Genetic counselling made By Sonal Patel

1. Genetic Counselling

2. Genetic counselling is a process of
communication regarding human problems
1. Regarding occurrence and risk of genetic disorder
2. Understand
– diagnosis, prognosis and available management
– Genetic basis and chance of recurrence
– Options available (including genetic testing)
3. Choose
The course of action appropriate to their personal and family
situation
4. ADAPT/Adjust
To the psychosocial impact of the genetic condition in the
family

3. 
The Ultimate Aim of Genetic Counselling
help families with increased risk
help to live and reproduce normally

4. Situations that require immediate help……
• A pregnant woman at risk
• Parents of child newly diagnosed to have genetic disorder
• Young adult at risk who has late onset of a degenerative disease
• A teenage girl whose brother is diagnosed to have an X-linked
disorder

5. Psychosocial Issues follows genetic testing
• Financial
• Psychological
• Social Implications
• Guilt
• Blame
• Reproductive health

6. Guilt and Blame
• Guilt for transmitting the disease
• Relatives who do not suffer and see a relative
suffering
• Blame on parents of the affected
• Blame on families of the affected

7. Impact of genetic diagnosis

8. Reproductive Decision Making
• Confusion regarding whether to
– opt for pregnancy or not
– Taking the risk of giving birth to an abnormal child
– Remain childless
– Reconsider reproductive issues occasionally
Decision making is difficult
– marital disagreement
– religious or cultural conflict
– when prognosis is uncertain

11. Impact on the extended family
• Disturbed about the genetic constitution of the others in the
family
• Relationships might be a strained one
• Affected individual doesn’t want to trouble his family members
• Guilt
• Grievances and fear of loss

12. Counselling around genetic testing

13. Genetic testing
• PRENATAL DIAGNOSIS
• Mutation screening in Samples of chorionic villous
or amniocentesis.
• Ultrasound examination of the fetus may detect
fetal echo-genic bowel.
• Preimplantation genetic diagnosis (PGD)

14. Chorionic villus sampling

15. PREIMPLANTATION GENETIC DIAGNOSIS

17. Stages of Genetic Counselling

22. Genetic counselling insists on
• Informed Consent
• Confidentiality of genetic diagnosis
• Unsolicited information
• Non-directiveness

25. Thank
You