VA 研究中的基因组医学 (GenoVA)
2022年9月29日 更新者：Jason Vassy、Boston VA Research Institute, Inc.
初级保健中常见疾病多基因风险评分的实用随机试验
该试验将确定多基因风险评分测试在六种疾病（冠状动脉疾病、心房颤动、2 型糖尿病、结直肠癌、乳腺癌或前列腺癌）中至少一种的高遗传风险患者中的临床有效性，测量通过 24 个月内流行或新发疾病的诊断时间。
研究概览
详细说明
当今基因组学中最紧迫的争议之一是多基因风险评分 (PRS) 的临床实用性。 PRS 将基因组风险测试的范围扩大到单基因疾病之外，它结合了来自数百甚至数百万个基因位点的信息，每个基因位点对常见复杂疾病的风险影响非常小。 结果是冠状动脉疾病 (CAD)、2 型糖尿病 (T2D) 和乳腺癌等疾病易感性的连续定量风险因素。 与更罕见的单基因疾病变异相比，PRS 对公共卫生和医疗保健具有更大的变革潜力，因为它们能够识别出更大比例的疾病风险显着升高的人群，从而促进基于证据的预防和管理。 此外，与早期仅包含有限数量遗传变异的 PRS 相比，它们的预测能力有了很大提高。 然而，虽然 PRS 与多种常见疾病之间的关联已得到充分证实（临床有效性），但该信息对患者健康结果（临床效用）的潜在影响仍存在争议和研究不足。
本研究将检查使用 PRS 治疗 6 种由 PCP 筛查并已制定预防策略的常见疾病的有效性和实施结果：CAD、AFib、T2D、结直肠癌、前列腺癌和乳腺癌。 这个试验有两个目的：
目标 1：进行一项随机对照试验 (RCT)，以确定 PRS 在至少一种疾病的高遗传风险患者中的临床有效性，通过临床管理的变化（过程结果）和诊断流行病或新发疾病的时间来衡量（临床结果）超过 24 个月。
目标 2：衡量高优先级基因组医学实施成果，包括初级保健提供者 (PCP) 对 PRS 的知识和信念、医疗保健中的患者激活、药物依从性和成本。
研究类型
介入性
注册 (预期的)
1076
阶段
- 不适用
联系人和位置
本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。
学习联系方式
- 姓名：Jason L. Vassy, MD, MPH, SM
- 电话号码：857-364-2561
- 邮箱：jvassy@partners.org
学习地点
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Massachusetts
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Boston、Massachusetts、美国、02130-4817
- 招聘中
- VA Boston Healthcare System
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接触：
- Jason L. Vassy, MD, MPH, SM
- 电话号码：857-364-2561
- 邮箱：jvassy@partners.org
-
-
参与标准
研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。
资格标准
适合学习的年龄
50年 至 70年 (成人、年长者)
接受健康志愿者
不
有资格学习的性别
全部
描述
纳入标准：
- 入学时年龄 50-70 岁
- 没有以下疾病的已知诊断，最初使用经过验证的方法通过国际疾病分类 (ICD) 代码或其他电子健康记录 (EHR) 数据进行筛选，然后在招募过程中与潜在的患者参与者确认：冠状动脉疾病、心房颤动、 2型糖尿病、结直肠癌、乳腺癌、前列腺癌
排除标准：
如果患者符合以下条件，则他们将不符合资格：
- 已知诊断出六种感兴趣的疾病中的至少一种
- 小于 50 岁或大于 70 岁
- 怀孕了
- 被监禁或制度化
学习计划
本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。
研究是如何设计的？
设计细节
- 主要用途：放映
- 分配：随机化
- 介入模型：并行分配
- 屏蔽：单身的
武器和干预
参与者组/臂 |
干预/治疗 |
|---|---|
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实验性的：多基因风险评分 (PRS) - 高风险层
高 PRS 组的患者参与者及其提供者将在基线时收到高 PRS 结果，以及有关结果的教育资源。
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来自临床实验室改进修正案 (CLIA) 认证的冠状动脉疾病、心房颤动、2 型糖尿病、结直肠癌、乳腺癌（仅限女性）和前列腺癌（仅限男性）实验室的多基因风险评分报告，随附带有患者和提供者级别的教育材料。
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有源比较器：常规护理 (UC) - 高风险阶层
UC 高臂的患者参与者及其提供者将在 24 个月的观察期后收到他们的高 PRS 结果，以及有关结果的教育资源。
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来自临床实验室改进修正案 (CLIA) 认证的冠状动脉疾病、心房颤动、2 型糖尿病、结直肠癌、乳腺癌（仅限女性）和前列腺癌（仅限男性）实验室的多基因风险评分报告，随附带有患者和提供者级别的教育材料。
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实验性的：多基因风险评分 (PRS) - 平均风险层
PRS 平均组中的患者参与者及其提供者将在基线时收到他们的平均 PRS 结果，以及有关结果的教育资源。
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来自临床实验室改进修正案 (CLIA) 认证的冠状动脉疾病、心房颤动、2 型糖尿病、结直肠癌、乳腺癌（仅限女性）和前列腺癌（仅限男性）实验室的多基因风险评分报告，随附带有患者和提供者级别的教育材料。
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有源比较器：常规护理 (UC) - 平均风险层
UC 平均组的患者参与者及其提供者将在 24 个月的观察期后收到他们的平均 PRS 结果，以及有关结果的教育资源。
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来自临床实验室改进修正案 (CLIA) 认证的冠状动脉疾病、心房颤动、2 型糖尿病、结直肠癌、乳腺癌（仅限女性）和前列腺癌（仅限男性）实验室的多基因风险评分报告，随附带有患者和提供者级别的教育材料。
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研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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常见复杂疾病的新诊断时间
大体时间：入学后24个月
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该研究的主要结果是研究期间 6 种目标条件的未确诊流行病例和事件病例的诊断时间。
