Genetic carrier screening in gamete donation creates challenges for autonomy, decision-making, confidence, and supply
Stakeholders' experiences and perspectives of reproductive genetic carrier screening in gamete donation: A scoping review. (Porwal, 2025)
Porwal, D., Newton, G., Mansour, J., & Dive, L. (2025). Stakeholders' experiences and perspectives of reproductive genetic carrier screening in gamete donation: A scoping review. Human Reproduction, 00(00), 1–10. https://doi.org/10.1093/humrep/deaf128
Geographic Region: Primarily United States (69% of studies), with additional research from Australia, Belgium, Denmark, Netherlands, and Israel.
Research Question: What are stakeholders' experiences and perspectives with reproductive genetic carrier screening in gamete donation?
Design: A literature search of four electronic databases (Medline, Embase, CINAHL, and Scopus) was conducted in December 2024 with no date restrictions. Data analysis used an iterative process involving summarizing main features of included studies in Excel, developing preliminary synthesis exploring relationships within and between studies, and conducting thematic analysis using NVivo to code data and derive themes, with theme consolidation occurring over multiple discussions among all authors.
Sample: The final sample included 29 articles from the 470 studies initially identified, published between 2008 and 2024, with most (76%) published after 2016. Many studies published after 2016 were presented as peer-reviewed conference abstracts (64%) for which full-text versions were not available. The majority of studies were quantitative (70%) using questionnaire survey methodology, with the remainder consisting of qualitative studies and position papers. Study participants included four key stakeholder groups: gamete donors (individuals who provide sperm, eggs, or embryos for donation), recipients (intended parents using donated gametes including heterosexual couples, LGBTQ+ couples, and single individuals), healthcare professionals (fertility specialists, genetic counselors, and clinic staff providing medical care and counseling), and third-party service providers (gamete banks, donor agencies, and IVF clinics managing donor screening and matching processes). The geographic distribution showed most studies were conducted in the USA (69%), with fewer published in Australia, Belgium, Denmark, Netherlands, and Israel.
Key Findings
Donor attitudes toward genetic screening varied considerably across studies. One study found that genetic carrier screening may reveal clinically significant health results in 1 in 50 donors. While some donors felt comfortable with limited screening (such as four-gene panels), they expressed apprehension about receiving more comprehensive results themselves, even though they were willing to have the results shared with recipient parents. In some studies, donors raised concerns about the necessity of expanding the screening scope, potential long-term psychological consequences of extensive screening, and issues of genetic selectivity. However, other research suggested that a majority of donors held positive attitudes toward carrier screening, with 82.5% wanting to understand their full results.
Recipient parents’ reproductive choices and plans were significantly influenced by genetic carrier screening availability and results. Studies showed that recipients valued genetic screening information and considered it a key factor in both donor selection and choice of third-party service providers, with some selecting specific providers based on more comprehensive screening offerings. Recipients' personal experience with genetic screening and counseling significantly influenced their comfort level with incorporating screening results into donor selection, with those who had undergone screening themselves being more comfortable selecting donors with positive carrier status.
Healthcare professionals' genetics knowledge, skills, and confidence presented significant challenges in genetic carrier screening implementation. While professional guidelines recommend that healthcare professionals adequately support donors and recipients through screening processes, practitioners reported feeling unskilled and inexperienced regarding genetic screening of gamete donors. Healthcare provider have many responsibilities including reviewing family health history to decide what genetic tests to do, explaining genetic test results to donors, and helping recipients understand what it means if a donor carries a genetic condition. However, many providers reported feeling overwhelmed by trying to interpret genetic test results and said that genetic screening should only be offered when the clinical significance of genetic variations is well understood.
Third-party service providers (e.g., gamete banks and programs) faced significant challenges in managing donor eligibility as genetic carrier screening increased carrier detection rates, making it more challenging to maintain adequate donor pool sizes. Providers developed various strategies to address these challenges, including refining exclusion criteria to potentially include donors with positive carrier status, involving recipients more directly in donor selection processes, incorporating additional resources and support for recipients, and conducting additional variant analysis on positive screening results.
Limitations: Review restricted to English-language articles, potentially missing relevant studies using different terminology for genetic carrier screening. Most studies conducted in USA private medical system with donor compensation, limiting applicability to other healthcare systems. Heterogeneity of studies, participant types, and methodologies limited capacity for comparison between studies. No quality assessment performed on included papers, consistent with scoping review methodology. Lack of research on donor-conceived people's perspectives represents significant knowledge gap.
Applications: Research is needed to explore donor-conceived people's perspectives on genetic screening information and how it affects their identity formation, family relationships, and medical decision-making.
Funding Source: Not specified.
Author: Diya Porwal is affiliated with the Graduate School of Health at The University of Technology, Sydney, NSW, Australia. No personal connection to donor conception was identified.
Regulatory Context: This research studied multiple countries that have different laws and guidelines about genetic screening in donor conception.
Related Posts
LGBTQ+ Couples Want Genetic Counseling Support in Family Planning Journey (Bunkelman, 2025)
Diagnosing a genetic disease in a donor‑conceived child: case report and discussion of the ethical, legal, and practical issues (Lemaire, 2024)
Multi-bank study shows the importance of donor genetic testing follow-up (Lockwood, 2024)