Expanded carrier screening creates two-tier system in Spanish reproductive medicine
A Perfect Match: Expanded Carrier Screening in Spain’s Gamete Economy (Turrini, 2025)
Turrini, M., Argudo, V., & Pavone, V. (2025). A Perfect Match: Expanded Carrier Screening in Spain’s Gamete Economy. SSM - Qualitative Research in Health, Article 100645. Advance online publication. https://doi.org/10.1016/j.ssmqr.2025.100645
Note: A 2016 Spanish court ruling requiring fertility clinics to inform patients about available genetic screening techniques catalyzed the widespread adoption of ECS in gamete donation, transforming what had been viewed as ethically controversial and clinically unnecessary into standard practice.
Geographic Region: Spain
Research Question: How has expanded carrier screening (ECS) been legitimized, routinized, and integrated within Spain’s assisted reproductive technology sector through genetic matching, and how has this technology contributed to redefining roles, rights, and responsibilities among clinics, donors, and recipients?
Design: Qualitative study that employed an interpretative description approach combining multiple data sources. The researchers conducted a comprehensive document analysis of Spanish legal frameworks, court rulings, professional guidelines from national and international medical associations, scientific publications, and regulatory documents published between 2010 and 2024. Between March and September 2022, the research team conducted in-depth, semi-structured interviews (1-2 hours each) with key stakeholders involved in drafting regulations or implementing ECS. The study also included a systematic website analysis of Spanish fertility clinics selected from official ART registries, examining genetic matching services, carrier screening panels, and marketing materials.
Sample: The interview sample included 12 recognized experts: 4 gynecologists, 3 embryologists, 3 geneticists, 1 biologist, and 1 legal expert. Participants were recruited based on their involvement in scientific publications or regulatory guidelines related to carrier screening in Spain. The website analysis examined 21 private fertility clinics with substantial online presence, randomly selected from official registries. After excluding duplicate entries from clinic chains and facilities with limited online information about genetic testing, 14 clinics provided specific information on genetic matching, carrier screening, or compatibility testing.
Key Findings
Spain has developed a two-tier carrier screening system: mandatory “basic” screening, which covers the five most prevalent recessive and X-linked diseases, is required for all gamete donation, and optional “expanded” screening is offered as a paid add-on in private clinics.
Spain’s professional associations published the world’s first national guidelines dedicated exclusively to “carrier screening in gamete donation” in 2019.
Four main carrier test kits dominate the Spanish market, with panels ranging from over 200 to over 3,000 genes analyzed using whole exome sequencing or next-generation sequencing technologies.
Competition among clinics focuses on the number of genes tested rather than clinical utility, with the panel size becoming a key differentiator and marketing tool.
Genetic matching increases rather than decreases the available donor pool, as carriers of recessive conditions can still be matched with recipients who don’t carry the same variants. The only donors rejected under genetic matching are egg donors carrying X-linked diseases; all other carriers can be kept for matching.
Donors are required to undergo comprehensive genetic screening as a mandatory condition for donation, while recipients retain autonomy over whether to undergo testing themselves.
Some clinics deny donors access to their own test results, require them to pay for results, or only provide results after completing the donation process to discourage donors from seeking services at other facilities.
The term “patient” is routinely used only for recipients, not donors.
Clinics market ECS using concepts like “genetic compatibility” and “quality guarantee,” promoting deterministic views of genetic health, despite experts acknowledging these are marketing terms rather than scientific concepts.
Clinic websites emphasize the number of diseases screened and frame genetic matching as reducing risk of genetic disease transmission, sometimes overstating the degree of protection provided.
Additional matching techniques beyond genetics (personality matching, facial biometrics) are marketed alongside ECS to further personalize donor selection within the anonymity system.
Many clinicians expressed frustration that ECS expansion is driven more by commercial imperatives than clinical necessity, with one noting “more and more mutations are being studied, but proportionally, we have less and less knowledge about what we’re being given”.
Experts acknowledge unavoidable “residual risk” and criticize promotion of zero-risk narratives, with some noting any reproductive process is “an adventure” that entails risks.
There is ongoing debate and calls for standardization to prevent market pressures from undermining clinical priorities and evidence-based care.
Limitations: Small interview sample (n=12), though it represents key figures in Spain’s regulatory landscape. Patients, donors, and donor-conceived individuals were not interviewed.
Applications: Providers should be prepared to address the limitations of ECS and the reality of residual risk, actively countering zero-risk narratives promoted by some clinics. Industry stakeholders should implement practices that support rather than restrict donor access to their own genetic information, recognizing ethical obligations beyond legal compliance.
Funding Source: “Projecting the Future of Genetic Prediction IfGene” (reference: PID2020-115899GB-I00) from the Spanish Ministry of Science, Innovation and Universities (MICIU) and Agencia Estadal de Investigación (AEI/10.13039/501100011033).
Lead Author: Mauro Turrini is a tenured researcher at the Spanish National Research Council at the Institute of Public Goods and Policies. His research focuses on the sociology of science and technology, particularly examining how biomedical technologies are shaped by regulatory frameworks, professional cultures, market forces, and institutional arrangements. No personal connection to donor conception is indicated.
Regulatory Context
National Commission on Human Assisted Reproduction (CNRHA) provides advisory guidance to the Ministry of Health. Spanish Fertility Society (SEF) maintains the SIRHA national donor registry.
Law 14/2006 on Assisted Reproduction provides the primary regulatory framework. ART is classified as “medicina satisfactiva” (elective medicine), which requires heightened informed consent.
Sperm, egg, and embryo donation are all legal and regulated.
Only altruistic donation is allowed. Donors can receive compensation for expenses and inconvenience but not payment for the gametes themselves.
Anonymous donation is mandatory. All donors must remain completely anonymous to recipients and offspring. Identity disclosure is prohibited except in life-threatening medical emergencies. The ROPA method for married female couples is the only exception allowing known donation.
Donor-conceived individuals can obtain general, non-identifying information about their donor at age 18. No legal right to identifying information exists.
Same-sex female couples have access to all donor treatments and can use the ROPA method; single women have full access regardless of sexual orientation or marital status
Offspring limits: 6-child limit per donor, enforced nationally through the SIRHA registry using unique donor codes and Single European Codes since 2017
Parents are not legally required to disclose donor conception to children, though information is recorded in medical records that the child can access as an adult.
Legal parentage: Determined by birth (for the birth mother) and intention/consent (for partners).
Spain is a popular destination for cross-border reproductive care and is the leading European destination for egg donation. Over 300 authorized fertility clinics operate nationwide. Private arrangements are not legal.
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