Genetic counseling practices among outpatient obstetric providers in the Northeast

Abstract

ACOG recommends all pregnant people be offered genetic screening and diagnostic testing regardless of risk factors. Previous studies have demonstrated disparities in referrals for genetic testing by race outside of pregnancy, but little data exists regarding genetic counseling practices during pregnancy. To describe how patient, provider, and practice demographics influence offering diagnostic prenatal genetic testing by outpatient prenatal care providers. This was a multi-center anonymous survey study conducted between October 2021 and March 2022. Outpatient prenatal care providers, including Family Medicine and Obstetric attendings, residents, MFM fellows, Nurse Practitioners, Physician Assistants and Midwives, were surveyed about their genetic counseling practices and practice demographics. The primary outcome was the proportion of respondents who answered "Yes - all patients" to the survey question "Do you offer diagnostic genetic testing to all patients". Secondary outcomes included the association between patient and practice demographics and offering diagnostic testing. Diagnostic testing was defined as chorionic villus sampling (CVS) or amniocentesis. Screening genetic tests were defined as sequential screen, quadruple screen, cell free DNA screening or "other". Chi-square test or Fisher's exact test were used as appropriate. For the outcome answers of diagnostic testing, logistic regression was performed to assess the association between the answer of diagnostic genetic testing and current training level of providers, race/ethnicities, and insurance status variables. Multivariable analysis was used to adjust for confounders. 635 outpatient prenatal care providers across 7 sites were sent the survey. 419 providers responded for a total response rate of 66%. Of the providers who responded, the majority were attendings (44.9%) followed by residents (37.5%). Providers indicated the race, insurance status, and primary language of their patient population. Screening genetic testing was offered by 98% of providers. Per provider report, 37% offered diagnostic testing to all patients, 18% did not offer it at all, and 44% only offered if certain patient factors were present. 54.8% of attendings reported universally offering diagnostic testing. On univariable analysis, residents were less likely to offer diagnostic testing than attendings (OR 0.18 95% CI 0.11, 0.30). Providers who serve Black/Non-Hispanic, Black/Hispanic, and Other/Hispanic patients were less likely to report offering diagnostic testing compared to other patient populations. Providers who served White/Non-Hispanic were more likely to offer diagnostic testing (OR 2.26 95%CI 1.51-3.39). Patient populations who were primarily privately insured were more likely to be offered diagnostic testing compared to primarily publicly insured patients (OR 6.25 95%CI 3.60-10.85). Providers who served a primarily English-speaking population were more likely to offer diagnostic genetic testing than other patient populations (OR 0.43 95%CI 0.26-0.69). On multivariable analysis, the factors that remained significantly associated with offering diagnostic testing included level of training (resident: OR=0.33 95%CI 0.17-0.62, p=0.0006; APP OR=0.34 95%CI 0.15-0.82, p=0.02), having at least 1/3 of the patient population identify as "other-Hispanic" (OR=0.42 95% CI 0.23-0.77, p= 0.005) and having private as compared to public insurance (primarily private insured OR=2.84 95%CI 1.20-6.74, P=0.02). Although offering genetic screening and diagnostic testing to all patients is recommended, no provider group universally offers diagnostic testing. Providers who serve populations from a racial/ethnic minority, those with public insurance, and those whose primary language is not English are less likely to report universally offering diagnostic genetic testing.