Gene counselling a developing field has more effect on both the developing and developed countries. So this ppt provides the basic idea about genetic counselling

1. GENE COUNCILLING
BY
LAKSHMI S

2. GENETIC COUNSELING
Genetic counseling is a
communication process
between a healthcare
professional trained in genetics
and an individual or family
affected by or at risk for an
inherited disorder.

3. GOALS
• Promoting awareness of the medical
facts of the genetic condition
• Explaining the role of heredity in the
expression of the condition and its risk
of recurrence
• Discussing the options available for
dealing with the disorder
• Assisting families in choosing the
options that are most appropriate for
them.
• Providing psychosocial support

4. WHO IS A GENETIC COUNSELOR
• Genetic counselors are professionals
trained in the fields of genetics and
psychosocial counselling.
• They act as advocates for families
affected by genetic disorders
• They help patients understand the
concepts of heredity
• Assist them in planning for treatment of
affected individuals as well as providing
options for future offspring.

5. ACTIVITIES OF GENETIC COUNSELOR
• Review family and medical history.
• Figure out if the patient or their family members are at risk for disease.
• Explain how genetic conditions are passed down through families.
• Find and give information about genetic conditions.
• Provide information about testing options and help patients decide
whether they want testing.
• Offer guidance to help the patient make informed choices or life plans.
• Help patients find referrals to medical specialists, advocacy , support
networks, and other resources.

7. FUNCTION OF GENETIC COUNSELLING
• Provide information
• Available solution
• Help person to understand
and cope with his condition
• Testing the risk of
recurrence

8. INDICATIONS FOR GENETIC COUNSELLING
1. Hereditary disease in a patient or family
2. Birth defects
3. Mental retardation
4. Advanced maternal age
5. Early onset of cancer in family
6. Miscarriages
7. Malformations
8. Tendency to develop a neurologic conditions

9. THE GENETIC COUNSELING PROCESS
• Information gathering
- Contact with patient (review reason for appt)
- Medical and family history
- Records review
• Establishing or verifying a diagnosis
- History
- Physical exam (not by GC)
• Risk assessment
- Pedigree
- Recurrence risk of known condition
- Empiric recurrence risk
- Testing
• Information giving
- Discussion of natural history of a
diagnosis
- Decision making
• Psychosocial assessment and
counseling
- On-going client support
• Follow up
- Support resources

10. 2 TYPES OF GENETIC COUNSELING
1.Prospective
• This allows for the true prevention of disease.
• This approach requires identifying
heterozygous individuals for any particular
defect by screening
• Explaining to them the risk of their having
affected children if they marry another
heterozygote for the same gene.
• 2.Retrospective
• Most genetic counselling at present is
retrospective, i.e, the hereditary disorder has
already occurred within the family .
• The methods which could be suggested
under retrospective genetic counselling are:
 Contraception
 Pregnancy termination.

11. EUGENICS
• It is the science of improving the human species by
selectively mating people with specific desirable
hereditary traits.
• It aims to reduce human suffering by “breeding out”
disease, disabilities and so- called undesirable
characteristics from the human population.
• Early supporters of eugenics believed people inherited
mental illness, criminal tendencies and even poverty, and
that these conditions could be bred out of the gene pool.

12. HISTORY
• In 1883, Sir Francis Galton (British scholar and cousin of Charles
Darwin), first used the term eugenics, meaning “well-born.”
• Galton believed that the human race could help direct its future by
selectively breeding individuals who have “desired” traits.
• This idea was based on Galton’s study of upper class Britain.
• Following these studies, Galton concluded that an elite position in
society was due to a good genetic makeup.
• While Galton’s plans to improve the human race through selective
breeding never came to fruition in Britain, they eventually took
sinister turns in other countries.

16. NEW- EUGENICS
Application
• Defective genes
• Silencing
• Activating
• Terminating pregnancy
• Sperm bank

17. EUTHENICS
• Euthenics is the study of the improvement of human
functioning and well-being by improvement of living
conditions.
• (Environment) Affecting the "improvement" through
altering external factors such as education and the
controllable environment, including the prevention and
removal of contagious disease and parasites,
environmentalism, education regarding employment,
home economics, sanitation, and housing.

20. Examples of Euthenics
• Water treatment plants - clean drinking water
• Vaccines prevent people from developing certain diseases.
• Genetically modified
• Vegetables and fruits that grow faster and stay edible for a longer period of
time.
• Naturally repel insects to prevent them from consuming the food before we do.
• Warnings on alcohol and cigarette containers
• Adding iodine to salt (to prevent thyroid deficiency)
• Vitamin D to milk (to prevent rickets)
• Folic acid to cereal products (to prevent spina bifida- spinal cord don't form
properly.)
• Vaccinating women for rubella to prevent rubella in the fetus (rubella-

21. EUPHENICS
• Euphenics, which literally means "good appearance"
or "normal appearing", is the science of making
phenotypic improvements to humans after birth,
generally to affect a problematic genetic condition.
• Euphenics deals with improvement of human race by
genetic engineering.

23. HISTORY
• Euphenics Joshua Lederberg (1960) invented the term euphenics to
differentiate the practice from eugenics, which was widely unpopular at the
time.
• He emphasized that the genetic manipulation he described was intended
to work on phenotype rather than genotype
• he felt it was more feasible to positively change an individual's genetics
rather than attempt to change the course of evolution as eugenics
proposed.
• Theodosius Dobzhansky, an outspoken proponent of euphenics, argued
that by improving genetic conditions so that people could live normal,
healthy lives, people could lessen the impact of genetic conditions, thus
lowering future interest in eugenics or other kinds of genetic manipulation.
• Euphenics deals with improvement of human race by genetic engineering.

24. HYBRID PLANTS