该综合结果将仅包括由专家临床图表审查裁定的具有临床意义的诊断。
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入学后24个月
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次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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诊断测试
大体时间：入学后24个月
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任何证据表明患者参与者自入组以来接受了六种目标疾病的额外诊断测试：冠状动脉疾病（压力测试、冠状动脉钙 (CAC) 的心脏 CT、冠状动脉造影）、心房颤动（心电图、心律监测）、 2型糖尿病（血红蛋白A1c、血糖）、结直肠癌（结肠镜检查、乙状结肠镜检查、粪便血液检查、CT结肠造影）、乳腺癌（乳腺X光检查、乳腺MRI、乳腺超声、乳腺活检）和前列腺癌（PSA检测、前列腺活检） ).
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入学后24个月
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患者激活
大体时间：基线和入组后 24 个月
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自我报告的理解、能力和参与医疗保健决策和过程的意愿，在基线和研究结束调查中评估，使用患者激活措施的 13 项简短形式（希伯德，健康服务研究 2005）。
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基线和入组后 24 个月
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医疗费用
大体时间：入学后24个月
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行政数据和微观成本计算方法的组合将用于估计干预成本和随后在入组后 24 个月内患者级别的医疗保健成本。
提供干预所需的基础设施和人员的估计将从研究中凭经验得出。
医疗费用将从计费和管理数据中提取。
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入学后24个月
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服药依从性
大体时间：基线和入组后 24 个月
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使用 3 项 Voils 药物依从性调查（Voils，Medical Care，2012 年）在基线和研究结束调查中评估按规定服药的自我报告。
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基线和入组后 24 个月
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其他结果措施
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
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提供者对 PRS 的知识和信念
大体时间：入学后24个月
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半结构化访谈将收集有关参与提供者对 PRS 风险信息的理解和感知效用的定性数据。
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入学后24个月
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血压
大体时间：基线和入组后 24 个月
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在入组日期之前或之日以及入组之后 24 个月之前或之日病历中记录的最新收缩压和舒张压值。
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基线和入组后 24 个月
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体重指数 (BMI)
大体时间：基线和入组后 24 个月
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在入组日期之前或之日以及入组之后 24 个月之前或之日病历中记录的最新 BMI 值。
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基线和入组后 24 个月
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阿司匹林的使用
大体时间：基线和入组后 24 个月
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将在基线和研究结束调查中评估自我报告的处方或非处方阿司匹林的使用情况。
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基线和入组后 24 个月
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体力活动
大体时间：基线和入组后 24 个月。
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自我报告的身体将使用身体活动快速评估在基线和研究结束调查中进行评估。
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基线和入组后 24 个月。
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酒精摄入量
大体时间：基线和入组后 24 个月
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自我报告的酒精将使用行为风险因素监测系统的措施在基线和研究结束调查中进行评估，记录为有序的 5 项李克特反应（从“从不”到“经常”）。
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基线和入组后 24 个月
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加工肉类消费
大体时间：基线和入组后 24 个月
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使用国家癌症研究所饮食习惯问卷中的食物频率问题，在基线和研究结束调查中评估自我报告的加工肉类摄入量，记录为有序的 5 项李克特反应（从“从不”到“经常”） .
