Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselor’s values. Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders.

1. PRESENTED BY
MISS. PUSHPA JAISAL
M.SC (N) 1ST YEAR
KGMU COLLEGE OF NURSING

2.  Counseling is a process of
communicating between two or more
persons who meet to solve a problem,
resource a curse or take decision on
various matters. It is not a one way
process where in the counseling tells
the client what to do nor it is a forum
for presentation of the counselor’s
values.
 Genetic counseling process follows
these basic characteristic of a
counseling process. It is undertaken
with families confronted with genetic
and inherited disorders.
 Sheldon Reed proposed the
terminology “GENETIC
COUNSELING in 1947”.

3.  The American society of
human Genetic define
“Genetic Counseling as a
communication process,
which deals with human
problems associated with the
occurrence or the risk of
occurrence of a genetic
disorder in a family”.

4.  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 choice
about future reproduction.
 Educate people about inherited disorder
and the process of inheritance.
 Offer support by skilled health care
professionals to people who are affected
by genetic disorders.

5.  If a standard prenatal screening test
(such as α fetoprotein test) yields an
abnormal result.
 An amniocentesis yields n unexpected
results (such as chromosomal defect in
the unborn baby).
 Either parent or close relative has an in
heritance 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 35yrs of age or over.
 The partner is blood relatives.

6. 1. Prospective genetic counseling :-
 This allows for the true prevention of
disease.
 This requires identifying heterozygous
individuals for any particular defect by
screening.
 Ex : sickle cell anemia , thalassemia
2. Retrospective genetic counseling :-
 Most genetic counseling at present is
retrospective , the hereditary disorder has
already occurred within the family.
 Ex . Mental retardation, psychiatric illness

7.  An accurate diagnosis of disorder. To complete an
accurate diagnosis the following procedure should be
followed
 HISTORY:
 A proper record of the history of the patient is
necessary:
 This includes both present and relevant past history
Family history includes siblings and other relatives
also.
 Kindly note if there is any other person in the family
with a similar problem
 Obstetric history of includes exposure to teratogens
(drugs, X- rays) in pregnancy.
 History of abortion or still birth if any should be
recorded. Enquiry should be made about consanguinity
as it increases the risk especially in autosomal recessive
disorders

8.  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. If forms an
indispensable step towards counseling
 ESTIMATION OF RISK
 It forms one of the most important
aspects 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

9.  TRANSMITTING INFORMATION
 After completing the diagnosis, pedigree charging and
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 and financial background of the family.
 Gaining confidence of consultants in subsequence meetings
during follow up.
 Ethical, moral and 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.

10.  MANAGEMENT:
 In genetics, “Treatment” implies a very limited scope. It
naturally aims for prevention rather then cure. In fact 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.
For example PKU, i.e. phenylketonuria. This disorder is
characterized by a deficiency of phenylalanine
hydroxylase enzyme, which is necessary for the
conversion of phenylalanine to tyrosine

11.  Genetic counselors work with people concerned about the risk
of an inherited disease or condition.
 These people represent several different populations
 Prenatal Genetic Counseling
 There are several different reasons a person or couple may seek
prenatal genetic counseling. If a woman is of age 35 or older
and pregnant, then there is an increased chance that her fetus
may have a change in the number of chromosomes present.
 Changes in chromosome number may lead to mental
retardation and birth defects
 Prenatal tests that are offered during genetic counseling
include
 Level II Ultrasound
 The maternal serum AFP
 Chorionic Villus sampling (CVS)
 Amniocentesis

12. Pediatric 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.
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

13.  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 and 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 and ovarian cancer genes

14.  Guiding a women or couple through
prenatal diagnosis.
 Helping parents make decision in regard
to abnormal prenatal diagnostic results.
 Assisting parents who have had a child
with a birth defect to locate needed
service and support.
 Providing support to help the family deal
with the emotional impact of a birth
defect.
 Coordinative services of other
professionals, such as social workers,
physical and occupational therapist,
psychologist & dietician.

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