背景:ACOG建议对所有孕妇进行基因筛查和诊断测试,无论其危险因素如何。先前的研究表明,在怀孕以外的种族中,基因检测的转介存在差异,但是关于怀孕期间遗传咨询实践的数据很少。
目的:描述患者,提供者,并实践人口统计学影响,由门诊产前护理提供者提供诊断性产前基因检测。
方法:这是一项在2021年10月至2022年3月之间进行的多中心匿名调查研究。门诊产前护理提供者,包括家庭医学和产科护理,居民,MFM研究员,执业护士,医师助理和助产士,对他们的遗传咨询实践和实践人口统计学进行了调查。主要结果是对调查问题“您是否为所有患者提供诊断性基因检测”回答“是-所有患者”的受访者比例。次要结果包括患者和实践人口统计学之间的关联,并提供诊断测试。诊断测试定义为绒毛膜绒毛取样(CVS)或羊膜穿刺术。筛选基因测试被定义为顺序筛选,四重屏幕,无细胞DNA筛选或“其他”。适当时使用卡方检验或Fisher精确检验。对于诊断测试的结果答案,进行逻辑回归以评估诊断基因测试的答案与提供者当前培训水平之间的关联。种族/民族,和保险状态变量。多变量分析用于校正混杂因素。
结果:向7个站点的635名门诊产前护理提供者发送了调查。419个提供者的总应答率为66%。在回应的提供者中,大多数是出席者(44.9%),其次是居民(37.5%)。供应商指出了比赛,保险状况,以及患者人群的主要语言。98%的提供者提供了筛查基因测试。根据提供程序报告,37%为所有患者提供诊断测试,18%的人根本没有提供。44%仅在存在某些患者因素的情况下提供。54.8%的与会者报告普遍提供诊断测试。关于单变量分析,居民提供诊断性检测的可能性低于就诊者(OR0.1895%CI0.11,0.30).为黑人/非西班牙裔提供服务的提供者,黑人/西班牙裔,与其他患者人群相比,其他/西班牙裔患者报告提供诊断测试的可能性较小.服务白人/非西班牙裔的提供者更有可能提供诊断测试(OR2.2695CI1.51-3.39)。与主要为公共保险的患者相比,主要为私人保险的患者人群更有可能接受诊断测试(OR6.2595CI3.60-10.85)。与其他患者人群相比,主要为英语人群服务的提供者更有可能提供诊断性基因检测(OR0.4395CI0.26-0.69)。在多变量分析中,与提供诊断测试仍然显着相关的因素包括培训水平(住院医师:OR=0.3395CI0.17-0.62,p=0.0006;APPOR=0.3495CI0.15-0.82,p=0.02),与公共保险相比,至少有1/3的患者被认定为"其他西班牙裔"(OR=0.4295%CI0.23-0.77,p=0.005),并且具有私人保险(主要是私人保险OR=2.8495CI1.20-6.74,P=0.02).
结论:尽管建议对所有患者进行基因筛查和诊断测试,没有提供者组普遍提供诊断测试。为种族/族裔少数群体服务的提供者,那些有公共保险的人,那些主要语言不是英语的人不太可能报告普遍提供诊断性基因检测。
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.