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基线和入组后 24 个月
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低密度脂蛋白胆固醇 (LDL-C)
大体时间：基线和入组后 24 个月
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在入组日期之前或之日以及入组之后 24 个月之前或之日记录在病历中的最新 LDL-C 值。
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基线和入组后 24 个月
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吸烟状况
大体时间：基线和入组后 24 个月
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将使用行为风险因素监测系统的措施在基线和研究结束调查中评估自我报告的吸烟状况。
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基线和入组后 24 个月
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降低风险的药物处方
大体时间：入学后24个月
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在 24 个月的观察期内相关处方药的变化，包括抗高血压药、降胆固醇药、抗凝药、抗血小板药、5-α 还原酶抑制剂、选择性雌激素受体调节剂、芳香酶抑制剂，从病历审查中提取。
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入学后24个月
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健康状况和生活质量
大体时间：基线和入组后 24 个月
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根据基线调查 (VR-12) 收集的数据确定
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基线和入组后 24 个月
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合作者和调查者
在这里您可以找到参与这项研究的人员和组织。
调查人员
- 首席研究员：Jason L. Vassy, MD, MPH, SM、Harvard Medical School (HMS and HSDM)
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负责输入研究信息的人员自愿提供这些出版物。这些可能与研究有关。
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- Christensen KD, Vassy JL, Phillips KA, Blout CL, Azzariti DR, Lu CY, Robinson JO, Lee K, Douglas MP, Yeh JM, Machini K, Stout NK, Rehm HL, McGuire AL, Green RC, Dukhovny D; MedSeq Project. Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial. Genet Med. 2018 Dec;20(12):1544-1553. doi: 10.1038/gim.2018.35. Epub 2018 Mar 22.
- Barnett PG. An improved set of standards for finding cost for cost-effectiveness analysis. Med Care. 2009 Jul;47(7 Suppl 1):S82-8. doi: 10.1097/MLR.0b013e31819e1f3f.
- Vassy JL, Shrader P, Yang Q, Liu T, Yesupriya A, Chang MH, Dowling NF, Ned RM, Dupuis J, Florez JC, Khoury MJ, Meigs JB. Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States. Metab Syndr Relat Disord. 2011 Dec;9(6):475-82. doi: 10.1089/met.2011.0021. Epub 2011 Aug 17.
- Vassy JL, Shrader P, Jonsson A, Fox CS, Lyssenko V, Isomaa B, Groop L, Meigs JB, Franks PW. Association between parental history of diabetes and type 2 diabetes genetic risk scores in the PPP-Botnia and Framingham Offspring Studies. Diabetes Res Clin Pract. 2011 Aug;93(2):e76-e79. doi: 10.1016/j.diabres.2011.04.013. Epub 2011 May 12.
