Genetic counseling

Dr. Pragasam Viswanathan

Professor, SBST

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Pattern of inheritance
 Human cell contain 23
pairs of chromosomes.
22 pairs autosomal and
one pair sex
chromosomes.

 23chromosomes
inherited from mother
and 23 chromosomes
from father.

 Sex chromosomes: XX for

female and XY for male.
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 Pattern of inheritance
 Mutant gene: means
abnormal gene which can
not perform its function
in proper way.

 Affected individual:
individual who is known
to has disease.

 Carrierindividual:
individual who appear
normal but has one copy
of mutant gene.

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Genetic counseling

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 Genetic counseling
Genetic counseling is a process by
which patients or relatives, at risk
of an inherited disorder, are
advised of the consequences and
nature of the 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.
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Genetic counseling is the process of
helping people understand and adapt to
the medical, psychological and familial
implications of genetic contributions to
disease. This process integrates the
interpretation of family and medical
histories to assess the chance of disease
occurrence or recurrence, education
about inheritance, testing, management,
prevention, resources and research, and
counseling to promote informed choices
and adaptation to the risk or condition”
(NSGC, 2005).National Society of Genetic
Counselors
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Genetic counselling
Providing of information
regard health and support by a
specialist doctor “a geneticist” to
client (a person who perform
genetic test).
This complex process can be seen
from diagnostic (the actual estimation
of risk) and supportive aspects
Genetic counseling

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 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
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INDICATIONS FOR GENETIC COUNCELING
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

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INFORMATION CONVEYED IN GENETIC
COUNCELING:

1. Magnitude of risk of occurrence

or recurrence
2. Impact of disease on patient
and family
3. Modification of disease impact
or risk
4. Anticipated future development

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STEPS OF GENETIC COUNCELLING:

Diagnosis

Prognosis

Treatment

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 WHO ARE GENETIC COUNSELLERS ?
 Postgraduateshealth professionals with a graduate
diploma or Master's in genetic counseling.

 Experience in the areas of medical genetics and

counseling.

 Identifyfamily at risk, investigates the problems present in

the family, interpret information about the disorder,
analyze inheritance patterns and, risk of re- occurrence &
review available option with the family.

 Serves as educators and resource people for other

health care professional‘s and for the general public.

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work in administration capacities.
A team of physician, nurse and social
worker who undergone special training
in genetic counseling
Many engage themselves in research
activities related to the field of medical
genetics & genetic counseling

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WHAT IS THE ROLE OF GENETIC COUNSELLING ?
 GeneticCounselors provide genetic
information. It is their counselling skills,
including their ability to empathically
connect with their patients that leads to
demands for their skills.

 Good Genetic Counselor have many

strengths. They make their clients‟
best interest their foremost priority and
are keenly attuned to complex
professional and ethical challenges.
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 GeneticCounselor use non-directive
counseling method 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 solution to specific problems.
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 Assessthe client‟s strengths, values
and needs; provide an
individualization and flexible
counseling style to suite each client‟s
need and agenda; develop an
awareness of self; and attend to their
own inner life.

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 The counselor tends to give advice,
make decision, be coercive, persuasive,
influencing, directing and controlling.

 The counselor communicates,

enables, explores, encourages,
informs, offers choices, discusses,
promote autonomy, is empathic,
non-judgmental, and respectful of the
client.

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 Nurse as genetic counselor
Important role in follow up, clarifying
information, providing continuous support
to the grieving process as appropriate
Helps to decrease the risk of transmitting
the disorder
Discus along with genetic counselor and
family members on alternative arrangement
as adoption, Artificial insemination,
surrogate pregnancy, prenatal diagnosis with
selective abortion, prenatal treatment,
curative treatment, genetherapy and fetal
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 PRE-REQUISITES OF GENETIC
COUNSELLING IS
Detailed family history.
 Accurate diagnosis.
Understanding the medical aspect of the disorder
(etiology, natural history, treatment, prognosis,
burden ).
Understanding the inheritance pattern (recurrence
risk)
Understanding the psycho-social impact of the
information.
Training / experience in counselling
techniques.
Understanding the concepts of health / disease
/ healthcare in the appropriate cultures.
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Genetic counselling ethics

Respect the right of individual

Non- directive approach

Keep privacy of individual and family

Maintain the communication between

counsellor and his client
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IN SHORT GENETIC COUNSELLING IS

Determine the facts :

 Diagnosis, etiology, and inheritance patterns,
prognosis, natural history, treatment and re-
occurrence of risk.
Transmitting the information :
 To those requesting it in a sensitive, culturally
appropriate, understandable way.
Supporting the decision :
 Supporting the decision making process of the
couple.
Genetic counselling :
 It is non-directive.

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 Genetic screening
 Definition:
A search in apparently normal population
for individual with abnormal genes
which increase their risk or their offspring
of being affected by a disease.

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Types of genetic screening
1. Carrier identification

2. Prenatal diagnosis

3. Newborn screening

4. Forensic screening ( paternity test)

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Conclusion
Many diseases have genetic root

The genetic screening is an

essential issue in most stages of the
life.

Genetic counselling aim is to

bridge the gap for people between
genetic field complexity and their
life. 26
Any question ?

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