Experiences and Outcomes in Early Adopters of Predispositional Sequencing

倾向性测序早期采用者的经验和成果

基本信息

  • 批准号:
    9980970
  • 负责人:
  • 金额:
    $ 80万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2018
  • 资助国家:
    美国
  • 起止时间:
    2018-09-21 至 2022-06-30
  • 项目状态:
    已结题

项目摘要

PROJECT SUMMARY/ABSTRACT The potential of genomic sequencing (GS) promises a new era of precision medicine in which sequence information from healthy individuals can anticipate and prevent disease. At present, both the benefits and harms of genomic sequencing conducted without indication are largely hypothetical. In this uncertain environment, several thousand individuals have already had predispositional personal genome sequencing (PPGS) through academic research projects or commercial services, and many thousands more are projected to do so soon. The majority of these individuals are apparently healthy and would otherwise not receive GS due to lack of medical necessity, but there is growing interest and activity in sequencing for non-diagnostic purposes to enhance disease prevention and health management. Early adopters constitute a unique cohort of individuals that are worthy of study before such testing becomes widespread. We have gathered a number of these projects into a research consortium and piloted a web-based survey to better understand the medical, behavioral and economic impacts of sequencing adults without indication. To date, nearly 1,400 individuals have been invited to participate in our Personal Genome Sequencing Outcomes (PeopleSeq) Consortium, with approximately 50% of individuals contacted enrolling in this preliminary study. A total of 658 individuals have completed this preliminary survey after having their PPGS results disclosed, and we aim to add an additional 2,400 participants by partnering with new sequencing groups. In this proposal, we present a plan and methodology to build upon our project’s foundation. We will expand the opportunity to volunteer for sequencing to include potential participants from underrepresented minorities by offering educational programs that include sequencing at several Historically Black institutions. We will conduct web-based surveys over time and incorporate a mixed-methods approach by including qualitative interviews among selected individuals. As the first longitudinal cohort study of mostly generally healthy adults who receive PPGS, we will extensively evaluate the proposed risks and benefits of PPGS, including short- and long-term impacts on healthcare utilization, psychological impact, and health-related outcomes. We will determine what kinds of follow-up clinical care were obtained (and how it was covered financially), and assess whether it was medically beneficial. Findings from our study will inform preparations in the healthcare system as more individuals seek out and react to DNA sequencing. In addition, we will collect actual genomic reports on consenting participants and will characterize the number and nature of clinically significant findings. We will combine this genomic information with survey data about follow-up actions to explore the potential of PPGS to provide clinically useful information that can assist in prevention and health management.
项目概要/摘要 基因组测序 (GS) 的潜力预示着精准医学的新时代 来自健康个体的序列信息可以预测和预防疾病。目前来看,两者的好处 在没有迹象的情况下进行基因组测序的危害很大程度上是假设的。在这个不确定的 环境中,数千人已经进行了倾向性个人基因组测序 (PPGS) 通过学术研究项目或商业服务,预计还有数千个 尽快这样做。这些人中的大多数人表面上都很健康,否则不会接受 GS 由于缺乏医疗必要性,但人们对非诊断测序的兴趣和活动日益增长 目的是加强疾病预防和健康管理。早期采用者构成了一个独特的群体 在此类测试广泛普及之前值得研究的个体。我们收集了一些 这些项目纳入一个研究联盟,并试行了一项基于网络的调查,以更好地了解医学、 无迹象表明对成年人进行测序的行为和经济影响。迄今为止,已有近 1,400 人 已受邀参加我们的个人基因组测序结果 (PeopleSeq) 联盟,其中 大约 50% 的人联系参加了这项初步研究。共有 658 人拥有 在披露 PPGS 结果后完成了这项初步调查,我们的目标是添加额外的 与新的测序小组合作,吸引了 2,400 名参与者。 在这个提案中,我们提出了一个建立在我们项目基础上的计划和方法。我们将 扩大志愿测序的机会,将来自代表性不足的潜在参与者纳入其中 通过提供教育计划,包括在几家历史上黑人机构进行测序,来保护少数族裔。 我们将随着时间的推移进行基于网络的调查,并采用混合方法,包括 对选定的个人进行定性访谈。作为第一个纵向队列研究 接受 PPGS 的健康成年人,我们将广泛评估 PPGS 的拟议风险和益处, 包括对医疗保健利用、心理影响和健康相关的短期和长期影响 结果。我们将确定获得了哪些类型的后续临床护理(以及如何承保) 经济上),并评估其是否具有医疗益处。我们的研究结果将为以下准备工作提供信息 随着越来越多的人寻求 DNA 测序并对其做出反应,医疗保健系统也随之发生变化。此外,我们还会收集 关于同意参与者的实际基因组报告,并将描述临床上的数量和性质 重大发现。我们将把这些基因组信息与有关后续行动的调查数据结合起来 探索 PPGS 提供有助于预防和健康的临床有用信息的潜力 管理。

