Genetic counseling is a process that provides information and support to individuals and families regarding genetic disorders and inherited diseases. It involves taking a family history, constructing a pedigree, estimating disease risks, communicating information to clients, and discussing management options. The goals are to provide accurate information about genetic conditions, allow for informed reproductive choices, and offer support from healthcare professionals. Genetic counselors work with a variety of populations for prenatal, pediatric, adult, and cancer counseling. They help clients understand genetic information and make personal decisions regarding testing and management. Nurses play a role in recognizing genetic disorders, assisting with the counseling process, and providing psychosocial support to families.

2. Presenting by –
Chirashree Giri
2nd year M.Sc nursing

3. • Counseling is a process of
communicating between two or
more persons who meet to solve
a problem or take decision on
various matters.
• It is not a one way process where
in the counselor tells the client
what to do nor it is a presentation
of the counselor’s values.
• Genetic counseling is undertaken
with families confronted with
genetic and inherited disorders.
• Sheldon Reed proposed the
terminology “genetic counseling”
in 1947.

4. Definition
• The American society of human genetic define
genetic counseling as a communication process,
which deals with of occurrence of a genetic
disorder in a family.
• Smith (1955) defines counseling as a process in
which the counselor assist the counselee to
make interpretations of facts relating to a
choice, plan or adjustment which he needs to
make.

5. Incidence
• About 3% of babies born with birth defects
each year, according to the Centers for
Disease Control and Prevention (CDC).

6. Purpose
• Provide concrete & accurate information about inherited
disorders.
• Reassure people who are concerned that their child may
inherit a particular disorder that the disorder will not occur.
• Allow people who are affected by inherited disease to make
informed choices about future reproduction.
• Educate people about inherited disorders & the process of
inheritance.
• Offer support by skilled health care professionals to people
who are affected by genetic disorders.

7. Indication
• If a standard prenatal screening test
(such as α fetoprotein test) yields an
abnormal result.
• An amniocentesis yields an unexpected
result (such as chromosomal defect in
the unborn baby).
• Either parent or close relative has an
inheritance disease or birth defect,
either parents already has children with
birth defect or genetic disorders.
• The mother has had two or more
miscarriage or a baby dies in infancy.
• The mother is 35 years of age or over.
• The partner is blood relatives.

8. Principles of genetic counseling:
• It is a therapeutic measure.
• It includes establishment of accurate diagnosis,
treatment of the affected individuals as well as the
prevention of the occurrence of genetic disorders.
• It requires a special aptitude of communication.
• It must be non-directive.
• The final decision is on the counselee.
• Both the parents should be counseled together as far
as possible.
• Follow up sessions are always desirable.

9. Process of genetic counseling:
1) Gathering family history
2) Look over medical records, medications, ultrasound
before pregnancy
3) Interactions with parents about inheritance patterns,
risk patterns
4) If parents are at high risk, options available:
1) Pre-implantation diagnosis
2) Using donor sperm or donor eggs
3) Adoption
5) If parents received severe fetal defect after conception,
options include:
1) Preparing yourself for the defected baby
2) Fetal surgery
3) Ending the pregnancy

10. Steps of genetic counseling

11. History:
1. Both present &
relevant past
history.
2. Family history
includes siblings
& relatives.
3. Obstetrical history
includes exposure to
teratogens, drugs, X-rays.
4. Any history
of abortion or
still birth.
5. Any
consanguineo
us marriage

12. Pedigree Charting:
at a glance this offers in a concise manner the state
of disorder in a family. Constructing a pedigree with
proper interrogation though time consuming, is
ultimately rewarding. It forms an indispensable step
towards counseling.
Estimation of Risk:
it forms one of the most important aspect of
genetic counseling. It is often called recurrence risk. To
estimate it one requires to take into account following
points:
 Mode of inheritance
 Analysis of pedigree or family tree
 Results of various tests

13. Transmitting information:
after completing the diagnosis, pedigree charting &
estimation of risk the next most important step is of
communicating this information to the consultants.
This important functioning involves various factors such as
 Psychology of the patient
 The emotional stress under prevailing circumstances.
 Attitude of family members towards the patients.
 Educational, social & financial background of the family.
 Gaining confidence of consultants in subsequence
meeting during follow up.
 Ethical, moral & legal implications involved in the process.
 Above all, communication skills to transmit facts in an
effective manner i.e. making them more acceptable and
palatable.

