COUNSELLING AND PRACTICAL APPLICATION OF GENETIC IN NURSING

By:- firoz qureshiDept psychiatric 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 blood relatives.

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

There is a familyhistory of birthdefects , 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.

Cont..

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 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.

Cont.. 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 -

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- 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.