as patients, donors may be treated as merely providers. Dr Turrini also emphasised the importance of a structured counselling process that should begin before ECS uptake and continue after the screening results are available, a process further explored by Josep Pla Victori.
Josep Pla Victori highlighted the role of the genetic counsellors in ECS, who become even more essential when complexity of the tests is increased (for example when infertility-related gene are included in ECS), stressing its importance beyond the simple delivery of the results and throughout the process. He compared genetic counsellors to translators between three distinct stakeholders: general practitioners, laboratory staff, and patients, each of whom “speaks a different language”.
Annelore Van Der Kelen discussed how interpreting gene panel results can be like opening Pandora’s box. She emphasised that polygenic risk scores (PRS) currently account for only a small portion of the observed variability, with meaningful clinical interpretation largely limited to extreme PRS values. She noted that their predictive performance is reduced in non-European populations.
The second day also incorporated an overview of ethical and technical conflicts in PGT-M after ECS by Georgia Kakourou and Malou Heijligers. Dr Kakourou highlighted the shift from reactive to proactive reproductive planning and noted that carrier detection through ECS is a critical first step in identifying couples at risk, with ECS increasingly expanding the indications for PGT-M. Malou Heijligers’ presentation was from the perspective of the Netherlands and focused on ethical and technical challenges arising in PGT-M following ECS.
On day two of the campus, Antonio Capalbo and Dhruti Babariya presented a glimpse of the future. Dr Capalbo reflected on the opportunities and limitations of ECS and argued that preconception genomics may serve as an ideal entry point for preventive genomic medicine.
Dr Babariya discussed the added value of including infertility-related genes in ECS. She posed the question of whether we are ready for broader use of fertility-focused gene panels .Her conclusion was that, for now, evidence remains limited, and although clinicians are on the right path, there is still a long way to go before the clinical utility and implications of these panels are fully understood.
The last day of the course explored the impact of ECS on reproductive intention. Lidewij Henneman discussed patients’ expectations and reproductive intentions. She presented common misconceptions, such as the belief among some couples that ECS can identify the cause of infertility (2). Dr Henneman cautioned against opportunistic screening and discussed the challenges associated with handling additional findings, noting that while ECS has high potential utility, there are many challenges for responsible implementation.
Juliana Pedro focused on the care of donors. Her presentation analysed whether they are provided with sufficient information and counselling, whether they fully understand the potential implications of genetic findings, and how incidental findings should be managed responsibly. She said that donor’s autonomy is limited because they must comply with mandatory testing to donate. Moreover, Juliana emphasised that donors should receive adequate counselling to support their understanding, decision-making and psychosocial adjustment to both the donation process and possible findings.
Dr Martin Delatycki wrapped up the campus course by showing how the theory of ECS can translate into practice as demonstrated by the results from Mackenzie’s Mission. Dr Delatycki discussed reproductive and psychosocial outcomes, highlighted the acceptability of the programme, and reflected on several lessons learned. He concluded that ECS is cost-effective and outlined the next steps to establish a fully-funded national ECS programme in Australia.
At a time when evidence remains limited, practices are heterogenous, and clear guidelines are lacking, this campus course offered important reflections for the future implementation of ECS. It provided valuable insights into the clinical, ethical and psychosocial dimensions that must be considered to support a responsible interdisciplinary advancement of the field.
References
1 Kirk, E. P., Ong, R., Boggs, K., Hardy, T., Righetti, S., Kamien, B., Roscioli, T., Amor, D. J., Bakshi, M., Chung, C. W. T., Colley, A., Jamieson, R. V., Liebelt, J., Ma, A., Pachter, N., Rajagopalan, S., Ravine, A., Wilson, M., Caruana, J., Casella, R., … Delatycki, M. B. (2021). Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”). European journal of human genetics : EJHG, 29(1), 79–87. https://doi.org/10.1038/s41431-020-0685-x
2 Frank, C., Laeven, C. H. C., Meulenbroeks, D., Coonen, E., de Die-Smulders, C. E. M., van Golde, R. J. T., Mallens, L. M., Paulussen, A. D. C., Schuurmans, J., & van Osch, L. A. D. M. (2025). Preconception carrier screening in couples seeking IVF: exploring the patient perspective. Reproductive biomedicine online, 50(1), 104452. https://doi.org/10.1016/j.rbmo.2024.104452
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