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
- 来源:
- 关键词:AdultAdvocateAfrican AmericanAgeAmericanAttentionBenefits and RisksCaringClinicalClinical Practice GuidelineCommunity Health NetworksConsentDNA SequenceDNA sequencingDataData AggregationDiagnosisDiseaseEnrollmentEnvironmentEuropeanFoundationsFrequenciesFundingFutureGeneral PopulationGenetic Predisposition to DiseaseGenomicsGoalsHealthHealth ExpendituresHealthcare SystemsHistorically Black Colleges and UniversitiesIatrogenesisIndividualIndustryInterviewInvestigationKnowledgeLeadLife StyleLongitudinal cohort studyMedicalMedicineMethodsMorbidity - disease rateNatureOnline SystemsOutcomeParticipantPatient Self-ReportPatientsPlanning TechniquesPopulationPractice GuidelinesPredispositionPreparationPreventionProcessProviderPsychological ImpactRaceReportingResearchResearch Project GrantsRiskServicesSurveysTestingTimeUnderrepresented GroupsUnderrepresented MinorityUnited States National Institutes of Healthbehavioral economicsclinical careclinical practiceclinically relevantclinically significantcohortcostdiet and exercisedisorder preventioneconomic impactexperiencefollow-upgenetic informationgenome sequencinghealth care service utilizationhealth managementinnovationinterestprecision medicinepreventprogramsrecruitresearch studysexvolunteer
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.
项目摘要/摘要
基因组测序(GS)的潜力预示着精确医学的新时代
来自健康个体的序列信息可以预测和预防疾病。目前,这两个好处
而在没有适应症的情况下进行基因组测序的危害在很大程度上是假设的。在这不确定的情况下
环境,几千个人已经有了前置性的个人基因组测序
(PPG),通过学术研究项目或商业服务,预计还会有数千人
要尽快做到这一点。这些人中的大多数显然是健康的,否则就不会得到GS
由于缺乏医疗需要,但对非诊断性疾病的测序越来越感兴趣和活跃
目的加强疾病预防和健康管理。早期采用者构成了一个独特的队列
在这样的测试普及之前,值得研究的个人。我们收集了一些
这些项目组成了一个研究联盟,并试行了一项基于网络的调查,以更好地了解医学、
在没有指征的情况下对成人进行排序的行为和经济影响。到目前为止,有近1400人
已被邀请参加我们的个人基因组测序结果(PeopleSeq)联盟,与
在这项初步研究中,约有50%的人联系了他们。总共有658个人
在PPGS结果公布后完成了这项初步调查,我们的目标是增加一个额外的
2400名参与者与新的测序小组合作。
在这个提案中,我们提出了一个建立在项目基础上的计划和方法。我们会
扩大志愿参加排序的机会,将代表人数不足的潜在参与者包括在内
通过提供教育项目,包括在几个历史上属于黑人的机构进行排序,来保护少数族裔。
随着时间的推移,我们将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,大多数情况下
对于接受PPGS的健康成年人,我们将广泛评估PPGS的拟议风险和好处,
包括对医疗保健利用的短期和长期影响、心理影响和与健康相关的
结果。我们将确定获得了哪些类型的后续临床护理(以及如何覆盖
经济上),并评估它是否在医疗上有益。我们的研究结果将为准备工作提供参考
随着越来越多的人寻找DNA测序并对其做出反应,医疗保健系统也变得越来越重要。此外,我们还将收取
关于同意的参与者的实际基因组报告,并将表征临床上
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的潜力,以提供有助于预防和健康的临床有用信息
管理层。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Robert C. Green其他文献
Neighborhood topologies in central force optimization
- DOI:
10.1109/ssci.2017.8285384 - 发表时间:
2017-11 - 期刊:
- 影响因子:0
- 作者:
Robert C. Green - 通讯作者:
Robert C. Green
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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