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Q&A

Genetics

Poster Session 2

(376) Efficiency and Equity of Genetic Counseling Referrals: A Needs Assessment of Providers

Tuesday, February 13, 2024

3:30 PM – 5:00 PM

Location: Prince George's Exhibit Hall CDE, Lower Atrium Level

Primary & Presenting Author(s)

Kathryn E. Anthony, BS, MD (she/her/hers)

Women and Infants Hospital
E Providence, RI, United States

Coauthor(s)

Margaret Thorsen, BA, MD

Physician
Women and Infants Hospital
Providence, RI, United States
HA

Huda B. Al-Kouatly, MD

Thomas Jefferson University
Philadelpia, PA, United States
Melissa L. Russo, MD (she/her/hers)

Assistant Professor, Obstetrics and Gynecology
Women and Infants Hospital
Providence, RI, United States

Objective: Little is known about prenatal providers’ comfort and competency in counseling about genetic risks without the assistance of genetic counselors (GCs). A recent study estimates 30% of patients with indications for GC referrals are missed by their primary provider. This survey aimed to assess prenatal provider needs related to genetic counseling with a focus on referral patterns, comfort in counseling, and barriers to care.

Study Design: We conducted an anonymous, cross-sectional survey in Qualtrics to assess clinicians’ self-reported confidence in knowledge of indications for GC referrals, designated by the American College of Medical Genetics and Genomics (ACMG). The survey was reviewed by three GC experts to provide content validity and distributed electronically to physicians, midwives, advanced practice providers in our institution from Ob/Gyn, family medicine, fertility and maternal-fetal medicine. Descriptive statistics were performed.

Results: The survey response rate was 44.7% (77/170). 67.5% of respondents report that the majority of their patients utilize government insurance plans. Assessing confidence, 83% percent of participants reported they could appropriately identify patients that qualify for GC. 68.8% of respondents stated they always screen family history for birth defects and congenital cardiac defects. The majority of providers did not screen for family history of audiovisual deficits (68.4%) or consanguinity (71.2%), despite ACMG recommendations. Only one third (31.2%) agreed that they were equipped to elicit family history in patients with limited health literacy or language barriers. Respondents identified multiple barriers to counseling (Figure 1). Providers were supportive of a proposed, standardized care tool to assist in the collection of family history, to improve clinic efficiency and to identify which patients may benefit from referral.

Conclusion: Our results demonstrate discrepancies between providers’ confidence level and recognition of indications for GC. This emphasizes the need for standardized tools, designed to improve access and minimize inequities in referrals.