在哥伦比亚实施多基因风险分层和基因组咨询:嵌入式混合方法研究
Cesar Augusto Buitrago1, Melisa Naranjo Vanegas1, Harvy Mauricio Velasco1
1Personalized Medicine Group, Gerencia de Biociencias, Ayudas Diagnósticas Sura, Medellín 050015, Colombia.
Journal of personalized medicine
|August 27, 2025
概括
一个多基因风险评分 (PRS) 模型与远程基因咨询相结合,有效地分层了哥伦比亚女性的乳腺癌风险. 这种方法改善了对预防行为的理解和参与,
科学领域:
- 基因组学
- 公共卫生
- 癌症学
背景情况:
- 乳腺癌是拉丁美洲重要的公共卫生问题.
- 对个性化风险评估工具的限制阻碍了预防工作.
- 这项研究解决了哥伦比亚可访问的风险分层的需求.
研究的目的:
- 评估基于多基因风险评分 (PRS) 的分层模型的实施.
- 评估乳腺癌风险的远程基因咨询的整合.
- 分析该模型对哥伦比亚女性风险感知和预防行为的影响.
主要方法:
- 一项嵌入式混合方法的观察研究在哥伦比亚的梅德林 (2023年).
- 涉及1997名年龄在40至75岁的妇女进行临床PRS测试.
- 干预包括PRS风险分类,个性化评估和远程咨询.
主要成果:
- 多基因风险评分 (PRS) 确定9. 7%为高风险和46%为低风险.
- 更健康的生活方式与较低的PRS类别相关; 身体活动具有保护作用.
- 远程辅导实现了93%的效果和85%的满意度;改善了风险理解和参与度.
结论:
- 在中等收入群体中,
- 这种综合方法有助于加强乳腺癌预防策略.
- 这些发现支持基于PRS的风险分层和咨询的可扩展性.
更多相关视频
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.0K
08:15gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
Published on: October 6, 2014
12.3K
相关概念视频
Polygenic Traits
66.5K
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...
66.5K
Human Genetics
716
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
716
Cancer Prevention
6.3K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.3K
Genome-wide Association Studies-GWAS
14.1K
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...
14.1K
Single Nucleotide Polymorphisms-SNPs
15.8K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.8K
Genomics
37.4K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
37.4K
