Genetic counseling is a communication process aimed at educating individuals or families about inherited disorders and available options, led by trained professionals. The process includes information gathering, risk assessment, psychosocial support, and follow-up, with two main types: prospective and retrospective counseling. Additionally, the document discusses concepts related to eugenics, euthenics, and euphenics as they pertain to genetic and environmental improvements in human health and well-being.

1. GENE COUNCILLING
BY
HARSH UPADHYAY(187)

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

6. 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

7. 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

8. 2TYPES 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.

9. 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. NEW- EUGENICS
APPLICATION
 Defective genes
 Silencing
 Activating
 Terminating pregnancy
 Sperm bank

13. 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.

15. 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- German
measles)

16. 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.