Utilization of preimplantation genetic testing for monogenic disorders

Abstract

Objective: To determine the rate of utilization, factors influencing the decision-making process, and patient satisfaction with preimplantation genetic diagnosis for monogenic disorders (PGT-M).

Design: Survey study.

Setting: Academic center.

Patient(s): Genetically at-risk patients seen for PGT-M consultation between January 2010 and 2018.

Intervention(s): Electronic survey including demographics, genetic history, consultation experience, decision-making process, and satisfaction with PGT-M process.

Main outcome measure(s): Rate of utilization of PGT-M, importance of decision-making factors, and satisfaction with PGT-M process.

Result(s): Among survey respondents (n = 49), the rate of utilization of PGT-M after consultation was 89.8%. Ninety-three percent of participants decided whether to pursue PGT-M within 3 months of consultation. Factors that were considered most important to this decision-making process included information provided at consultation, accuracy of test results after PGT-M, avoidance of suffering of an affected child, and ability to avoid termination of an affected pregnancy. Key barriers to utilization included financial burden and overall complexity of the in vitro fertilization (IVF)/PGT-M process. Of those utilizing PGT-M (n = 44), 72.1% had at least one live birth or were pregnant during the study period. Satisfaction with PGT-M was high, and most couples would use IVF/PGT-M for a future pregnancy (84.1%). Participants with a live birth were more satisfied with the PGT-M process than those who had no live birth.

Conclusion(s): Most patients seeking consultation for PGT-M were likely to pursue this technology despite financial burden and complexity of the process. Exploring factors that influence patient decision-making regarding PGT-M is important for tailoring the consultation and optimizing the overall experience.

Keywords: Assisted reproductive technology; genetic counseling; genetic screening; preimplantation genetic diagnosis; preimplantation genetic testing for monogenic disorders.