分子遗传研究中的临床流行病学质量:需要方法论标准
S T Bogardus1, J Concato, A R Feinstein
1Department of Medicine, Yale University School of Medicine, New Haven, Conn 06504, USA. bogardus@gwpo.ynhh.com
JAMA
|June 1, 1999
概括
临床期刊上的分子遗传研究往往缺乏流行病学质量,大多数研究都未能达到关键的方法标准. 改善这些标准对于实现遗传检测的全部好处至关重要.
科学领域:
- 临床流行病学临床流行病学
- 分子遗传学 分子遗传学
- 医学研究方法学 医学研究方法学
背景情况:
- 分子遗传分析已经取得了显著的进步,导致各种医疗条件的商业化测试.
- 然而,分子遗传研究中的临床流行病学质量没有得到足够的关注.
- 这种差距影响了基因发现在临床实践中的可靠应用.
研究的目的:
- 批判性地评估已发表的分子遗传研究的临床流行病学质量.
- 在这些研究中发现方法标准的缺陷.
- 评估遵守临床流行病学的既定原则.
主要方法:
- 一项横截面研究分析了1995年发表在一般临床期刊上的原始研究文章.
- 根据讨论分子遗传技术,涉及至少10名患者,并提出推断结论,选择了40篇文章.
- 评估了符合七个主要流行病学标准的情况:可重现性,客观性,病例/比较组划分和充分性以及定量总结.
主要成果:
- 分析的文章中只有12.5%符合所有七个流行病学标准,25%符合除一个以外的所有标准.
- 显著多数 (62.5%) 没有遵守两个或两个以上的标准,22.5% 没有遵守四个或五个标准.
- 在可重现性 (62.5%) 和客观性 (67.5%) 中发现了常见的缺陷,而案例/比较组的充分性和定量总结通常得到了良好报道.
结论:
- 尽管实验室取得了进展,但临床期刊上的分子遗传研究经常表现出方法上的遗漏和流行病学的缺陷.
- 缺乏对基本流行病学标准的遵守,阻碍了对遗传发现的准确解释和应用.
- 加强对临床流行病学原则的关注对于确保实现分子遗传测试的预期好处至关重要.
相关概念视频
Single Nucleotide Polymorphisms-SNPs
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,...
Data Validation
Method validation is a crucial process in analytical chemistry designed to confirm that a given method consistently produces reliable and high-quality results. This process is essential when a method is applied to different sample matrices or when procedural modifications are made, ensuring that the results meet acceptable standards across various applications.
Key parameters for method validation include:
Key parameters for method validation include:
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
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, controlled...
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast, controlled...
Bias in Epidemiological Studies
Biases can arise at various stages of research, from study design and data collection to analysis and interpretation. Recognizing and addressing these biases is essential to ensure the validity and reliability of epidemiological findings.Broadly speaking, biases in epidemiology fall into three main categories: selection bias, information bias, and confounding. A more detailed description of possible biases is:
Statistical Methods for Analyzing Epidemiological Data
Epidemiological data primarily involves information on specific populations' occurrence, distribution, and determinants of health and diseases. This data is crucial for understanding disease patterns and impacts, aiding public health decision-making and disease prevention strategies. The analysis of epidemiological data employs various statistical methods to interpret health-related data effectively. Here are some commonly used methods:
Investigation of Disease Outbreaks
Multistate foodborne outbreaks pose significant public health risks and require meticulous investigation to identify sources and implement control measures. The Centers for Disease Control and Prevention (CDC) utilizes a dynamic seven-step process for these investigations, integrating data from laboratories, interviews, and environmental assessments to protect public health.Outbreak Detection: The detection of multistate outbreaks typically begins with PulseNet, the CDC's national laboratory...


