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 counselling 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 counselling is not a form of psychological counselling or psychotherapy

and should not be confused with counselling 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.

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 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 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

• 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.

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 OF GENETIC 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.

Genetic nursing is practiced in different environment such as maternity ,

paediatric , medical surgical nursing and community health nursing .

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

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- Hepatospleenomegaly

3- Enlargement of lymph nodes and gwoth

failure

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 OF GENETIC COUNSELLING

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 genetic testing.