EHR-based Genomic Discovery and Implementation (Pediatric Participants Supplement)

基于 EHR 的基因组发现和实施（儿科参与者补充材料）

• 批准号: 10849461
• 负责人: Iftikhar J Kullo
• 金额: $ 14.53万
• 依托单位: MAYO CLINIC ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-08-15 至 2025-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10849461
• 关键词: Adolescent; Adolescent Medicine; Asthma; CLIA certified; Childhood; Clinic; Clinical; Cohort Studies; Communication; Communities; DNA; Disclosure; Disease; Electronic Health Record; Elements; Family; Genetic; Genomic medicine; Genomics; Genotype; Guidelines; Health Personnel; Individual; Information Management; Informed Consent; Laboratories; Link; Measures; Methods; Minnesota; Non-Insulin-Dependent Diabetes Mellitus; Obesity; Outcome; Outcome Assessment; Parents; Participant; Persons; Population; Printing; Provider; Public Health; Recommendation; Recording of previous events; Reporting; Resources; Risk; Risk Estimate; Risk Factors; Risk Management; Risk Reduction; Saliva; Schools; Testing; Venipunctures; Work; care outcomes; clinical decision support; clinical risk; genome-wide; high risk; improved; modifiable risk; novel; polygenic risk score; prospective; recruit; transmission process; type I and type II diabetes; uptake

PROJECT SUMMARY In this supplemental application we propose to build on our work in eMERGE IV to recruit an additional 250 adolescents who will undergo genomic testing in a CLIA laboratory (Broad). Thus, the pediatric study cohort at Mayo will comprise a total of 350 adolescent participants attending the community pediatric and adolescent medicine clinic and local schools. We will estimate polygenic risk scores (PRSs) for 4 diseases that pose a significant public health burden including asthma, obesity, type 1 diabetes, and type 2 diabetes. DNA will be sent for CLIA-certified genomic testing, and we will calculate candidate loci or genome wide PRS using novel methods to adapt these to specific genetic ancestry groups. Validated PRS will be combined with family history and clinical risk scores to create comprehensive risk profiles that will be reported to participants and providers and placed in the electronic health record (EHR) with linkage to clinical decision support (CDS) that includes guideline-based risk-management information. For participants who are at significantly higher risk for developing at least 1 of the 4 diseases, results will be disclosed in-person followed by assessment of outcomes including new tests ordered, risk reduction measures, and changes in modifiable risk factors. Our focus on PRS brings genomic medicine to the population. Our specific aims include: 1) Recruit 250 additional adolescent participants (total n=350) who will undergo genomic testing for PRS in a CLIA laboratory; 2) Integrate PRS in the EHR with linkage to CDS that incorporates recommendations for healthcare providers and develop scalable methods for disclosing PRS results to participants; 3) Estimate PRS for 4 diseases in 350 adolescent participants and compute comprehensive risk profiles (that include PRS) for return to participants; 4) Assess outcomes following return of results.

项目摘要 在这份补充申请中，我们建议在eMERGE IV工作的基础上再招募250名 将在CLIA实验室（布罗德）接受基因组检测的青少年。因此，儿科研究队列在 马约将包括总共350名参加社区儿科和青少年 诊所和当地学校。我们将估计4种疾病的多基因风险评分（PRS）， 严重的公共卫生负担，包括哮喘、肥胖、1型糖尿病和2型糖尿病。DNA将 发送CLIA认证的基因组检测，我们将使用新的计算候选基因座或全基因组PRS 方法来适应这些特定的遗传祖先群体。经确认的PRS将与系列结合使用 历史和临床风险评分，以创建将报告给参与者的全面风险概况， 提供者，并放置在电子健康记录（EHR）中，与临床决策支持（CDS）相关联， 包括基于指南的风险管理信息。对于风险显著较高的参与者， 患上4种疾病中至少1种，将亲自公布结果，然后评估 结果包括新的测试命令，风险降低措施，并在可修改的风险因素的变化。我们 对减贫战略的关注为人们带来了基因组医学。我们的具体目标包括：1）招聘250名 将在CLIA实验室接受PRS基因组检测的青少年受试者（总计n=350）; 2） 将PRS整合到EHR中，并与CDS链接，CDS包含针对医疗保健提供者的建议， 制定可扩展的方法，向参与者披露PRS结果; 3）估计350种疾病中4种疾病的PRS 青少年参与者和计算全面的风险概况（包括减贫战略），以返回给参与者; 4)在返回结果后评估结果。

项目成果

Making pretest genomic counseling optional: lessons from the RAVE study.

进行预测试的基因组咨询可选：从Rave研究中的课程。

• DOI: 10.1038/gim.2017.240
• 发表时间: 2018-10
• 期刊: Genetics in medicine : official journal of the American College of Medical Genetics
• 作者: Sutton EJ;Kullo IJ;Sharp RR
• 通讯作者: Sharp RR

Identifying Abdominal Aortic Aneurysm Cases and Controls using Natural Language Processing of Radiology Reports.

使用放射学报告的自然语言处理识别腹主动脉瘤病例和对照。

• 发表时间: 2013
• 期刊: AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science
• 作者: Sohn,Sunghwan;Ye,Zi;Liu,Hongfang;Chute,ChristopherG;Kullo,IftikharJ
• 通讯作者: Kullo,IftikharJ

Neutral, Negative, or Negligible? Changes in Patient Perceptions of Disease Risk Following Receipt of a Negative Genomic Screening Result.

中性、负面或可忽略不计？

• DOI: 10.3390/jpm10020024
• 发表时间: 2020
• 期刊: Journal of personalized medicine
• 作者: Stuttgen,Kelsey;Pacyna,Joel;Kullo,Iftikhar;Sharp,Richard
• 通讯作者: Sharp,Richard

Leveraging the electronic health record to implement genomic medicine.

• DOI: 10.1038/gim.2012.131
• 发表时间: 2013-04
• 期刊: Genetics in medicine : official journal of the American College of Medical Genetics

Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening.

• DOI: 10.1038/s41436-020-01079-5
• 发表时间: 2021-05
• 期刊: Genetics in medicine : official journal of the American College of Medical Genetics
• 作者: Pacyna JE;Shaibi GQ;Lee A;Byrne JO;Cuellar I;Sutton EJ;Hernandez V;Lindor NM;Singh D;Kullo IJ;Sharp RR
• 通讯作者: Sharp RR