Adoption of Non-Invasive Prenatal Testing in Diverse Populations: A Multilevel Approach

摘要 无创产前检测(NIPT)是一种无细胞DNA筛查胎儿染色体异常的方法，使用 孕妇血浆，已被誉为“革命性的产前筛查和诊断”。介绍 2011年末，NIPT在临床上的快速采用突显了基因组医学的增长和 给病人护理带来了巨大的希望。源于基因组和精准医学的研究图景 然而，这些努力需要同时努力监测人口健康影响并确保公平 获得这些进步的途径。尽管基因组发现的速度很快，但相应的 检查基因组学转化为临床或公共卫生实践的有效性的研究速度 落后了。据估计，截至以下日期，美国已进行了100,000多次NIPT 2014年。然而，迄今为止关于采用NIPT的文献来自于单一诊所的方便样本。 设置。目前，关于利用和患者利益的基于人群的证据明显缺乏。 来自NIPT。现有的证据基础不足以清楚地描绘#年的人口水平趋势。 NIPT的采用，特别是在按社会经济地位、种族/族裔和 保险范围。因此，没有关于NIPT使用和影响方面的不平等程度的信息。vbl.使用 一个独特的全面的医疗保健数据库，涵盖所有18岁的马萨诸塞州居民-，我们建议 衡量记录在案的NIPT的使用情况和通过减少传统侵入性诊断实现的收益 按社会经济地位(SES)、种族/人口对总体人口和不同亚群进行测试 种族和保险覆盖范围。该数据库涵盖了产妇保健的整个范围，包括 产前检查、NIPT、遗传咨询、绒毛取样和羊膜穿刺术。的具体目标 本研究的目的是：1)估计2012-2015年间所有孕妇使用NIPT的年人口比率 妇女和基于产妇年龄、社会经济地位、种族/族裔和保险的分组；2)制定 确定与NIPT摄取相关的多层次因素(即患者、提供者、医院)的人员级别模型 和地理区域)，并检验该模型在多大程度上解释了 社会安全、种族/民族和保险；以及3)检查NIPT采用和使用侵袭性之间的联系 诊断性测试，以及按社会经济地位、种族/民族和保险划分的这种关联的变异。建议进行的研究 将产生基于人口的证据，将告知一系列利益相关者-孕妇、提供者、 专业协会、付款人和国家政策制定者--关于NIPT预期收益的程度 已经在不同的人群中实现，并确定要解决的潜在障碍和促进者 引入NIPT可能产生的不平等。调查结果将对评估新的 基于可获得性和患者影响的公平性的基因组医学进展。

Abstract Non-invasive prenatal testing (NIPT), a cell-free DNA screening test of fetal chromosomal abnormalities using maternal plasma, has been heralded as “revolutionizing prenatal screening and diagnosis.” Introduced commercially in late 2011, the rapid clinical adoption of NIPT highlights genomic medicine’s growth and enormous promise for patient care. The research landscape stemming from genomic and precision medicine endeavors, however, necessitates concomitant efforts to monitor population health impact and assure equity in access to these advances. Although genomic discovery has accelerated at a rapid pace, the corresponding rate of research examining the effectiveness of genomics translation into clinical or public health practice has lagged behind. It has been estimated that over 100,000 NIPTs have been performed in the United States as of 2014. Yet, the literature to date on the adoption of NIPT is from convenience samples from single clinic settings. Currently, there is a glaring paucity of population-based evidence on utilization of and patient benefits from NIPT. The existing evidence base is not sufficient to draw a clear picture of the population-level trends in NIPT adoption, particularly among vulnerable subpopulations by socioeconomic status, race/ethnicity, and insurance coverage. As such, there is no information on the extent of inequities in NIPT use and impact. Using a uniquely comprehensive healthcare database covering all Massachusetts residents aged 18-64, we propose to measure documented NIPT use and gains realized from reduction of conventional invasive diagnostic testing among the overall population and across diverse subpopulations by socioeconomic status (SES), race/ ethnicity, and insurance coverage. The database captures the entire spectrum of maternity care covering prenatal visits, NIPT, genetic counseling, chorionic villus sampling and amniocentesis. The specific aims of this study are to 1) estimate annual population rate of use of NIPT during 2012-2015 among all pregnant women and among subgroups based on maternal age, SES, race/ethnicity and insurance; 2) develop a person-level model to identify the multilevel factors associated with NIPT uptake (i.e., patient, provider, hospital and geographic area), and examine the extent to which the model accounts for disparities in NIPT uptake by SES, race/ethnicity and insurance; and 3) examine the association between NIPT adoption and use of invasive diagnostic testing, and variation in this association by SES, race/ethnicity and insurance. The proposed study will generate population-based evidence that will inform a range of stakeholders – pregnant women, providers, professional societies, payers, and state policymakers – on the extent to which anticipated benefits of NIPT have been realized across different subpopulations, and identify potential barriers and facilitators to address inequities that may be arising from the introduction of NIPT. Findings will be important for evaluation of new advances in genomic medicine based on equity in accessibility and patient impact.