Genetics

Prepared by
Debalina ghosh
P G Tutor
Tmcon, tmu
 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 process
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 blood relatives.

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

There is a family history of

birth defects , mental
retardation.
 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
5 Developing testing
6 Immunological test
 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
- 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.
- Follow 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 .
 Major practical application of
genetic in nursing
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
 2. Early 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
 Down’s syndrome – (Trisomy 21) 47
chromosomes, extra chromosome at pair
#21
Turner’s syndrome – only 45 chromosomes,
missing a sex chromosome (X)
Girls affected – short, slow growth, heart
problems
Klinefelter’s syndrome – 47 chromosomes,
extra X chromosomes (XXY)
Boys affected – low testosterone levels,
underdeveloped muscles, sparse facial hair
Achondroplasia-FGFR3