GENETIC

ASSESSMENT
AND
COUNSELING
INTRODUCTION
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.
Continue…..

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”.
DEFINITION
 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.
 Smith (1955) defines Counseling as “ a
process in which the counselor assists the
counselee to make interpretations of facts
relating to a choice, plan or adjustments which
he needs to make ”
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 choice about future
reproduction.
.
Continue…..

 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.
INDICATION
 If a standard prenatal screening test (such as α
fetoprotein test) yields an abnormal result.

 An amniocentesis yields 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.

STEPS OF GENETIC
COUNSELING
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, Xrays) 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.

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 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

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.
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 n 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
APPLICATIONS OF
GENETIC COUNSELING
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
Pediatric 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 isavailable is fragile X-syndrome.
ROLE OF A NURSE IN
GENETIC COUNSELING
 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.
Continue…
 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.