选择,优化和验证10个慢性病多基因风险评分,以在美国多种不同人群中临床实施
Niall J Lennon1, Leah C Kottyan2, Christopher Kachulis3
1Broad Institute of MIT and Harvard, Cambridge, MA, USA. nlennon@broadinstitute.org.
Nature medicine
|February 20, 2024
概括
电子医疗记录和基因组学 (eMERGE) 网络开发了一个框架,用于返回多基因风险得分 (PRS) 在多种人群中. 这使得在临床环境中对心脏病和癌症等疾病的基因组信息风险评估成为可能.
科学领域:
- 基因组学和精准医学精准医学
- 临床实施科学 临床实施科学
- 生物信息学是一种生物信息学.
背景情况:
- 多基因风险评分 (PRS) 是有前途的,但在不同人群和临床解释中面临挑战.
- 实施PRS需要解决预测性绩效差异,并为提供者和患者制定有效的沟通策略.
研究的目的:
- 开发和测试一个框架和管道,用于在多样化的临床研究群体中返回基于PRS的基因组信息风险评估.
- 为具有临床实用性的疾病选择和实施PRS,重点关注心脏代谢疾病和癌症.
- 建立一个监管合规和临床报告PRS结果的途径.
主要方法:
- 在临床研究中,为25000名不同的成人和儿童返回PRS结果开发了一个框架.
- 根据性能,可操作性和实用性,选择了PRS实施的十个条件,优先考虑非洲和西班牙裔人口中的证据.
- 创建了一个临床PRS实施管道,包括使用多样化的队列数据进行得分转移,验证和遗传祖先校准.
主要成果:
- 建立了临床PRS实施的管道,包括验证和验证流程.
- 利用遗传祖先数据对PRS模型进行校准,提高了不同人群的表现.
- 为提供者开发了PRS临床报告和基因组信息风险评估框架.
结论:
- eMERGE网络的经验为在不同的临床环境中实施基于PRS的测试提供了一个模型.
- 开发的框架解决了PRS临床实用性的关键挑战,包括不同组的表现和结果解释.
- 这项工作有助于将基因组风险信息纳入常规临床护理.
更多相关视频
07:31Implementation of a Real-Time Psychosis Risk Detection and Alerting System Based on Electronic Health Records using CogStack
Published on: May 15, 2020
7.1K
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
13.0K
相关概念视频
01:11Genome-wide Association Studies-GWAS
13.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.4K
01:18Polygenic Traits
65.8K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
65.8K
02:46Genetic Screens
4.9K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.9K
01:23Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
126
Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
126