genecouncillingnew001h-210624053300.pptx

gene counselling

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 Hereditary disease in a patient or family Birth defects Mental retardation Advanced maternal age Early onset of cancer in family Miscarriages Malformations 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. 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 .  

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.

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

11. 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.

12. Examples of Euthenics Water treatment plants - clean drinking water Vaccines prevent people from developing certain diseases. Genetically modified V egetables and fruits that grow faster and stay edible for a longer period of time. N aturally 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.) V accinating women for rubella to prevent rubella in the fetus (rubella- German measles)

13. 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.