Counseling is consultation, mutual
interchange of opinions,
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.
( the father of genetic)
Genetic: Branch of science which studies
genes and the pattern of inheritance of
Inheritance: The passing of familial
elements 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
contain instruction for making
Chromosomes – storage units of
genes. A structure within the cell
that deliver the genetic material as
DNA - is a nucleic acid that
contains the genetic instructions
specifying the biological
development of all cellular forms
of life Molecule encodes the
Genome – the collection of
Genetic pedigree: a diagrammatic
representation of diseases history in a
family up to 3rd degree relative.
Pattern of inheritance
Human cell contain 23
pairs of chromosomes. 22
pairs autosomal and one
pair sex chromosomes.
from mother and 23
chromosomes from father.
Sex chromosomes: XX for
female and XY for male.
Pattern of inheritance
Mutant gene: means
abnormal gene which can
not perform its function
in proper way.
individual who is known
to has disease.
individual who appear
normal but has one copy
of mutant gene.
Genetics is defined as a branch
of medical science sciences
which concerned with the
transmission of characteristics
from parents to offspring.
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
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
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
Aims of genetic counseling
The genetic counseling aims to provide the family
with complete and accurate information about
Promoting informed decisions by involved
Clarifying the family‟s options available
treatment and prognosis
Explaining alternatives to reduce the risk of
Decreasing the incidence of genetic disorders
Reducing the impact of the disorders
Function of genetic counselling
Help person to understand and cope
with his condition
Testing the risk of recurrence
INDICATIONS FOR GENETIC COUNCELING
1. Hereditary disease in a patient or
2. Birth defects
3. Mental retardation
4. Advanced maternal age
5. Early onset of cancer in family
8. Tendency to develop a neurologic
INFORMATION CONVEYED IN GENETIC
1. Magnitude of risk of occurrence or
2. Impact of disease on patient and
3. Modification of disease impact or
4. Anticipated future development
WHO ARE GENETIC COUNSELLERS ?
Postgraduates health professionals with a graduate
diploma or Master's in genetic counseling.
Experience in the areas of medical genetics and
Identify family at risk, investigates the problems
present in the family, interpret information about the
disorder, analyze inheritance patterns and, risk of reoccurrence & review available option with the family.
Serves as educators and resource people for other
health care professional sand for general public.
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
WHAT IS THE ROLE OF GENETIC COUNSELLING ?
Counselors provide genetic
information. It is their counselling skills,
including their ability to empathically
connect with their patients that leads to
demands for their skills.
Counselor have many
strengths. They make their clients‟
best interest their foremost priority and
are keenly attuned to complex
professional and ethical challenges.
Counselor use non-directive
counseling method to provide the
best service to those who need them
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.
the 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.
counselor tends to give advice,
make decision, be coercive,
persuasive, influencing, directing
enables, explores, encourages,
informs, offers choices, discusses
,promote autonomy ,is empathic,
non-judgmental, and respectful of
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
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 surgery
PRE-REQUISITES OF GENETIC COUNSELLING IS
Detailed family history.
Understanding the medical aspect of the
disorder (etiology, natural history, treatment,
prognosis, burden ).
Understanding the inheritance pattern (
Understanding the psycho-social impact of the
Training / experience in counselling
Understanding the concepts of health / disease
/ healthcare in the appropriate cultures.
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
IN SHORT GENETIC COUNSELLING IS
Determine the facts :
Diagnosis, etiology, and inheritance patterns,
prognosis, natural history, treatment and reoccurrence 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
Genetic counselling :
It is non-directive.
search in apparently normal population
for individual with abnormal genes
which increase their risk or their offspring
of being affected by a disease.
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.