Practice patterns for expanded carrier screening among reproductive endocrinology and infertility physicians

Area of Science:

• Reproductive Medicine
• Medical Genetics
• Infertility Treatment

Background:

• Expanded carrier screening (ECS) is crucial for preconception genetic risk assessment.
• Interventions exist to mitigate genetic disease risks in offspring.
• Little is known about how Reproductive Endocrinology and Infertility (REI) physicians implement ECS.

Purpose of the Study:

• To assess ECS practices among U.S. REI physicians.
• To identify physician or clinic factors influencing the requirement of ECS results before fertility treatment initiation.

Main Methods:

• A 23-question survey was distributed to 802 Society for Reproductive Endocrinology and Infertility members.
• Descriptive statistics, chi-square, Fisher's exact tests, and multivariable logistic regression were used.
• Factors associated with requiring ECS results prior to treatment were analyzed.

Main Results:

• 62.2% of 143 respondents required ECS results before fertility treatment.
• Physicians trained in the West were less likely to require ECS compared to those in the Northeast (aOR: 0.29).
• Physicians in hybrid practices had higher odds of requiring ECS than those in academic settings (aOR: 6.97).

Conclusions:

• ECS practices differ among REI physicians, influenced by training region and practice setting.
• These variations may lead to unequal patient access to genetic screening.
• There is a need for standardized guidelines for ECS in reproductive medicine.