Genetic Counselling

1. Genetics Series:
Genetic Counselling
Dr Mathew Joseph
MBBS,MD(AIIMS),BCC(Palliative Medicine)
Assistant Professor
Department of Anatomy
Amala Institute of Medical Sciences, Thrissur

2. Describe the principles of genetic counseling.
Objectives

3. • Genetic counseling is defined as the clinical counseling of a patient
or his/her relative who is at the risk of a genetic disorder.
• It is the counseling to make the individual aware regarding the
genetic disease condition, risk of inheritance, and possible modalities
for prevention and treatment.
• The person who performs genetic counseling is known as genetic
counselor.
INTRODUCTION

4. • Provide information on genetic disorders.
• Diagnose the case and other family members who are at risk of
genetic disorders.
• Assess the inheritance pattern of the disease.
• Provide medical and psychological support.
• Advise prevention of hereditary diseases.
INTRODUCTION

5. • Family history of genetic abnormality (A child with birth defect)
• Maternal age more than 35 years
• Fetal anomalies
• Consanguineous marriage
• Repeated miscarriages, infertility
• Teratogen exposure in pregnancy
• Child adoption, developmental delay
• Case of disputed paternity
• Diagnosed case of genetic abnormality
• Suspected case of inborn errors of metabolism.
INTRODUCTION

6. Indications for genetic counseling.

8. STEPS OF GENETIC COUNSELING

9. Q. List the steps in genetic counseling.
The genetic counseling involves six phases as follows:
• This phase is related to acquire the knowledge regarding clinical history of the
patient.
• It includes present and past history, family history, obstetric history (history of
infertility, abortions, stillbirths) and consanguineous marriage.
• Pedigree charting: It helps to show the occurrence and appearance of a
particular gene in family of an individual. It helps to assess the mode of
inheritance.
STEPS OF GENETIC COUNSELING

10. • The diagnosis of the disease can be done using following methods:
– Phenotypic screening
– Molecular or chromosomal analysis
– Prenatal diagnosis.
• The selection of method depends on the suspected disease and the status of
p a t i e n t ( s u c h a s
l i v e - b o r n b a b y , p r e g n a n t w o m a n a n d s o o n )
• It includes pedigree charting and estimation risk.
• Risk of the disease is estimated on the basis of mode of inheritance, pedigree
charting and results of various diagnostic tests.
STEPS OF GENETIC COUNSELING

11. • The vital role of the counselor is to explain the information gained from analysis
(Phase 3) to the patient.
• Communication phase includes following factors:
– Ethical transmission of information
– Emotional support
– Creation of right view in family members towards the disease
– Education on disease (present and future status) and available treatments
– Education on involved risk of inheritance
– Advise on treatment, prevention and rehabilitation.
STEPS OF GENETIC COUNSELING

12. • Many genetic disorders do not have an available cure treatment. Only
supportive measures are suggested to improve the status of an individual.
• Advise on gene therapy and stem cell therapy is given depending on the
disease condition, availability and economic conditions.
• Patient may be asked to visit multiple times for psychological counseling as per
the need.
• If there is risk of transmission of the disease to the next generation, advise to be
given on pregnancy (use of in vitro fertilization, artificial insemination, prenatal
diagnosis and so on) for prevention of disease transmission.
STEPS OF GENETIC COUNSELING

13. Eugenics is the science to improve the genetic quality of the human population by
selective breeding (Introduced by Francis Galton, 1883).
• Increasing rate of sexual reproduction in desired population (positive eugenics).
• Reducing rate of reproduction or sterilizing affected (diseased) population
(negative eugenics).
Eugenics is practiced in genetic counseling and prenatal diagnostics.
EUGENICS

14. Thank you