Presented by:

Miss Ravina patel,

1st year Msc(N)
student,
NCN, visnagar
 SR.NO CONTENT

1 INTRODUCTION

2 DEFINITIONS

3 PURPOSE

4 PRINCIPLES

5 WHO ARE GENETIC CAUNSELLORS

6 INDICATION

7 TYPES

8 STEPS

9 APPLICATION OF GENETIC COUNSELLING

10 ROLE OF NURSE IN GENETIC COUNSELLING

 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 genetics is “Gregor johann

Mendel”
GENETICS:
 Branch of science which studies gene and the
pattern of inheritance of particular disease.

 INHERITANCE:
 The passing of familial elements from one
genaration to the next.
 Counseling is a process of communicating
between two or more persons who meet to solve a
problem, resource a curese 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”.
 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 ”
 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.
 It is a therapeutic measure.

 It include establishment of accurate diagnosis,

treatment of the affected individual as well as the
prevention of occurance of genetic disorder.

 It require special aptitude for the communication.

 It must be non directive.

 Follow up session is always desirable.

 Post graduate health professional with a graduate
diploma or master in genetic counseling.

 Experience in the area of medical genetic counseling.

 Physician, nurse and social worker who under gone

special training in genetic counseling
 Hereditary disease in a family.

 Birth defect

 Mental retardation

 Advanced maternal age

 Early onset of cancer in family

 Miscarriage

 malformation
 TYPES

prospective retrospective
 This allow for the true prevention disease.

 This is require identifying heterozygous individual for

any particular defect by screening.

 Explaining to them the risk of their having affected

children if they marry another heterozygote for the
same gene.
 There is a way a history of either an offspring
or relative being affected.

 At present, this counseling is mostly using and

this is the hereditary disorder has already
occurred in the family.
 An accurate diagnosis of disorder. To complete an
accurate diagnosis the following procedure should
be followed:

1. History

2. Pedigree charting

3. Estimation of risk

4. Transmiting information

5. managment
  A proper record of the history of the patient isnecessary:
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
 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
  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

  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.
 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.
 Pre- Pedia-
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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 is
available is fragile X-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
Genetic counseling for adults may lead to the
consideration of presymptomatic genetic testing
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.

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
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.
 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.
 Keya Lahiri “Clinical genetics” 1ST edition 2005, Jaypee Publications,
page no: 41, 104-106.
 Samta soni, “Text book of Advance nursing practice”, 1st edition
2013, Jaypee brothers medical pvt. Ltd, page no.:
 Shebeer p. Basheer, S. Yaseen khan, “A consice textbook of advanced
nursing practice, 2nd edition, EMMESS medical published, page no:
 Suresh kumar Sharma,”Human genetics in nursing” 1st edition 2007,
Jaypee Publication, page no: 106-109.
 http://www.medindia.net/patient/patient info/genetic counseling
 http://www.kidshealth.org/pregnancy/newborn/medical problems/genetic
counseling.html
 http://www.webmd.com
 http://en.m.wikipedia.org
 http://medlineplus.gov