Multiplex Initiative

在一连串的程序中有六个数据收集点：(1)基线电话评估，(2)可在线或通过电话完成的基线后评估，(3)门诊访问评估，(4)邮寄结果后的电话，(5)六个月跟踪电话评估，以及(6)自动医疗记录的摘要，以评估保健利用和寻求保健的结果。 参与者是从亨利·福特健康系统(HFHS)内的十家诊所接受护理的人中确定的。已确定的潜在参与者收到了HFHS的一封信，信中描述了这项研究，并要求他们参与基线评估。采访由西雅图健康研究中心(CHS)训练有素的调查采访者进行。 在基线评估之后，向符合条件的参与者发送关于多重基因测试的信息，并鼓励他们访问网站并参加在线决策过程评估，奖励50美元。作为他们经验的一部分，个人被要求考虑进行多重遗传敏感性测试。增加疾病风险的基因变异的检测结果由NHGRI通过邮件直接传达给参与者。结果不会提供给医疗保健提供者，也不会包含在医疗记录中。HFHS研究教育人员试图在参与者收到测试结果后尽快通过电话联系他们，最好是在收到邮寄结果的十天内(取决于参与者的可用性)。研究教育工作者在解释检测结果方面提供帮助，并选择考虑向HFHS成员提供其他预防保健资源。 生物信息学和科学编程核心(由Andy Baxevanis博士领导)已承担起多元计划的所有与计算和信息技术相关的方面的主要责任。这包括开发涉及NHGRI、HFHS、CHS和巴尔的摩遗传病研究中心(CIDR)的数据规范和数据传输协议。这些数据传输协议跟踪研究参与者作为研究的一部分所经历的每一个步骤。这些数据传输至关重要，因为它们在研究期间充当事件触发器，并确保研究对象(及其生物样本)顺利通过数据收集管道。这些数据本身在性质上是非常不同的，包括基线访谈的结果、关于研究对象登记的信息、抽血的跟踪、任何给定时间的样本位置、对CHS进行的在线和面对面调查的回应、HFHS的相关临床数据、CIDR的基因分型数据、邮寄结果手册的状态以及后续访问的状态。我们花了大量的时间修改LabMatrix，NHGRI临床数据库系统，以适应这些数据在指定时间间隔到达时，以及能够自动生成邮寄给研究参与者的结果手册。由于LabMatrix将成为所有Multiplex Initiative数据的仓库，我们已考虑确保LabMatrix也可用作下游的分析工具，使希望对这些数据进行二次分析的调查人员能够轻松地收集和询问定制数据集。 作为数据收集管道的一部分，他们还花费了大量时间开发多工倡议网站(http://multiplex.nih.gov).这个网站是研究收集调查信息的主要工具，其设计使每个参与者访问该网站的时间都可以被精确跟踪，精确到每个页面花费的时间和所选链接的顺序；这些数据对于回答研究的一些与行为有关的问题很重要。

There are six data collection points in the cascade of procedures: (1) a baseline telephone assessment, (2) a post-baseline assessment that can be completed online or by telephone, (3) a clinic visit assessment, (4) a telephone call following mailing of results, (5) a six month follow-up telephone assessment, and (6) abstraction of automated medical records to assess health care utilization and health care seeking outcomes. Enrollees are being identified from those who receive care at ten clinics within the Henry Ford Health System (HFHS). Identified potential participants are mailed a letter from HFHS describing the study and requesting their participation in the baseline assessment. Interviews are conducted by a trained survey interviewer at the Center for Health Studies (CHS) in Seattle. Following the baseline assessment, participants who are eligible are sent information about multiplex genetic testing and encouraged to visit the Web site and participate in an on-line decision process assessment for a $50 incentive. As part of their experience, individuals are asked to consider having the Multiplex Genetic Susceptibility Test. Test results of genetic variations that confer an increased risk for disease are communicated by NHGRI directly to participants through the mail. Results are not given to health-care providers or included in medical records. A HFHS research educator attempts to contact participants by telephone as soon after they have received their test results as possible, preferably within ten days of receipt of mailed results (depending on the availability of the participant). The research educator offers assistance in interpreting the test results as well as the option to consider other preventive health resources available to HFHS members. The Bioinformatics and Scientific Programming Core (led by Dr. Andy Baxevanis) has taken primary responsibility for all computational- and IT-related aspects of the Multiplex Initiative. This has included developing data specifications and data transfer protocols involving NHGRI, HFHS, CHS, and the Center for Inherited Disease Research (CIDR) in Baltimore. These data transfer protocols track each step that a study participant experiences as part of this study. These data transfers are critical, since they serve as event triggers during the study and ensure that a study subject (and their biological samples) move smoothly through the data collection pipeline. The data themselves are incredibly disparate in nature and include the results of baseline interviews, information on study subject enrollment, the tracking of blood draws, the location of samples at any given time, responses to on-line and in-person surveys conducted by CHS, relevant clinical data from HFHS, genotyping data from CIDR, the status of mailing result booklets, and the status of follow-up visits. We have spent a significant amount of time modifying LabMatrix, NHGRIs clinical database system, to accommodate these data as they arrive at specified intervals, as well as to be able to automatically generate result booklets for mailing to study participants. Since LabMatrix will be the storehouse for all Multiplex Initiative data, we have given significant consideration to ensuring that LabMatrix can also be used as an analysis tool downstream, enabling investigators who wish to perform secondary analyses on these data to easily amass and interrogate custom data sets. As part of the data collection pipeline, they have also spent a significant amount of time developing the Multiplex Initiative Web site (http://multiplex.nih.gov). This Web site is the studys primary tool for collecting survey information and has been designed so that each participants visit to the site can be precisely tracked, down to the amount of time spent on each page and the order of links that were selected; these data are important for answering some of the studys behaviorally related questions.