This document provides an overview of clinical epidemiology and genetic epidemiology. Clinical epidemiology is the science of making predictions about individual patients by studying groups of similar patients, and is used to aid clinical decision making. It focuses on applying epidemiological methods to assess screening, diagnosis, and treatment effectiveness. Genetic epidemiology studies the role of genetics in health and disease in families and populations, and the interaction between genetics and environment. Its goals are to discover genetic susceptibility and identify gene-environment interactions. Both fields are used for disease discovery, characterization, prevention and control.

1. Concept of Clinical and
Genetic Epidemiology and
their uses

2. Presented to Presented By
• Bikram Singh Dhami
• Binita Adhikari

3. Outline of presentation
 Introduction to epidemiology
1. Clinical Epidemiology
 Introduction
 Health outcomes of clinical epidemiologic studies
 Method of clinical epidemiology
 Uses of epidemiology
2. Genetic epidemiology
 Introduction
 Goals
 Aims
 Uses of genetic epidemiology
 References

4. Epidemiology
Derived from Greek word ‘Epidemic’
• Epi- Among
• Demos- People and,
• Logos- Study
Epidemiology is the quantitative study of the distribution and determinants of
health related states and events in a specified human population, And the
application of this study to control of the health problems.
John M Last (2006)

5. Clinical Epidemiology
Introduction
 The science of making predictions about the individual patient by counting
clinical events in similar Patients, using strong scientific methods for
studies of groups of patients to ensure that the predictions are accurate.
 Used as an aid to clinical decision making
 Lead to valid conclusion by avoiding being misled by systematic error and
chances

6. Contd…
 Clinical epidemiology was introduced by John R. Paul in 1938. According
to him clinical epidemiology is , “a new basic Science for preventive
medicine”
 Clinical epidemiology focuses on patients and the application of
epidemiologic methods to assess the efficacy of screening, diagnosis and
treatment in the clinical settings.
 used to identify the health consequences of employing a test or
administering a treatment.

7. Health outcomes of clinical epidemiologic
studies
Outcomes of disease (The five D’s)
• Death
• Disease
• Discomfort
• Disability
• Dissatisfaction

8. Method of clinical epidemiology
 Formulate questions
 Choose study design
 Choose study population and sample
 Collect and analyze data
 Interpret Results

9. Uses of clinical epidemiology
 Diagnosis
 Frequency/Occurrence
 Risk Prevention
 Prognosis
 Treatment and control
 Finding causes
 Source of transmission

10. Genetic Epidemiology

11. Introduction
 Genetic epidemiology is the study of the role of genetic factors in
determining health and disease in families and in populations, and the
interplay of such genetic factors with environmental factors.
 Genetic epidemiology seeks to derive a statistical and quantitative analysis
of how genetics work in large group
 A science that deals with the etiology, distribution and control of disease in
families and with inherited causes of diseases in population

12. Contd…
Genetic epidemiology
 Is based on population genetics
 Utilizes statistical techniques to evaluate the genetic aspects of chronic
disease
 Little or no emphasis on environmental risk factors
 Includes the fundamental interaction between genetic variation with the
environment in occurrence of disease

13. Genetic epidemiology
Goals
 To Discover and characterize genetic susceptibility to health and disease in
human populations
 To identify interaction between genetic and environmental factors
Aims
 Gene Detection
 Gene Characterization

14. Uses of Genetic Epidemiology
 Gene discovery
1. Linkage analysis
2. Family based association studies
 Scan for the genotype that potentially contribute most to disease occurrence
in population
 Evaluate disease etiologic, diagnostic, and prognostic heterogeneity

15. References
 Kenneth j. Rothman, s, Greenland and Timothy l. Lash, 2010. Modern Epidemiology, third edition,
wolters Kluwer India Pvt. Ltd.
 https://www.hopkinsmedicine.org/gim/research/method/gen_epi.html
 https://www.coursera.org/learn/clinical-epidemiology
 https://en.wikipedia.org/wiki/Clinical_epidemiology
 https://www.jhsph.edu/departments/epidemiology/tracks/genetic-epidemiology/index.html