- Vassy JL, Durant NH, Kabagambe EK, Carnethon MR, Rasmussen-Torvik LJ, Fornage M, Lewis CE, Siscovick DS, Meigs JB. A genotype risk score predicts type 2 diabetes from young adulthood: the CARDIA study. Diabetologia. 2012 Oct;55(10):2604-2612. doi: 10.1007/s00125-012-2637-7. Epub 2012 Jul 11.
- Vassy JL, Dasmahapatra P, Meigs JB, Schork NJ, Magnussen CG, Chen W, Raitakari OT, Pencina MJ, Jamal SM, Berenson GS, Goodman E. Genotype prediction of adult type 2 diabetes from adolescence in a multiracial population. Pediatrics. 2012 Nov;130(5):e1235-42. doi: 10.1542/peds.2012-1132. Epub 2012 Oct 15.
- Vassy JL, Hivert MF, Porneala B, Dauriz M, Florez JC, Dupuis J, Siscovick DS, Fornage M, Rasmussen-Torvik LJ, Bouchard C, Meigs JB. Polygenic type 2 diabetes prediction at the limit of common variant detection. Diabetes. 2014 Jun;63(6):2172-82. doi: 10.2337/db13-1663. Epub 2014 Feb 11. Erratum In: Diabetes. 2018 Apr 18;:
- Vassy JL, Stone A, Callaghan JT, Mendes M, Meyer LJ, Pratt VM, Przygodzki RM, Scheuner MT, Wang-Rodriguez J, Schichman SA; VHA Clinical Pharmacogenetics Subcommittee. Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee. Genet Med. 2019 Feb;21(2):382-390. doi: 10.1038/s41436-018-0057-x. Epub 2018 Jun 1.
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- Brunette CA, Miller SJ, Majahalme N, Hau C, MacMullen L, Advani S, Ludin SA, Zimolzak AJ, Vassy JL. Pragmatic Trials in Genomic Medicine: The Integrating Pharmacogenetics In Clinical Care (I-PICC) Study. Clin Transl Sci. 2020 Mar;13(2):381-390. doi: 10.1111/cts.12723. Epub 2019 Dec 18.
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有用的网址
- This link references a poster presentation at the annual American Medical Informatics Association (AMIA) in 2017 by authors Majahalme N, Miller SJ, Zimolzak AJ, and Vassy JL.
- This link references the National Veterans Health Equity report for FY2013, published by the VA Office of Health Equity.
- This link references the Surveillance, Epidemiology, and End Results (SEER) database from November 2017, published by the NIH.
- This link references the National Diabetes Statistics Report from 2017, published by the Centers for Disease Control and Prevention (CDC).
- This link references a book entitled "Systematic Methods for Collecting and Analyzing Multidisciplinary Team Based Qualitative Data," authored by Carey JW and Gelaude D.
- This link references a book entitled "Applied Thematic Analysis," authored by Guest GS, MacQueen KM, and Namey EE.
研究记录日期
这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。
研究主要日期
学习开始 (实际的)
2020年7月17日
初级完成 (预期的)
2025年9月30日
研究完成 (预期的)
2025年9月30日
研究注册日期
首次提交
2020年3月31日
首先提交符合 QC 标准的
2020年3月31日
首次发布 (实际的)
2020年4月2日
研究记录更新
最后更新发布 (实际的)
2022年10月3日
上次提交的符合 QC 标准的更新
2022年9月29日
最后验证
2022年9月1日
更多信息
与本研究相关的术语
其他相关的 MeSH 术语
其他研究编号
- 0594
计划个人参与者数据 (IPD)
计划共享个人参与者数据 (IPD)？
是的
IPD 计划说明
我们将通过位于安全 VA 服务器上的数据存储库共享去识别化的个人级试验数据，并且只能由机构审查委员会 (IRB) 的外部调查人员访问。
IPD 共享时间框架
公布初步结果后
IPD 共享访问标准
访问将取决于 IRB 的批准
IPD 共享支持信息类型
- 研究协议
- 统计分析计划 (SAP)
- 知情同意书 (ICF)
药物和器械信息、研究文件
研究美国 FDA 监管的药品
不
研究美国 FDA 监管的设备产品
不
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.