(1062) Routine Genetic Carrier Screening Practices During Prenatal Care and Perceptions Regarding Expanded Carrier Screening

Friday, January 31, 2025

4:00 PM – 6:00 PM

Submitting Author and Presenting Author(s)

JL

Joseph Levy, MD, PhD

Maternal Fetal Medicine Fellow
University of Missouri-Kansas City
Kansas City, Missouri, United States

Coauthor(s)

Carolyn Chatterton, DO, MPH

Fellow
Detroit Medical Center/Wayne State University
Detroit, Michigan, United States
MH

Melissa Hicks, MS

Genetic Counselor
Detroit Medical Center / Wayne State University
Detroit, Michigan, United States
DM

Devika Maulik, MD

MFM
University of Missouri-Kansas City
Kansas City, Missouri, United States

Objective: The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) disagree on prenatal genetic carrier screening (GCS) guidelines. ACOG recommends routine screening for 2 genes plus risk based screening, while ACMG recommends screening for genes with a ≥1/200 carrier frequency. We sought to understand current GCS practices, and perceptions of expanded genetic carrier screening (EGCS).

Study Design: An electronic survey was distributed to obstetrical providers, including Ob/Gyns, midwives, and medical students. For statistical analysis, logistic regression was used.

Results: 210 responses were recorded from 37 states. The majority of responses were from providers in Michigan (20%, n = 42), in an urban setting (49.5%, n=104), and practicing as Ob/Gyn physicians (81.9%, n=172) or Maternal Fetal Medicine physicians (14.8%, n=31). For a low risk prenatal patient, providers reported screening for a wide range of genes (1-445 genes, Fig. 1). Most reported screening for 14 genes (n=49, 23.3%), followed by 4 genes (n=33, 15.7%). A minority of providers deviate from this practice, with some (4.6%) basing the gene number on patient preferences, while others (5.7%) routinely screen for >100 genes; furthermore, 12.9% of providers were unsure of the number screened (Fig. 1). Overall, 62.4% (n=131) of respondents support expanding ACOG recommendations for routine GCS for low risk PNC. Increased provider comfort level for counseling patients on GCS results was significantly associated with increased support for EGCS (p=0.02) (Fig. 2). Perceived barriers to integrating EGCS include concerns about patient cost, a lack of appropriate pre and post-test counseling, and clinic logistics.

Conclusion: There is significant heterogeneity in current GCS practices among obstetrical providers. The majority of respondents support an updated ACOG practice guideline for EGCS. Given the rapidly changing landscape of genetic technology and reproductive choice, increased provider education is paramount to overcome potential barriers to implementing EGCS and achieving equitable PNC.