Department of Obstetrics, Gynecology, and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, NY (Drs Peterson and Szeto, Ms Li, and Dr Strong).
Department of Obstetrics, Gynecology, and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, NY (Drs Peterson and Szeto, Ms Li, and Dr Strong).
Am J Obstet Gynecol MFM. 2023 Nov;5(11):101150. doi: 10.1016/j.ajogmf.2023.101150. Epub 2023 Sep 6.
The American College of Obstetricians and Gynecologists 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 limited data exist regarding genetic counseling practices during pregnancy.
This study aimed to describe how patient, provider, and practice demographics influence the offering of diagnostic prenatal genetic testing by outpatient prenatal care providers.
This was a multicenter anonymous survey study conducted between October 2021 and March 2022. Outpatient prenatal care providers, including family medicine and obstetrics attendings, residents, maternal-fetal medicine 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?" The secondary outcomes included the association between patient and practice demographics and offering diagnostic testing. Diagnostic testing was defined as chorionic villus sampling or amniocentesis. Screening genetic tests were defined as sequential screen, quadruple screen, cell-free DNA screening, or "other." The chi-square test or Fisher exact test was 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 the current training level of providers, race and ethnicity, and insurance status variables. Multivariable analysis was performed to adjust for confounders.
A total of 635 outpatient prenatal care providers across 7 sites were sent the survey. Overall, 419 providers responded for a total response rate of 66%. Of the providers who responded, most 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 it if certain patient factors were present. Moreover, 54.8% of attendings reported universally offering diagnostic testing. On univariable analysis, residents were less likely to offer diagnostic testing than attendings (odds ratio, 0.18; 95% confidence interval, 0.11-0.30). Providers who serve non-Hispanic Black, Hispanic Black, and other Hispanic patients were less likely to report offering diagnostic testing than other patient populations. Providers who served non-Hispanic Whites were more likely to offer diagnostic testing (odds ratio, 2.26; 95% confidence interval, 1.51-3.39). Patient populations who were primarily privately insured were more likely to be offered diagnostic testing compared with primarily publicly insured patients (odds ratio, 6.25; 95% confidence interval, 3.60-10.85). Providers who served a primarily English-speaking population were more likely to offer diagnostic genetic testing than other patient populations (odds ratio, 0.43; 95% confidence interval, 0.26-0.69). On multivariable analysis, the factors that remained significantly associated with offering diagnostic testing included level of training (resident odds ratio, 0.33; 95% confidence interval, 0.17-0.62; P=.0006; advanced practice provider odds ratio, 0.34; 95% confidence interval, 0.15-0.82; P=.02), having at least one-third of the patient population identify as "other Hispanic" (odds ratio, 0.42; 95% confidence interval, 0.23-0.77; P=.005), and having private insurance instead of public insurance (primarily private insured odds ratio, 2.84; 95% confidence interval, 1.20-6.74; P=.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 and ethnic minority, those with public insurance, and those whose primary language is not English are less likely to report universally offering diagnostic genetic testing.
美国妇产科医师学会建议所有孕妇提供遗传筛查和诊断测试，无论风险因素如何。先前的研究表明，在怀孕期间，种族因素会导致对遗传检测的转诊存在差异，但关于怀孕期间遗传咨询实践的数据有限。
本研究旨在描述患者、提供者和实践人口统计学特征如何影响门诊产前保健提供者提供诊断性产前遗传检测。
这是一项多中心匿名调查研究，于 2021 年 10 月至 2022 年 3 月进行。调查了包括家庭医学和妇产科主治医生、住院医师、母胎医学研究员、执业护士、医师助理和助产士在内的门诊产前保健提供者，询问他们的遗传咨询实践和实践人口统计学特征。主要结果是回答“是，所有患者”这一调查问题的受访者比例，该问题是“您是否为所有患者提供诊断性遗传检测？”次要结果包括患者和实践人口统计学特征与提供诊断性检测之间的关联。诊断性检测定义为绒毛膜绒毛取样或羊膜穿刺术。筛查性遗传检测定义为序贯筛查、四联筛查、游离 DNA 筛查或“其他”。适当情况下使用卡方检验或 Fisher 确切检验。对于诊断性检测的结果答案，进行了逻辑回归分析，以评估提供者当前培训水平、种族和民族以及保险状况变量与诊断性遗传检测答案之间的关联。进行了多变量分析，以调整混杂因素。
共向 7 个地点的 635 名门诊产前保健提供者发送了调查。共有 419 名提供者做出回应，总回应率为 66%。在做出回应的提供者中，大多数是主治医生（44.9%），其次是住院医师（37.5%）。提供者报告了其患者人群的种族、保险状况和主要语言。98%的提供者提供了筛查性遗传检测。根据提供者的报告，37%的提供者为所有患者提供诊断性检测，18%的提供者根本不提供，44%的提供者仅在某些患者因素存在时提供。此外，54.8%的主治医生报告普遍提供诊断性检测。在单变量分析中，与主治医生相比，住院医师提供诊断性检测的可能性较小（比值比，0.18；95%置信区间，0.11-0.30）。为非西班牙裔黑人、西班牙裔黑人或其他西班牙裔患者服务的提供者报告提供诊断性检测的可能性小于其他患者群体。为非西班牙裔白人患者服务的提供者更有可能提供诊断性检测（比值比，2.26；95%置信区间，1.51-3.39）。主要私人保险的患者人群更有可能接受诊断性检测，而主要公共保险的患者人群则较少（比值比，6.25；95%置信区间，3.60-10.85）。为主要讲英语的人群服务的提供者更有可能提供诊断性遗传检测，而不是其他患者群体（比值比，0.43；95%置信区间，0.26-0.69）。在多变量分析中，与提供诊断性检测相关的显著因素包括培训水平（住院医师比值比，0.33；95%置信区间，0.17-0.62；P=.0006；高级实践提供者比值比，0.34；95%置信区间，0.15-0.82；P=.02）、至少有三分之一的患者群体自认为是“其他西班牙裔”（比值比，0.42；95%置信区间，0.23-0.77；P=.005），以及拥有私人保险而不是公共保险（主要是私人保险的比值比，2.84；95%置信区间，1.20-6.74；P=.02）。
尽管建议向所有孕妇提供遗传筛查和诊断检测，但没有任何提供者群体普遍提供诊断性检测。为种族和民族少数群体、公共保险患者以及主要语言不是英语的患者提供服务的提供者更不可能报告普遍提供诊断性遗传检测。