14. Management:
• In genetics, “treatment” implies a very limited
scope.
• It naturally aims for prevention rather than
cure.
• For most of the genetic disorders cure is
unknown.
• Treatment is therefore directed towards
minimizing the damage by early detection and
preventing further irreversible damage.

15. Types of genetic counseling:
1. Prospective genetic counseling: usually premarital,
specially when the couples are related, this allows
true prevention of disease.
2. Retrospective genetic counseling: there is a way a
history of either an offspring or relative being
affected. At present, this counseling is mostly using &
this is the hereditary disorder has already occurred in
the family.
3. Expanded family genetic counseling: usually given in
chromosomal abbreations occurring secondary to
balanced translocation or inversion and in X linked
conditions.

16. Application of genetic counseling
• Genetic counselor works with people concerned
about the risk of an inherited disease or
condition.
• These people represent several different
populations. Those are:
A. Prenatal genetic counseling
B. Pediatrics genetic counseling
C. Adult genetic counseling
D. Cancer genetic counseling

17. Prenatal genetic counseling
There are several different reasons
a person or couple may seek
prenatal genetic counseling.
Prenatal tests that are offered
during genetic counseling include:

18. Pediatrics genetic counseling
• Families or pediatricians seek
genetic counseling when a child has
features of an inherited condition.
• Any child who is born with more
than one defect, mental retardation
or dysmorphic features has an
increased chance of having a
genetic syndrome.
• A common type of mental
retardation in males for which
genetic testing is available is fragile
X-syndrome.

19. Adult genetic counseling
• Adults may seek genetic counseling when a
person in the family decided to be tested for
the presence of a known genetic condition.
• When an adult begins exhibiting symptoms of
an inherited condition, or
• When there is a new diagnosis of someone
with an adult-onset disorder in the family.
• In addition, the birth of a child with obvious
features of a genetic disease leads to
diagnosis of a parent who is more mildly
affected.
• Genetic counseling for adults may lead to the
consideration of pre-symptomatic genetic
testing.

20. Cancer genetic counseling
• A family history of early onset breast,
ovarian or colon cancer in multiple
generations of family is a common
reason a person would seek a genetic
counselor who works with people who
have cancer.
• While most cancer is not inherited, there
are some families in which a dominant
gene is present & causing the disease.
• A genetic counselor is able to discuss the
chances that the cancer in the family is
related to a dominantly inherited gene.
• The counselor can also discuss the option
of testing for the breast & ovarian cancer
genes.

21. Role of genetic counselor:
• Helping people to understand information about
genetic disorders.
• Providing non-directive support.
• Helping individuals & families makes decisions
with which they are comfortable, based on their
personal ethical &religious standards.
• Connecting individuals & families with
appropriate resources, such as support groups or
specific types of medical clinic locally &
nationally.

22. Role of nurse in genetic counseling
• Recognize or suspect genetic disorders by their physical
characteristics & clinical manifestation
• Create a genetic pedigree including cause of death &
genetic disorders
• Clear-up misconception & allay feeling of guilt.
• Assist with the diagnostic process ( history collection,
physical assessment, blood sampling, or other sample
collection)
• Enhance self –image & self-worth of parents
• Encourage interaction with family & friends
• Refer & prepare family for genetic counseling
• Check with Govt. policy for information & resources
• Recognize the issues( ethical, legal, psychosocial &
professional)
• Be aware of associated professional responsibilities for
e.g. informed consent, documentation, confidentiality.