4. “Genetic Pharmacoepidemiology 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 Pharmacoepidemiology seeks to derive a statistical and
quantitative analysis of how genetics work in large groups.”
“ NOW, WHAT IS GENETIC
PHARMACOEPIDEMIOLOGY EXACTLY ??? “
5. “ FUNDAMENTALS OF GENETIC
PHARMACOEPIDEMIOLOGY:- ”
Traditionally, the study of the role of genetics in disease progresses through
the following study designs, each answering a slightly different question:
● 1) Familial aggregation studies: “ Is there a genetic component to the
disease, and what are the relative contributions of genes and
environment? “
● 2) Segregation studies: -” What is the pattern of inheritance of the
disease (e.g. dominant or recessive)? “
● 3) Linkage studies: -”On which part of which chromosome is the disease
gene located? “
6.
7. METHODS IN GENETIC
PHARMACOEPIDEMIOLOGY
● Association studies: “Which allele of which gene is
associated with the disease?
This traditional approach has proved highly
successful in identifying monogenic disorders and
locating the genes responsible.
8.
9. APPROACHES IN GENETIC
PHARMACOEPIDEMIOLOGY:-
Genetic epidemiological research follows 3 discreet steps, as outlined by M.Tevfik
Dorak:
1. Establishing that there is a genetic component to the disorder.
2. Establishing the relative size of that genetic effect in relation to other
sources of variation in disease risk (environmental effects such as
intrauterine environment, physical and chemical effects as well as
behavioral and social aspects).
3. Identifying the gene(s) responsible for the genetic component.
10.
11. NOW, WHAT IS MOLECULAR
PHARMACOEPIDEMIOLOGY ???
Molecular epidemiology can be defined as the application of the
techniques of molecular biology to the study of the epidemiology
of disease in human populations.
Molecular investigations, as we will see, have several aims and
can contribute to the elucidation of disease etiology.
12. MOLECULAR
PHARMACOEPIDEMIOLOGY:A BRIEF
LOOK
In molecular epidemiology, the study of the determinants of
disease focuses on causative, protective, or predisposing factors
(including infectious agents and a variety of environmental
exposures such as chemical or physical agents and lifestyle
habits) and host characteristics such as genetic susceptibility.
These studies are performed at the molecular level using the
techniques of molecular biology.
13. “ METHODS OF MOLECULAR
PHARMACOEPIDEMIOLOGY :-
1) Analytical methods :-
Since, the genome of a bacterial species fundamentally determines its
identity. Thus, gel electrophoresis techniques like pulsed-field gel electrophoresis
can be used in molecular epidemiology to comparatively analyze patterns of
bacterial chromosomal fragments and to elucidate the genomic content of
bacterial cells.
“ Pulsed-field gel electrophoresis is relied upon heavily in molecular
epidemiological studies. “
15. “APPLICATIONS OF MOLECULAR
PHARMACOEPIDEMIOLOGY “
Molecular epidemiology allows for an understanding of the molecular
outcomes and implications of diet, lifestyle, and environmental exposure,
particularly how these choices and exposures result in acquired genetic
mutations and how these mutations are distributed throughout selected
populations through the use of biomarkers and genetic information.
16. APPLICATIONS INCLUDE:-
● Molecular surveillance of disease risk factors
● Measuring the geographical and temporal distribution of disease risk factors
● Characterizing the evolution of pathogens and classifying new pathogen species
17.
18. “ LIMITATIONS OF GENETIC AND MOLECULAR
METHODS IN PHARMACOEPIDEMIOLOGY ”
Limitations of molecular epidemiological studies are similar in nature to
those of generic epidemiological studies, that is, samples of
convenience -
both of the target population and genetic information, small sample
sizes, inappropriate statistical methods, poor quality control, and poor
definition of target populations.