Patient Perspectives After Receiving Simulated Preconception Polygenic Risk Scores (PRS) for Family Planning

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2025 Feb 11

PMID 39932628

Authors

Maria Katz

Noor Siddiqui

Barry Behr

Dhruva Chandramohan

Qinnan Zhang

Funda Suer

Yuntao Xia

Benjamin Podgursky

Affiliations

Soon will be listed here.

Abstract

Purpose: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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