Patient perspectives after receiving simulated preconception polygenic risk scores (PRS) for family planning

The study investigates patient perspectives on the use of Preimplantation Genetic Testing for Polygenic disease (PGT-P) to select embryos with lower risks for common polygenic diseases. Participant responses and attitudes were evaluated after receiving simulated embryo PRS generated from their personal genetic profile.

Couples seeking OB/GYN or Reproductive Endocrinology and Infertility (REI) care with an interest in genetic risks for common diseases in their prospective children participated. A tool provided PRS scores for 11 conditions, using parental DNA to simulate genetic risks for hypothetical embryos produced during IVF. Participants received counseling, reviewed results online, and completed a post-test survey. Feedback from 90 participants assessed understanding and attitudes toward PRS use in IVF.

Participants were overall more supportive of screening embryos for childhood-onset diseases (80%) compared to adult-onset conditions (63%); however, among specific diseases, participants expressed the greatest interest in screening for adult-onset cognitive disorders (Schizophrenia, 86%, Alzheimer's disease, 82%). Participant-free responses noted the importance of personalized counseling and participants not of European ancestry expressed frustration with limited PRS applicability. Negative reactions to testing (nervousness or anxiety 5%, regret 2%) were explored.

The findings examine the receipt of simulated embryo PRS in a patient population in which support for using PRS during embryo prioritization is high. Positive patient interest was consistent with other US studies; as prior studies identify significant clinician discomfort, these results highlight the need for comprehensive genetic counseling and inclusive stakeholder input in shaping guidelines for PRS during IVF.