Genomic Testing and Editing of Human Embryos

Genomic technologies are increasingly shaping reproductive medicine, from embryo testing to reduce the transmission of genetic disease and improve reproductive outcomes to emerging proposals for genome editing to correct pathogenic variants. Across these applications, progress is limited by shared challenges in analytical validity, reproducibility, interpretation of uncertainty, and the evidentiary standards required for responsible clinical translation. This Research Topic will highlight rigorous human and medical genomics research that strengthens measurement, benchmarking, reporting, and clinical interpretation frameworks for genomic interventions in human embryos.Key open questions include the detection and interpretation of mosaicism; platform- and pipeline-dependent variability; confirmatory strategies and quality control; and how genomic results should be linked to clinically meaningful endpoints such as implantation, miscarriage, and live birth. The topic also welcomes evidence-based evaluations of polygenic embryo screening, including predictive validity, portability across populations, incremental benefit over standard care, and best practices for communicating uncertainty. For embryo genome editing, we encourage submissions that establish experimental and analytical standards to characterize on-target outcomes and off-target risks, assess mosaicism and complex editing outcomes, and provide functional evidence relevant to therapeutic correction.We also welcome genomics-grounded analyses of proposed embryo enhancement applications, including the limits imposed by polygenicity, small effect sizes, and population diversity, and the evidentiary standards needed to evaluate such claims. We welcome contributions including (but not limited to) analytical and clinical validation studies; inter-laboratory and cross-platform benchmarking; robust interpretation frameworks for mosaicism and uncertainty; harmonized reporting recommendations; and translational frameworks that compare embryo testing, embryo editing, and established reproductive options.Manuscripts should maintain clear relevance to human variation and human genomics, provide reproducible methods, and move beyond single-family case reports without broader methodological insight. Submissions limited to reanalysis of publicly available data without additional validation or clinical grounding, or studies based solely on animal models without direct linkage to human variation and translation, are not considered suitable. Topic editors: Seang Lin Tan, Svetlana Madjunkova, Andrew Shuen Source: https://www.frontiersin.org/research-topics/80103/genomic-testing-and-editing-of-human-embryos