COUNSELLING AND PRACTICAL

APPLICATION OF GENETIC
IN NURSING
 GENETIC
COUNSELLING
INTRODUCTION: Genetic counseling is a
service that provide information and advise
about genetic condition. These are condition
caused by changes known as mutation in
certain genes and are usually passed down
through a family.
Genetic counseling is
conducted by health care
professionals who have
been specially trained in
the science of human
genetic . ( a genetic
counselor or a clinical
geneticist )
DEFINITION:
 Genetic counseling is a communication
pr0cess which deals with the human
problems associated with the occurrence or
the risk of occurrence of the genetic disorders
in a family .

 Genetic counseling is not a form of

psychological counseling or psychotherapy
and should not be confused with counseling
therapy used to treat mental health condition
such as depression and anxiety.
 PURPOSES
 To comprehend the medical facts ,
including diagnosis, probable course of
disorder and the available management.

 To appreciated the way hereditary contributes

to the disorders and the risk of recurrence in
specific relatives.

 To understand the option for dealing with the

occurrence .
-To make the best possible adjustment
to the disorder in an affected family
members.

-To choose the course of action

which seems appropriate to them in
view of their risk and family goals ,
act in accordance with that decision .
BENEFICIARIES-
 People who have a birth defect or genetic
condition.
 Parents who have had a child with birth
defect / genetic condition .
 Parents who have a child with developmental
delay , mental retardation .
 Women who have had three or more
miscarriages or infertility .
 People concerned they may have inherited a
tendency cancer .
People may have
inherited a tendency to
develop a neurological
condition.

Mother will be 35 yrs

or older at the time
at the time of
delivery.

Couples are
•Testing during the
pregnancy indicates that
the baby may have a birth
defects /genetic
condition .

There is a
family history
of birth
defects , mental
 PHASES

• 1- ASSESSMENT PHASE- This is

primary beginning phase of counseling .
• Initial interview with counsele and family for
preparation of counselle for genetic
counselling .
• Collect family history and other relevant
history.
• Physical examination.
• Considering potential diagnosis based on
collected information
2- DIAGNOSTIC
PHASE
 In some cases, the goal of a genetic
evaluation is to make a diagnosis of a
particular genetic condition / syndrome.

 In other cases the diagnosis already is

known
, and the genetic counsellor or geneticist
probably will confirm the established
diagnosis to proceed for next phase of
counselling.
Confirmatory /
supplementing
testing-

1 Chromosomal
analysis
2 Biochemical
tests
3 Molecular DNA Testing
4- X rays, biopsy
3- ANALYSIS
PHASE-
 Literature search and review of information.

 Consultation with other experts.

 Compiling of information and determination

of recurrence risk.
4- COMMUNICATION PHASE
-
 Communication of the results and risk to the
counselee and to the family if appropriate.

 Discussion of the natural history of disorder ,

treatment, anticipatory guidance.

 Discussion of option and review of question.

 Clear all doubts of the patients.

5- REFERRAL AND
SUPPORT PHASE
- Refer the individual to genetic specialist
for further intervention for example
prenatal diagnosis or treatment modalities
for different disorders.
- Support of decision made by counselee.
- Psychological support should be

provided through out the process.

- Fellow up and evaluation.
 ROLE OF
 NURSE
Receive the client and family and make them
comfortable in assessment room for genetic
counselling .
 Obtain prenatal , family and other family
histories from individual and family .
 Conduct a primary physical information and
collect other relevant information.
 Identify families at risk , investigation the
problems present in the family
Cont.
.•Provide psychological support through out the
counselling.
•Provide information about hereditary pattern .
•Collect other related information from individual and
family .
•Provide all explanation about all the question.
•Obtain an informed written consent for any planned
genetic test / intervention .
•Encourages the individual and family to ask question
as much as they can understand about all aspects of
disorders , Testing , management.
Cont..
 Maintain privacy and confidentiality of all
information related to individual and family
only disclose the information as per individual
wish and permission.

 Ensure follow up and supportive services to

individual and family during entire course of
need .
 PRACTICAL APPLICATION
GENETIC
OF IN NURSING
Recent advances in genetic knowledge and
technology have impacted all areas of nursing
practices. Application of genetic in nursing is
very wide .
 All nurses have role in the delivery of genetic
services and management of genetic
information.
 Nurses require genetic knowledge to
identify
, support , refer , care for persons.
Cont..
Genetic nursing is practiced in
different environment such as
maternity , paediatric , medical
surgical nursing and
community health nursing .
Major practical
of genetic in nursing
application

1-Understands genetics
basis of disease-

Role of different genes in causation of

genetic disorders and defects ,Normal
and abmormal cell devision , good or
bad genes for health illness continum
2Early and effective
diagnosis of genetic
disorder-
3 Contributes towards health
promotion with genetic
aspects-

4 Prevention of genetic condition

-
Cont..
5 MANAGEMENT AND CARE OF
GENETIC DISORDERS

6 GENETIC INFORMATION AND

COUNSELLING REFERRAL
SERVICES

7 SOCIAL AND ETHICAL ISSUES IN

GENETIC
 COMMON GENETIC
 DISORDER
Cystic fibrosis
 Hintington’ s disease
 Down syndrome
 Duchenne muscular dystrophy
 Sickle cell anaemia
 Celiac disease
 Becker muscular dystrophy
 Noonan syndrome
 blooms’ syndrome
 Thalassemia
 THALASSEMIA
 INTRODUCTION- It is a group of hereditary
hemolytic anemia characterized by reduction
in the synthesis of hemoglobin. The word “
thalassemia ” is derived from the Greek words
‘thalassa ‘ means the great sea.
 CLINICAL
FEATURES – 1-
Jaundice
2-
Hepatospleenomeg
aly
3- Enlargement of lymph nodes and gwoth
 Anorexia , poor feeding and , abdominal
distension may present.
 Irregular fever
 Increased metabolic activity
DIAGNOSTIC EVALUATION-
- Blood examination
- Bone marrow study
- C T scan , MRI , Chest X Rays
- ECG
- Liver biopsy
CRITICAL COMPONENTS
GENETIC COUNSELLING
OF
 Obtaining a three generation genetic family
history
 Assessing risk for thalassemia in family
members
 Identifying risk factors impacting medical
management ( family history of other
hemoglobin traits and disease, cardiovascular
disease, renal disease , ophthalmological
disorders ,)
-Incorporating psychosocial
information impacting the
family system and
relationship.

-Assisting patients in
coverying information about
genetic risk to other
family members

-Provide informed consent, pre

and post counselling for all