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14.3 Applications of molecular techniques in epidemiology

2 min readLast Updated on July 25, 2024

Molecular techniques revolutionize epidemiology by enabling precise identification of disease factors at the genetic level. These methods, like PCR and genome-wide association studies, offer unprecedented insights into disease mechanisms and potential treatments.

However, molecular epidemiology isn't without challenges. While it provides high sensitivity in detecting pathogens, it also requires specialized equipment and expertise. Ethical considerations, such as genetic privacy and discrimination, are crucial when using these powerful tools in research and healthcare.

Molecular Techniques in Epidemiology

Principles of molecular epidemiology techniques

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  • Polymerase Chain Reaction amplifies specific DNA sequences using thermal cycling and DNA polymerase through denaturation, annealing, and extension steps
  • DNA Sequencing determines nucleotide order in DNA through Sanger sequencing or next-generation sequencing methods
  • Restriction Fragment Length Polymorphism uses restriction enzymes to cut DNA at specific sites and analyze variations in DNA sequences
  • Microarray Analysis enables simultaneous analysis of multiple genes using DNA probes on a solid surface (glass slides)

Molecular identification of disease factors

  • Genome-Wide Association Studies scan entire genomes for genetic variants identifying single nucleotide polymorphisms associated with diseases (type 2 diabetes)
  • Candidate Gene Studies focus on specific genes suspected to be involved in disease comparing genetic variants between cases and controls (BRCA1 in breast cancer)
  • Gene Expression Profiling measures activity of genes in different tissues or conditions identifying potential biomarkers for disease diagnosis or prognosis (cancer prognosis)
  • Epigenetic Studies analyze DNA methylation and histone modifications exploring gene-environment interactions in disease development (environmental toxins)

Advantages vs limitations in molecular epidemiology

  • Advantages
    • High sensitivity and specificity in detecting pathogens enables early disease detection (HIV)
    • Ability to identify novel disease-causing agents leads to new treatment targets (SARS-CoV-2)
    • Improved understanding of disease mechanisms at molecular level informs drug development
    • Potential for personalized medicine and targeted interventions optimizes patient outcomes
  • Limitations
    • High cost of equipment and reagents restricts access in resource-limited settings
    • Requires specialized training and expertise limiting widespread implementation
    • Potential for contamination and false-positive results necessitates strict quality control
    • Difficulty in interpreting complex genetic data may lead to misinterpretation
    • May not capture environmental or lifestyle factors influencing disease progression

Ethics of genetic information use

  • Informed Consent ensures participants understand genetic testing implications and addresses potential incidental findings
  • Privacy and Confidentiality protects genetic data from unauthorized access balancing research needs with individual privacy
  • Genetic Discrimination prevention stops misuse of genetic information in employment or insurance (GINA Act)
  • Return of Results decisions consider whether and how to communicate individual genetic findings and impact of revealing predispositions
  • Cultural Sensitivity respects diverse beliefs about genetic testing and addresses concerns of specific populations (indigenous groups)
  • Data Ownership and Sharing establishes clear policies on data access and ensures equitable benefit-sharing from genetic research

Term 1 of 20

Biomarkers
See definition

Biomarkers are biological indicators that can be measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention. They play a crucial role in epidemiology by providing data on disease risk, progression, and response to treatment, allowing researchers to better understand health outcomes and the impact of environmental exposures.

Key Terms to Review (20)

Term 1 of 20

Biomarkers
See definition

Biomarkers are biological indicators that can be measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention. They play a crucial role in epidemiology by providing data on disease risk, progression, and response to treatment, allowing researchers to better understand health outcomes and the impact of environmental exposures.

© 2025 Fiveable Inc. All rights reserved.
AP® and SAT® are trademarks registered by the College Board, which is not affiliated with, and does not endorse this website.

Term 1 of 20

Biomarkers
See definition

Biomarkers are biological indicators that can be measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention. They play a crucial role in epidemiology by providing data on disease risk, progression, and response to treatment, allowing researchers to better understand health outcomes and the impact of environmental exposures.



© 2025 Fiveable Inc. All rights reserved.
AP® and SAT® are trademarks registered by the College Board, which is not affiliated with, and does not endorse this website.

© 2025 Fiveable Inc. All rights reserved.
AP® and SAT® are trademarks registered by the College Board, which is not affiliated with, and does not endorse this website.
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