2. Health of an individual is based on
Uncontrollable factors (genetics, gender,
predisposition to a disease).
Controllable factors (diet, smoking status,
exercise levels).
3. 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.
4. Diseases Associated with Genetic
Predisposition
Cancer
Coronary heart disease
Diabetes (Insulin dependent)
Alzheimer’s disease
5. Prevention & Control of
Genetic Disorders
1. Prevention
2. Screening
3. Counseling
8. Screening
Applied at Prenatal, Neonatal & general population
levels.
Prenatal & Neonatal screening – ideal approach for
early diagnosis & prompt treatment of hereditary
disorders.
9. Prenatal Screeni ng
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.
10. Neonatal Screenin g
Help in detecting hereditary disorders
like:-
- Phenylketonuria
- Sickle cell Anemia
- Duchenne muscular
dystrophy
11. Population Screeni ng
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.
12. Genetic counseling :- An integral part of
management of patients and families with
genetic disorders.
- Retrospective
- Prospective
Genetic Counseling
13. Essential Componen
of Counseling
ts
n
e
History of family
background constructio
Clinical diagnosis
Confirmatory diagnosis
Calculation reoccurrenc
Counseling
Follow up
15. Genetic Counseling :-
- Available options
- Risk calculation
- New developments
- Disease course
- Treatment availability
16. Decision Making :-
- Knowledge of disease
recurrence
- Available options
- Family pressure
- Religious beliefs
- Social status
- Economic status
- Community influence
19. General concept
Genetic:Branchof sciencewhich studiesgenes
and thepatternof inheritanceof particular
diseases
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Inheritance:Thepassingof familial elements
fromonegenerationtothenext.
20.
21. Pattern of inheritance
Human cellcontain 23pairs
of chromosomes.22pairs
autosomal and one pair sex
chromosomes.
23chromosomesinherited
from motherand 23
chromosomesfromfather.
Sexchromosomes:XX for
femaleand XY formale.
23. Genetic counseling
Geneticcounselingis aprocessby which
patientsorrelatives,atrisk of aninherited
disorder,are advised of theconsequences
and natureof thedisorder, the probability
of developing or transmittingit and the
optionsopen tothemin managementand
family planning in ordertopreventor
avoid it.
24. Aims of genetic counseling
Thegeneticcounselingaimstoprovide thefamily with
completeand accurateinformation about genetic
disorders.
1. Promotinginformed decisionsby involved family
members
2. Clarifying thefamily‟soptions available
treatmentand prognosis
3. Explaining alternativestoreducetheriskof genetic
disorders
4. Decreasingtheincidenceof geneticdisorders
5. Reducing theimpactof thedisorders
25. Function of genetic
counselling session
Provide information
Available solution
Help persontounderstandand cope with
hiscondition
Testingtheriskof recurrence