Ethical and social implications of implementing polygenic embryo screening into clinical care: A scoping review

Polygenic embryo screening (PES), or preimplantation genetic testing for polygenic conditions/traits, is an emerging application of polygenic risk scores within in vitro fertilization. Marketed commercially to prospective parents with limited professional guidelines, PES raises ethical and social concerns. To date, no scoping review has synthesized the ethical landscape of PES. Our study addresses this gap by mapping ethical and sociocultural issues across academic literature.

Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, in September 2024, we searched PubMed, Web of Science, and PhilPapers, yielding a total of 399 articles. After abstract screening and full-text review, the final dataset included 54 articles. Using the 4 principles of biomedical ethics - beneficence, autonomy, non-maleficence, and justice-as an a priori codebook alongside inductive thematic coding, we analyzed how PES is ethically evaluated.

Under beneficence, concerns emerged over clinical validity/utility and uncertain net benefit. Autonomy-related discussions emphasized informed consent and counseling challenges, decision-making shaped by incomplete or biased information, appeals to procreative beneficence, tensions surrounding reproductive autonomy, and respect for the autonomy of future offspring. Non-maleficence concerns included pleiotropy, increased medical risks from in vitro fertilization pursued solely for PES, psychological harms, and clinician-driven embryo selection. Justice subthemes included unequal access to PES, fears of eugenics, stigmatization/discrimination, and potential demographic impacts. Sociocultural perceptions addressed distinctions between conditions and traits, definitions of "healthy," and disability and feminist critiques.

Although proponents frame PES as advancing reproductive choice and potential health benefits, critics underscore unresolved scientific limitations and significant ethical and sociocultural concerns. The commercial expansion of PES warrants continued study of its validity/utility and standardized counseling.