genetic diseases, PSM

1. Made by- Preeti
Karn Para – H2
Roll no.- 89
Role of community
medicine in control of
genetic diseases

2. Health of an individual is based on
 Uncontrollable factors (genetics, gender,
predisposition to a disease).
 Controllable factors (diet, smoking status,
exercise levels).

3.  Over the last few decades, a significant
transition has taken place in the etiology
of diseases affecting mankind.
 Environmentally related disorders have
decreased and genetic disorders and
non communicable disorders have
become a major cause of morbidity and
mortality.

4. GENETICS
 Study of inheritance dealing with the transmission
of hereditary characters from one generation to
another.
 Human genetics is concerned with the inheritance
of human traits and their relationship to the
human health.
 Deals with the hereditary disorders and provide
key to their prevention and control.

5. Prevalence of Genetic
Disorders
Prevalence of genetic disorders
(excluding multifactorial genetic
disease)- 7/1000 live births.
Out of 7,
- 4 sex linked disorders.
- 2 Autosomal disorders.
- other characterized by
balanced or unbalanced chromosomal
rearrangements.

6. Genetic Disorders

7. Diseases Associated with Genetic
Predisposition
 Cancer
 Coronary heart disease
 Diabetes (Insulin dependent)
 Alzheimer’s disease

8. Biological Determinant
Genetics Predisposition
to disease
 A person may be at increased risk of inheriting a disease or
condition if they have a biological parent who has had the
disease.
 Genetics can have an influence on a persons risk to certain
conditions or diseases.
 Ex. If your parent has high cholesterol, you are at a higher
risk of developing high cholesterol.
 Examples of diseases- genetic predisposition Alzheimer’s
disease (before the age of 65)
 Migraine headaches
 Type 1 and 2 diabetes
 CVD – High blood pressure, hypertension
 Certain cancers – (including breast and prostate)

9. Prevention & Control of Genetic
Disorders
1. Prevention
2. Screening
3. Counseling

11. Specific Protection
 From X-Ray
 Early diagnosis by :-
- Detection of carriers
- Prenatal diagnostics
- Amniocentesis
- New born screening
- Pre clinical case recognition

12. Screening
 Applied at Prenatal, Neonatal & general population
levels.
 Prenatal & Neonatal screening – ideal approach for
early diagnosis & prompt treatment of hereditary
disorders.

13. Prenatal Screening
 Prenatal screening by:-
- Ultrasonography
- Amniocentesis(14-16 weeks of pregnancy)
diagnosis of spina bifida & other neural tube
abnormalities.
- Chorionic villus sampling technique(10-12
weeks of pregnancy)- both biochemical and
structural abnormalities can be detected.

14. Neonatal Screening
 Help in detecting hereditary disorders
like:-
- Phenylketonuria
- Sickle cell Anemia
- Duchenne muscular
dystrophy

15. Population Screening
 To identify individuals at risk of developing
hereditary disorders.
 Objective :-
-To make presymptomatic diagnosis for
arresting the progress of such disease by timely
preventive intervention.
- Only such disorders should be
Identified for which measures for prevention &
treatment are available.

16. Genetic counseling :- An integral part of
management of patients and families with
genetic disorders.
- Retrospective
- Prospective
Genetic Counseling

17. Essential Components
of Counseling
 History of family
 background construction
 Clinical diagnosis
 Confirmatory diagnosis
 Calculation reoccurrence
 Counseling
 Follow up

18. Reaching accurate diagnosis
 Family history
 Physical/Clinical examination
 Cytogenetic studies/Radiology
 Laboratory/DNA analysis

19.  Estimation of recurrence risk:-
- Family pedigree
- Applying various
methods
- Risk calculation
- Bayesian
- Mendels

20.  Genetic Counseling :-
- Available options
- Risk calculation
- New developments
- Disease course
- Treatment availability

21.  Decision Making :-
- Knowledge of disease
recurrence
- Available options
- Family pressure
- Religious beliefs
- Social status
- Economic status
- Community influence

22. Gene Therapy
Means introduction of gene sequence
into cell with aim of modifying the cell
behavior in a clinically relevant fashion.
Used in many ways :-
To correct genetic mutation
To kill a cell
To modify susceptibility
The gene may be introduced using a virus
or by means of a lipid or receptor
targeting.

23. Eugenics
 Idea of hereditary improvement by selective breeding
propagated by Galton.
 Can be defined as improvement of human species or race by
selective breeding.
 Positive Eugenics :-
- Applied to animals for increasing milk and have better
quality animals
- Improving yield of grains
- Genetic manipulation for human welfare and survival.
 Negative Eugenics :-
- Example – Purify german race by eliminating
genetically poor
individuals.

24. Euthenics
 Means providing appropriate / suitable
environment for genotype to express
themselves fully.
 Measures to improve the environment
in order to improve health,
appearance, behavior, or well being or
society.
 Lead an independent existence.

25. Genetic Services
 MTP
 PC-PNDT act
 Antenatal clinics
 Immunization
 Contraception
 Iron and folic acid supplement
 USG
 ICDS programme

26. REFERENCES
 Park’s Textbook of Preventive and
Social Medicine
 www.wikipedia.com
 www.emedicine.medscape.com