Genetic Counseling

Contents

1. What is counseling

2. What is genetics

3. General concept

4. Pattern of inheritance

5. Genetics

6. Aims of genetic counseling

7. Functions of genetic counseling session

8. Indications for genetic counseling

9. Information conveyed in genetic counseling

10. Components of genetic counseling process

11. Steps of genetic counseling

12. What is the role of genetic counseling

13. Pre requisites of genetic counseling

14. Genetic counseling ethics

15. Genetic screening

16. Conclusion
What is counseling?

 Counseling is consultation, mutual interchange of opinions,

deliberating together.
What is Genetics?
The term genetics was introduced by
Bateson in 1906. It has been derived from
Greek word ‘gene’ which means ‘to
become’ or ‘to grow into’.
General Concept

 Genetic:branch of science which studies

genes and the pattern of inheritance of
particular diseases.

 Inheritance:
the passing of familial elem1
from one generation to the next.
 Gene: basic unit of genetic information. Genes determine the
inherited characters. It is the functional subunit of DNA and contains
instructions for making proteins.

 Chromosomes: storage units of genes. A structure within the cell that

deliver the genetic material as DNA.

 DNA: it is a nucleic acid that contains the genetic instructions

specifying the biological development of all cellular forms of life
molecule encodes the genetic information.

 Genome: the collection of genetic information.

Pattern of Inheritance

 Human cell contains 23 pairs of chromosomes. 22 pairs autosomal and one pair sex
chromosomes.

 23 chromosomes inherited from mother and 23 chromosomes from father.

 Sex chromosomes: XX for female and XY for male.

 Mutant gene: means abnormal gene which cannot perform it’s function properly.

 Affected individual: individual who is known to have disease.

 Carrier individual: individual who appears normal but has one copy of mutant gene.
Genetics

 Definitions
 Genetics is defined as a branch of medical science. Sciences
which are concerned with the transmission of characteristics
from parents to offspring.
Genetic Counseling

 It is a process by which patients or relatives at risk of an inherited

disorder, are advised of the consequences and nature of disorder,
the probability of developing or transmitting it and the options open
to them in management and family planning in order to prevent or
avoid it.
Genetic Counseling

 Providing of information regard health and support by a specialist

doctor “a geneticist” to client (a person who performs genetic test).

 This complex process can be seen from diagnostic (the actual

estimation of risk) and supportive aspects.
Aims of Genetic Counseling

 The genetic counseling aims to provide the family with complete and
accurate information about genetic disorders.
 1. Promoting informed decisions by involved family members.

 2. Clarifying the family’s options available treatment and prognosis.

 3. Explaining alternatives to reduce the risk of genetic disorders.

 4. Decreasing the incidence of genetic disorders.

 5. Reducing the impact of the disorders.

Functions of Genetic Counseling
Session
 Provide information

 Available solution

 Help person to understand and cope with his condition

 Testing the risk of reoccurrence.

Indications for Genetic Counseling

 1. Hereditary disease in a patient or family.

 2. Birth defect.

 3. Mental retardation.

 4. Advanced maternal age .

 5. Early onset of cancer in family

 6. Miscarriage

7. Malformation.
Information conveyed in Genetic
Counseling
 1. Magnitude of risk of occurrence or recurrence.

 2. Impact of disease on patient or family.

 3. Modification of disease impact or risk.

 4. Anticipated future development.

Components of genetic counseling
process
 1. Information gathering

2. Diagnosis.

3. Risk assessment

4. Information giving.

5. Psychological assessment and counseling.

6. Help with decision making.

7. On – going client support.

Steps of genetic counseling

 Diagnosis.

 Prognosis

 Treatment.
What is the role of genetic
counseling?
 Genetic counsellors provide genetic information. It’s their counselling
skills, including their ability to empathically connect with their patients
that leads to demands for their skills.

 Good genetic counsellors have many strengths. They make their client’s
best interest their foremost priority and are keenly attuned to complex
professional and ethical challenges.

 Genetic counsellors use non directive counselling methods to provide

the best service to those who need them.

 To develop a mutual relationship with the client, to understand her or

him to relieve any psychological distress, promote a sense of control,
and help find solutions to specific problems.
 Asses the clients strengths values and needs; provide an
individualization and flexible counselling style to suite each client’s
need and agenda; develop an awareness of self; and attend to
their own inner life.

 The counsellor tends to give advice, make decisions, be coercive,

persuasive, influencing, directing and controlling.

 The counsellor communictes enables explores, encourages, informs

offers choices, discusses, promotes autonomy, is empathic, non
judgemental and respect of client.
Pre requisites of genetic counselling
is
 Detailed family history
 Accurate diagnosis
 Understanding the medical aspect of disorder
 Understanding the inheritance pattern
 Understanding the psycho- social impact if the information.
 Training
 Understanding the concept of health.
Genetic Counseling Ethics

 Respect the right of individual

 Non directive approach

 Keep privacy of individual and family

 Maintain the communication between counsellor and his client

Genetic Screening

 Definition
 search in apparently normal population for individual with abnormal
gene which increase their risk or their offspring of being affected by
a disease.

 Its types
 1. carrier identification
 2. prenetal diagnosis
 3. Newborn screening
 4. Forensic screening
Conclusion

 Many diseases have genetic roots

 The genetic screening is an essential issue in most stages of the life.

 Genetic counseling aim is to bridge the gap for people between

genetic field complexity and their life.
THANK YOU