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

PURPOSE: Expanded carrier screening (ECS) is a commonly used preconception screening test, especially in fertility practices given available interventions to mitigate risks of genetic disease among offspring. However, little is known about the implementation of ECS by Reproductive Endocrinology and Infertility (REI) physicians. This study assessed ECS practices among REI physicians in the United States (U.S.) and physician or clinic factors associated with requiring patients' ECS to result prior to initiating any fertility treatment (in vitro fertilization or intrauterine insemination).

METHODS

A 23-question survey assessing ECS practices of U.S. REI physicians was sent to 802 Society for Reproductive Endocrinology and Infertility members. Analyses included descriptive statistics, chi-square and Fisher's exact tests, and multivariable logistic regression analysis to identify factors associated with requiring ECS results prior to fertility treatment.

RESULTS

Among 143 respondents (response rate: 17.8%), 62.2% required patient ECS results prior to initiating fertility treatment. Genetic counselors were employed at 27.3% of practices. Pretest counseling was most commonly performed by physicians (80.4%). In a multivariable logistic regression containing fellowship region and practice setting, physicians trained in the West were less likely to require ECS compared to those trained in the Northeast (aOR: 0.29; 95% CI: 0.09,0.89; p = 0.03). Physicians in hybrid practices had higher odds of requiring ECS compared to those in academic practice (aOR: 6.97; 95% CI: 2.02, 24.11; p < 0.001).

CONCLUSION

ECS practices vary among REI physicians, potentially influenced by practice setting and fellowship training region. These differences may contribute to inequitable patient access and highlight the need for standardized guidelines specific to reproductive medicine.