Utilization of preimplantation genetic testing for monogenic disorders

Area of Science:

• Reproductive genetics
• Medical decision-making
• Patient-centered care

Background:

• Preimplantation genetic diagnosis for monogenic disorders (PGT-M) offers an alternative to prenatal diagnosis or childbearing for at-risk couples.
• Understanding patient perspectives is crucial for optimizing PGT-M services.

Purpose of the Study:

• To assess the utilization rate of PGT-M.
• To identify factors influencing patient decisions regarding PGT-M.
• To evaluate patient satisfaction with the PGT-M process.

Main Methods:

• A survey study was conducted at an academic center.
• Genetically at-risk patients (n=49) consulting for PGT-M between 2010-2018 completed an electronic survey.
• The survey assessed demographics, genetic history, consultation experience, decision-making factors, and satisfaction.

Main Results:

• PGT-M utilization was high at 89.8% post-consultation, with 93% deciding within 3 months.
• Key decision factors included consultation information, test accuracy, avoiding child suffering, and pregnancy termination avoidance.
• Financial burden and IVF/PGT-M complexity were significant barriers. Satisfaction was high (84.1% would use again), particularly for those with live births.

Conclusions:

• The majority of patients pursue PGT-M despite challenges.
• Understanding decision-making factors is vital for enhancing PGT-M consultations and patient experience.
• Optimizing the PGT-M process can improve patient satisfaction and utilization.