GENE COUNSELLING

BY
HARSH UPADHYAY
(187)
 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 a genetic
disorder.
 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
 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
 THE GENETIC COUNSELING PROCESS

 Assessment/Info. Gathering • Information giving

- Contact with patient (review reason for - Discussion of analysis of a diagnosis
appt)
- Medical and family history with the patient
- Records review • Treatment and Support
• Establishing or verifying a diagnosis - On-going client support
Methods:
- Phenotypic screening
• Follow up
- Prenatal diagnosis - Support resources

 Risk assessment and Analysis

- Pedigree charting
- Various diagnostic Tests
 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.
 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.
 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.
 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)
 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.