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

摘要 非侵入性产前检测（NIPT），一种胎儿染色体异常的无细胞DNA筛查试验，使用 母体血浆，被誉为“革命性的产前筛查和诊断”。介绍 在2011年底的商业化中，NIPT的快速临床应用凸显了基因组医学的增长， 对病人护理的巨大承诺。源自基因组和精准医学的研究前景 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。虽然基因组发现已经加速在一个快速的步伐， 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2010年，美国已进行了超过100，000例NIPT。 2014.然而，迄今为止关于采用NIPT的文献来自单个诊所的方便样本 设置.目前，有一个明显缺乏的人口为基础的证据，利用和病人的利益 从NIPT。现有的证据基础不足以清楚地描绘人口一级的趋势， NIPT的采用，特别是按社会经济地位、种族/民族和 保险范围。因此，没有关于NIPT使用和影响的不公平程度的信息。使用 一个独特的全面的医疗保健数据库，涵盖所有马萨诸塞州居民年龄在18-64岁，我们建议 测量记录的NIPT使用情况和减少传统侵入性诊断的收益 在总人口和不同的亚群中进行测试，按社会经济地位（SES）、种族/ 种族和保险范围该数据库涵盖了产妇护理的整个范围， 产前检查、NIPT、遗传咨询、绒毛取样和子宫穿刺术。的具体目标 本研究旨在1）估计2012-2015年期间所有孕妇中NIPT的年人群使用率 妇女和基于产妇年龄、社会经济地位、种族/族裔和保险的亚组之间的差异; 2）制定一项 个人水平模型，以确定与NIPT摄取相关的多层次因素（即，患者、提供者、医院 和地理区域），并检查该模型在多大程度上解释了NIPT吸收的差异， SES、种族/民族和保险;以及3）检查NIPT采用与侵入性 诊断测试，以及SES、种族/民族和保险在这种关联中的变化。拟定研究 将产生基于人群的证据，告知一系列利益相关者-孕妇，供应商， 专业协会，付款人和国家政策制定者-在多大程度上NIPT的预期效益 在不同的亚群中实现，并确定潜在的障碍和促进因素，以解决 这可能是由于引入NIPT而产生的不公平。调查结果将对评估新的 在可及性和患者影响公平的基础上取得基因组医学的进展。

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.