项目成果

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Robert C. Green其他文献

Neighborhood topologies in central force optimization
Family genetic risk communication and reverse cascade testing in the BabySeq project
婴儿序列项目中的家庭遗传风险沟通和反向级联测试
  • DOI:
    10.1016/j.gim.2024.101350
  • 发表时间:
    2025-03-01
  • 期刊:
  • 影响因子:
    6.200
  • 作者:
    Melissa K. Uveges;Hadley Stevens Smith;Stacey Pereira;Casie Genetti;Amy L. McGuire;Alan H. Beggs;Robert C. Green;Ingrid A. Holm;Pankaj B. Agrawal;Alan H. Beggs;Wendi N. Betting;Ozge Ceyhan-Birsoy;Kurt D. Christensen;Dmitry Dukhovny;Shawn Fayer;Leslie A. Frankel;Casie A. Genetti;Chet Graham;Robert C. Green;Amanda M. Gutierrez;Bethany Zettler
  • 通讯作者:
    Bethany Zettler
Identification of functional variants from whole-exome sequencing, combined with neuroimaging genetics
通过全外显子组测序结合神经影像遗传学鉴定功能变异
  • DOI:
  • 发表时间:
    2013
  • 期刊:
  • 影响因子:
    11
  • 作者:
    K. Nho;Jason J. Corneveaux;Sungeun Kim;Hai Lin;S. Risacher;L. Shen;S. Swaminathan;V. Ramanan;Yunlong Liu;T. Foroud;M. Inlow;A. Siniard;Rebecca Reiman;P. Aisen;Ronald C. Petersen;Robert C. Green;C. Jack;Michael W. Weiner;C. Baldwin;K. Lunetta;Lindsay A. Farrer;S. Furney;Simon Lovestone;Andrew Simmons;Patrizia Mecocci;Bruno Vellas;Magda Tsolaki;I. Kloszewska;H. Soininen;B. McDonald;M. Farlow;B. Ghetti;M. Huentelman;A. Saykin
  • 通讯作者:
    A. Saykin
Liste de contrôle de l’Association canadienne des médecins d’urgence concernant le traitement de la sepsie: optimisation de la prise en charge de la sepsie au sein des services des urgences canadiens
加拿大脓毒症紧急医疗协会控制清单:加拿大脓毒症紧急服务奖的优化
  • DOI:
    10.2310/8000.2011.110610f
  • 发表时间:
    2012
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Dennis Djogovic;Robert C. Green;R. Keyes;Sara Gray;Robert Stenstrom;David Sweet;Jonathan S. Davidow;Edward Patterson;D. Easton;Shavaun MacDonald;Jonathan Gaudet;Michael R. Kolber;David Lechelt;D. Howes
  • 通讯作者:
    D. Howes
Genetic counselors’ perspectives on genomic screening of apparently healthy newborns in the United States
  • DOI:
    10.1016/j.gimo.2024.101885
  • 发表时间:
    2024-01-01
  • 期刊:
  • 影响因子:
  • 作者:
    Maya C. del Rosario;Kathleen B. Swenson;Stephanie Coury;Jennifer Schwab;Robert C. Green;Nina B. Gold
  • 通讯作者:
    Nina B. Gold

Robert C. Green的其他文献

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{{ truncateString('Robert C. Green', 18)}}的其他基金

Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
在不同健康婴儿群体中实施全基因组测序筛查
  • 批准号:
    10652609
  • 财政年份:
    2021
  • 资助金额:
    $ 80万
  • 项目类别:
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
在不同健康婴儿群体中实施全基因组测序筛查
  • 批准号:
    10442366
  • 财政年份:
    2021
  • 资助金额:
    $ 80万
  • 项目类别:
Experiences and Outcomes in Early Adopters of Predispositional Sequencing
倾向性测序早期采用者的经验和成果
  • 批准号:
    9789918
  • 财政年份:
    2018
  • 资助金额:
    $ 80万
  • 项目类别:
Impact of Disclosing Amyloid Imaging Results to Cognitively Normal Individuals
公开淀粉样蛋白成像结果对认知正常个体的影响
  • 批准号:
    9518218
  • 财政年份:
    2015
  • 资助金额:
    $ 80万
  • 项目类别:
Integration of Whole Genome Sequencing into Clinical Medicine
全基因组测序融入临床医学
  • 批准号:
    8914756
  • 财政年份:
    2011
  • 资助金额:
    $ 80万
  • 项目类别:
Integration of Whole Genome Sequencing into Clinical Medicine
全基因组测序与临床医学的整合
  • 批准号:
    8826154
  • 财政年份:
    2011
  • 资助金额:
    $ 80万
  • 项目类别:
Integration of Whole Genome Sequencing into Clinical Medicine
全基因组测序融入临床医学
  • 批准号:
    8236471
  • 财政年份:
    2011
  • 资助金额:
    $ 80万
  • 项目类别:
Integration of Whole Genome Sequencing into Clinical Medicine
全基因组测序融入临床医学
  • 批准号:
    9173270
  • 财政年份:
    2011
  • 资助金额:
    $ 80万
  • 项目类别:
Integration of Whole Genome Sequencing into Clinical Medicine
全基因组测序融入临床医学
  • 批准号:
    8914780
  • 财政年份:
    2011
  • 资助金额:
    $ 80万
  • 项目类别:
Integration of Whole Genome Sequencing into Clinical Medicine
全基因组测序与临床医学的整合
  • 批准号:
    8586322
  • 财政年份:
    2011
  • 资助金额:
    $ 80万
  • 项目类别:

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